banner
Genes Phenotypes Help, News, Blog

Gene: Slc6a8 MGI:2147834

Log in to follow
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.

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, Self-mutilation ORPHA:52503
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder... OMIM:300352

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elevated circulating creatine kinase concentration, Kyphos... OMIM:620386
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Gowers si... OMIM:610687
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Gowers sign, Flexion contracture, Hypo... OMIM:609285
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Proximal muscle weakness, Centrally nucleated skeletal... OMIM:618484
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Proximal lower limb amyotr... OMIM:616668
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Respiratory insufficiency due... OMIM:607855
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Proximal muscle weakness, K... OMIM:616471
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Lower limb spasticity, Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotr... ORPHA:496689
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short attention span, Abnormal circulating enzyme concentration or activity, Fatty replacement of... ORPHA:171706
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... ORPHA:1145
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Proximal lower limb amyotrophy, Hip contracture, Distal muscle weak... OMIM:600175
Central Core Disease
Multiple joint contractures, Elevated circulating creatine kinase concentration, Kyphoscoliosis, ... ORPHA:597
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Kyphosis, Spastic paraplegia, Upper limb spastici... OMIM:611225
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment OMIM:238700
Intellectual Developmental Disorder, X-Linked 19
Small for gestational age, Scoliosis, Hypotonia, Kyphoscoliosis OMIM:300844
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Upper limb muscle weakness, Dis... OMIM:605588
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria OMIM:234500
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Poor head control, Severe muscular hypotonia, Elevated circulating creat... ORPHA:300179
Ataxia-Oculomotor Apraxia Type 4
Short attention span, Progressive distal muscular atrophy, Kyphoscoliosis, Obesity, Muscular dyst... ORPHA:459033
King-Denborough Syndrome
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Short n... OMIM:619542
Charcot-Marie-Tooth Disease Type 1A
Shoulder pain, Skeletal muscle atrophy, Distal muscle weakness, Kyphoscoliosis, Diaphragmatic wea... ORPHA:101081
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:614727
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... OMIM:300718
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Severe muscular hypotonia, Spinal rigidity, Kyphosis, Flexion contracture, Hyp... OMIM:618323
Brown-Vialetto-Van Laere Syndrome 2
Bulbar palsy, Facial palsy, Kyphoscoliosis, Hypotonia, Neck muscle weakness, Scoliosis, Generaliz... OMIM:614707
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Lower limb spasticity, Bulbar palsy, Scapular winging, Hip contracture, Elevated circulating crea... OMIM:615290
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Parkinson-Dementia Syndrome
Rigidity, Dementia, Kyphoscoliosis, Ophthalmoparesis OMIM:260540
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Generalized hypotonia, Kyphoscoliosis OMIM:619099
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnor... OMIM:239500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elbow contracture, V... OMIM:606612
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Axial hypotonia, Kyphoscoliosis, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Joint contra... OMIM:617977
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Poor head control, Axial hypotonia, Failure to thrive in infancy, Small ... ORPHA:59
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyper... OMIM:617404
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb ... OMIM:617087
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic hand muscle atrophy, Distal amyotrophy, Scolio... ORPHA:3115
Glycogen Storage Disease Ixd
Exercise intolerance, Skeletal muscle atrophy, Distal muscle weakness, Hypoglycemia, Elevated cir... OMIM:300559
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Failure to thrive, Abnormal vertebral morphology ORPHA:96183
Charcot-Marie-Tooth Disease Type 4D
Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Upper limb amyotrophy, Distal u... ORPHA:99950
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp... ORPHA:75840
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Ataxia, Progr... OMIM:618384
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder OMIM:617113
Saccharopinuria
Citrullinuria, Distal sensory impairment, Gait ataxia, Cystinuria, Hyperlysinuria, Cognitive impa... ORPHA:3124
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Abnormal circulating cholesterol concentration, Asthenia, G... ORPHA:251383
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness OMIM:607831
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Bradykinesia, Progressive cerebella... ORPHA:248111
Hypertrophic Neuropathy Of Dejerine-Sottas
Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Hypotonia, Distal amyotrophy, S... OMIM:145900
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Axial hypotonia, Kyphosis, Appendicular hypotonia, Attention deficit hyperactivity disorder, Faci... OMIM:620007
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Night sweats,... OMIM:619574
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Distal muscle weakness, Kyphoscoliosis, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor... OMIM:118220
Myopathy, Centronuclear, 2
Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Respiratory insufficiency ... OMIM:255200
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Neonatal hypotonia, Increased variability in m... OMIM:616470
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Progressive neurologic deterioration, Gait ataxia, Weight loss, Aminoaciduria, Proximal... OMIM:612075
Cerebrooculofacioskeletal Syndrome 1
Axial hypotonia, Small for gestational age, Kyphoscoliosis, Progressive neurologic deterioration,... OMIM:214150
Combined Oxidative Phosphorylation Deficiency 36
Exercise intolerance, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration... OMIM:617950
Roussy-Levy Hereditary Areflexic Dystasia
Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis OMIM:180800
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Axial hypotonia, Kyphoscoliosis, Spastic paraparesis, Joint contracture,... OMIM:260600
Foxg1 Syndrome
Dystonia, Kyphoscoliosis, Hypotonia, Scoliosis, Cognitive impairment, Spasticity, Decreased body ... ORPHA:561854
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Vertebral wedging, Platyspondyly, Arthralgia, Beaking of vertebral bodies OMIM:616583
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Distal muscle weakness, Kyphoscoliosis, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor... OMIM:118200
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98855
Sandhoff Disease
Kyphosis, Progressive psychomotor deterioration, Motor deterioration, Failure to thrive, Muscle w... ORPHA:796
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Flexion contracture, Elevated circulating phytanic acid concentration, Coronal cl... OMIM:215100
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Cognitive impairment OMIM:600384
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Hypertonia, Distal arthrogryposis, Camptodactyly OMIM:618011
Charcot-Marie-Tooth Disease, Type 4B2
Distal muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness, Kyphoscoliosis OMIM:604563
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi... ORPHA:98863
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... ORPHA:2020
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Atlantoaxial abnormality, Decreased muscle mass, Kyphoscoliosis ORPHA:3433
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Lethargy OMIM:605899
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Cognitive impairment, Short neck ORPHA:2744
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Respiratory insufficiency... OMIM:254090
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... OMIM:271630
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigue, Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia, Elevated circulati... ORPHA:42
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Sudden death, Hypotonia, Hypoglycemia OMIM:609016
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
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
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Small for gestational age, Ky... OMIM:613330
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... OMIM:618138
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Kyphoscoliosis, Rigidity, Cervical spondylosis, Dementia, Cognitive impairment, Neck p... ORPHA:199354
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Distal muscle weakness, Small for gestational age, Axial hypotonia, Kyphoscoliosis, Short neck, H... ORPHA:391408
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Hyperinsulinism Due To Insr Deficiency
Fatigue, Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-pepti... ORPHA:263458
Intellectual Developmental Disorder, X-Linked 111
Spasticity, Kyphoscoliosis, Dystonia OMIM:301107
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Obesity, Aggressive behavior OMIM:620270
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Left ventricular hypertrophy, Elevated circulating creatine kinase... OMIM:300280
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, ... OMIM:232700
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Kyphoscoliosis, Dystonia OMIM:616684
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Recurrent h... OMIM:616817
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Diabetes mellitus, Elevated circulating creatine k... OMIM:615980
Typical Nemaline Myopathy
Neck flexor weakness, Elevated circulating creatine kinase concentration, Short neck, Fatigable w... ORPHA:171436
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Dystonia, Kyphosis, Obesity, Hypotonia, Generalized ... OMIM:616756
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Warburg Micro Syndrome 1
Failure to thrive, Hypotonia, Kyphoscoliosis, Spastic diplegia OMIM:600118
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P... ORPHA:411515
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Axial hypotonia, Facial hypotonia, Kyphoscoliosis, Short neck, Spastic paraplegia, Flexion contra... OMIM:300055
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Bulbar palsy, Poor head control, Kyphoscoliosis, Spinal rigidity,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Bulbar palsy, Poor head control, Kyphoscoliosis, Spinal rigidity,... ORPHA:98914
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Progressive distal muscular atrophy, Peroneal muscle weakness, Facial palsy, Progres... OMIM:181405
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Elevated circu... OMIM:255800
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Generalized hypotonia, Dystonia, Fa... OMIM:618237
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Lumbar kyph... ORPHA:3041
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Kyphoscoliosis, Spastic paraplegia, Flexion contracture, Distal amyotrophy... OMIM:275900
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Axial hypotonia, Hy... ORPHA:289504
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral endplates, Coronal c... OMIM:618363
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Elevated circulatin... OMIM:617114
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion... OMIM:277720
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Axial hypotonia, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Dec... OMIM:619048
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Distal muscle weakness, Kyphosis, Ophthalmoplegia, Obesity, Hypotonia, Scoliosis, Foot dorsiflexo... OMIM:618124
Leukodystrophy, Hypomyelinating, 17
Flexion contracture, Kyphoscoliosis OMIM:618006
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Generalized hypotonia, Kyphoscoliosis, Dystonia OMIM:618230
Flynn-Aird Syndrome
Dementia, Kyphoscoliosis OMIM:136300
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Poor head control, Axial hypotonia, Hypoglycemia, Elevated circulating a... OMIM:245400
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:248800
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Social and oc... ORPHA:98818
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Generalized dystonia, Kyphoscoliosis, Blepharospasm, Dementia, La... ORPHA:98805
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis OMIM:612847
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Co... OMIM:300555
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Vertebral wedging, Decreased ... ORPHA:3101
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Gowers sign, Ragged-red muscle fibers, Axial muscle weakness, Generalized amy... OMIM:620351
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Distal muscle weakness, Scoliosis, Skeletal muscle atrophy ORPHA:101078
Charcot-Marie-Tooth Disease, Type 4A
Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis OMIM:214400
Spastic Paraplegia 46, Autosomal Recessive
Lower limb spasticity, Urinary incontinence, Kyphosis, Spastic paraplegia, Dementia, Upper limb s... OMIM:614409
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl... OMIM:619040
Carnitine Deficiency, Systemic Primary
Elevated circulating aspartate aminotransferase concentration, Confusion, Elevated circulating cr... OMIM:212140
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Hypotoni... OMIM:617143
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Vertebral wedging, Firm muscles, Kyphoscoliosis OMIM:255710
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Motor deterioration, Limb joint contracture, Kyphoscoliosis OMIM:612079
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture,... OMIM:610758
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Dystonia, Short neck, Respiratory insufficiency due to muscle weakness, ... OMIM:611890
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hypotonia, Hyperammonemia, Abnormal circulating leuci... ORPHA:6
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age ORPHA:85288
Coffin-Siris Syndrome 6
Diaphragmatic eventration, Kyphoscoliosis, Generalized hypotonia, Attention deficit hyperactivity... OMIM:617808
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Dystonia, Kyphosis, Platyspondyly, Decreased beta-galactosidase activity... OMIM:230650
Dysspondyloenchondromatosis
Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospondyly ORPHA:85198
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,... OMIM:615160
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Poor head control, Axial hypotonia, Lower limb spasticity, Urinary incontine... ORPHA:466722
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... OMIM:232400
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Hypotonia, Macroglossia, Scoliosis, Camptodactyly, Spasticity OMIM:616354
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Hypotonia, Generalized limb muscle atrophy, Myopathy, Scoliosis ORPHA:2598
Arthrogryposis, Distal, Type 2A
Hip contracture, Failure to thrive, Flexion contracture of finger, Small for gestational age, Sho... OMIM:193700
Developmental And Epileptic Encephalopathy 41
Axial hypotonia, Kyphoscoliosis, Flexion contracture, Generalized hypotonia, Spasticity OMIM:617105
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Hypotonia, Obesity, Scoliosis ORPHA:276630
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck,... OMIM:114300
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Obesity, Hypotonia, Scoliosis, Generalized hypotonia, Scheuermann-like vertebral change... OMIM:301900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Proximal mus... OMIM:607155
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Claw hand deformity, Kyphoscoliosis, Proximal muscle weakness, Distal amy... OMIM:601455
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis ORPHA:101075
Scholte Syndrome
Generalized hypotonia, Kyphoscoliosis OMIM:300977
X-Linked Sideroblastic Anemia
Fatigue, Elevated hepatic transaminase, Glucose intolerance, Abnormality of iron homeostasis, Mus... ORPHA:75563
Flynn-Aird Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Dementia, Type II diabetes mellitus, Scoliosis ORPHA:2047
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis OMIM:176920
Rahman Syndrome
Neonatal hypotonia, Hypertonia, Kyphoscoliosis, Camptodactyly OMIM:617537
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Kyphoscoliosis, Hypotonia, Platyspondyly, Generalized hypotonia, Scolios... OMIM:614856
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia OMIM:609384
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Upper limb hypertonia, Limb dystonia ORPHA:319199
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hypotonia, Myopathy, Scoliosis, Failure to thrive OMIM:618234
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Exercise intolerance, Elevated hepatic transaminase, Progressive external ophthalmoplegia, Impair... OMIM:610131
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hip pain, Hypoplasia of the odontoid process, I... OMIM:184100
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Exercise intolerance, Progressive external ophthalmoplegia, Eleva... OMIM:615084
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior ORPHA:382
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia OMIM:606528
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Hypotonia, Joint contracture, Dystonia, Spasticity OMIM:617664
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Axial muscle weakness, Scoliosis, Arthrogryposis multi... ORPHA:178148
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Kyphosis, Congenital contracture, Hypertonia, Joint contracture of the... ORPHA:352490
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Methioninuria, Hyperhomocystinemia, Scoliosis, Hypermethioninemia, Biconcave vert... OMIM:236200
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Hypotonia ORPHA:1875
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Hypotonia, Decreased liver function, Spasticity, Failure to thrive ORPHA:67048
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Kyphoscoliosis, Hypotonia, Joint contracture, Failure to thrive OMIM:618005
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Kyphoscoliosis, Joint contracture of the hand, Platyspondyly, Sclerotic ... OMIM:208230
Carnitine Palmitoyl Transferase 1A Deficiency
Fatigue, Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia, Sudden cardiac dea... ORPHA:156
Dystonia-Deafness Syndrome 1
Generalized dystonia, Small for gestational age, Oculogyric crisis, Kyphoscoliosis, Leg dystonia OMIM:607371
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Mevalonic Aciduria
Elevated hepatic transaminase, Failure to thrive in infancy, Elevated circulating creatine kinase... OMIM:610377
2P21 Microdeletion Syndrome
Hypoglycemia, Hypotonia, Cystinuria, Hypocalcemia, Failure to thrive ORPHA:163693
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Scoliosis, Abnormality of ... ORPHA:48431
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Obesity, Kyphoscoliosis ORPHA:3077
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Hyperactivity, Aggressive behavior, Increased circulating ACTH level... ORPHA:43
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Kyphoscoliosis, Acute rhabdomyolysis, Cognitive impairment OMIM:604168
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Episodic Ataxia Type 1
Calf muscle hypertrophy, Kyphoscoliosis, Hypertonia, Scoliosis ORPHA:37612
Cdkl5-Deficiency Disorder
Kyphosis, Poor head control, Abnormal muscle tone, Scoliosis ORPHA:505652
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis OMIM:615541
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hypoglycemia, Short neck, Platyspondyly, Generalized hypotonia, Fa... OMIM:618958
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Spinal Arteriovenous Metameric Syndrome
Fatigue, Kyphoscoliosis, Bone pain, Arthralgia, Abnormality of the vertebral column, Gangrene ORPHA:53721
Glycogen Storage Disease Ixa1
Fatigue, Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia, Hypotonia, Hyperurice... OMIM:306000
Microphthalmia, Syndromic 13
Kyphoscoliosis OMIM:300915
Atypical Progressive Supranuclear Palsy Syndrome
Extrapyramidal muscular rigidity, Kyphoscoliosis, Rigidity, Focal dystonia, Ophthalmoparesis, Ble... ORPHA:99750
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Failure to thrive, Elevated circulating branched chain amino acid ... ORPHA:2394
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia, Cognitive impairment,... OMIM:614898
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Flexion contracture, Hypotonia, Kyphoscoliosis ORPHA:75496
Glycogen Storage Disease Ixb
Hypoglycemia, Hypotonia, Increased muscle glycogen content, Hyperuricemia, Muscle weakness OMIM:261750
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... OMIM:609015
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Increased level of gamma-aminobutyric acid in urine, Aggressive behavior, ... OMIM:271980
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Obesity, Camptodactyly, Failure to thrive ORPHA:412035
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Exercise intolerance, Progressive external ophthalmoplegia, Eleva... ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... OMIM:619386
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Axial hypotonia, Abnormality of the musculature of the lower limbs, Urinar... ORPHA:464282
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Kyphoscoliosis, Thenar muscle atrophy, Irregular vertebral endplates, Pl... OMIM:612350
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea... ORPHA:99901
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Kyphoscoliosis, Impaired continence, Spasticity, Spastic gait, Muscle we... ORPHA:447760
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Camptodactyly of finger, Kyphoscoliosis OMIM:610756
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Spastic tetraplegia, Kyphoscoliosis OMIM:300886
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circu... OMIM:608747
Baralle-Macken Syndrome
Urinary incontinence, Kyphosis, Obesity, Dystonia, Neonatal hypotonia, Spasticity OMIM:619255
Cog8-Cdg
Elevated hepatic transaminase, Skeletal muscle atrophy, Poor head control, Hypoglycemia, Infantil... ORPHA:95428
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Proximal muscle weakness, Fatty replacement of skeletal ... OMIM:255995
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Spasticity, Truncal obesity, Scoliosis ORPHA:2429
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Hyp... OMIM:128100
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis, Muscle weakness, Progressive neurologic deterioration ORPHA:85317
Ck Syndrome
Hyperlordosis, Kyphosis, Generalized hypotonia, Scoliosis, Slender build OMIM:300831
Multiple Acyl-Coa Dehydrogenase Deficiency
Exercise intolerance, Elevated hepatic transaminase, Poor head control, Skeletal muscle atrophy, ... ORPHA:26791
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Kyphosis, Muscle weakness, Scoliosis ORPHA:99014
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fatigue, Exercise intolerance, Elevated hepatic transaminase, Hypertriglyceridemia, Abnormal circ... ORPHA:79240
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Axial hypotonia, Kyphoscoliosis OMIM:618339
Galactokinase Deficiency
Psychomotor deterioration, Abnormal circulating enzyme concentration or activity, Small for gesta... ORPHA:79237
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Acute hyperammonemia, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Opi... OMIM:210210
Sialidosis Type 2
Skeletal muscle atrophy, Kyphosis, Flexion contracture, Generalized hypotonia, Muscle weakness ORPHA:87876
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weaknes... OMIM:211530
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Generalized hypotonia, Arthrogryposis... OMIM:615834
Houge-Janssens Syndrome 1
Fatigue, Congenital muscular torticollis, Facial hypotonia, Hypoglycemia, Hypotonia, Generalized ... OMIM:616355
Wieacker-Wolff Syndrome
Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Congenital foot contractu... OMIM:314580
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Generalized hypotonia, Prolonged neonatal jaundice OMIM:618512
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... ORPHA:500180
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... OMIM:617872
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Exercise intolerance, Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle fle... OMIM:618120
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Poor head control, Axial hypotonia, Hypoglycemia, Progressive neur... OMIM:618329
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur... ORPHA:93360
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hypertriglyceridemia, Diabetes mellitus, Kyphosis, Insulin resista... OMIM:615381
Masa Syndrome
Kyphosis, Spastic paraplegia, Lower limb spasticity, Hyperlordosis OMIM:303350
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Hypotonia, Vertebra... OMIM:611209
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Hyperinsulinemia, Obesity, Type II diabetes mellitus ORPHA:3085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hypotonia, Hyperuricemia, Cognitive impairment ORPHA:364
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Proximal muscle we... ORPHA:99956
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Flexion contractur... ORPHA:35173
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Progressive psychomotor deterioration, Hyperinsulinemia, Gait ataxia, Cogn... ORPHA:363400
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fatigue, Exercise intolerance, Elevated hepatic transaminase, Hypertriglyceridemia, Abnormal circ... ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Bulbar palsy, Poor head control, Small for gestational age, Elevated circulating creatine kinase ... OMIM:619055
Autosomal Recessive Ataxia, Beauce Type
Short attention span, Lower limb spasticity, Skeletal muscle atrophy, Urinary incontinence, Kypho... ORPHA:88644
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Camptodactyly of finger, Flexion contracture, Congenital contracture, ... ORPHA:115
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Acrootoocular Syndrome
Small hypothenar eminence, Small for gestational age, Kyphoscoliosis, Small thenar eminence, Abno... ORPHA:2980
Joint Laxity, Short Stature, And Myopia
Cervical kyphosis, Kyphoscoliosis OMIM:617662
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Spinocerebellar Ataxia, Autosomal Recessive 31
Axial hypotonia, External ophthalmoplegia, Lumbar kyphoscoliosis, Dystonia, Muscle weakness OMIM:619422
Monosomy 18P
Generalized dystonia, Hypotonia, Kyphoscoliosis, Short neck ORPHA:1598
Contractural Arachnodactyly, Congenital
Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Elbow flexion contracture... OMIM:121050
Warburg Micro Syndrome 3
Lower limb spasticity, Decreased muscle mass, Axial hypotonia, Kyphoscoliosis, Flexion contractur... OMIM:614222
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Small for gestational age, Ataxia, Failure to thrive in infancy, Gait disturbance,... OMIM:614104
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Obesity, Type II diabetes mellitus, Scoliosis, Abnormal circulating lipid c... ORPHA:3191
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture, Generalized hypotonia OMIM:618658
Emanuel Syndrome
Sacral dimple, Multiple joint contractures, Kyphoscoliosis, Congenital diaphragmatic hernia, Scol... ORPHA:96170
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Flexion contracture, Abnormal form of the vertebral bodies, Arthralgia, Scoliosis... ORPHA:263463
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Paternal Uniparental Disomy Of Chromosome 5
Generalized hypotonia, Kyphoscoliosis ORPHA:96190
Joubert Syndrome 18
Kyphoscoliosis, Camptodactyly OMIM:614815
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Vertebral wedging, Elevated circulating alkaline phosphatase concentration, Bicon... OMIM:610968
Kleefstra Syndrome 2
Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis OMIM:617768
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl... OMIM:617600
Autosomal Recessive Spastic Paraplegia Type 23
Bowel incontinence, Spastic gait, Kyphoscoliosis, Spastic paraplegia ORPHA:101003
Crisponi/Cold-Induced Sweating Syndrome 1
Facial palsy, Kyphoscoliosis, Short neck, Elbow flexion contracture, Opisthotonus, Camptodactyly OMIM:272430
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Flexion ... OMIM:300232
Mucolipidosis Iii Gamma
Increased iduronate sulfatase level, Increased serum beta-hexosaminidase, Hyperlordosis, Short ne... OMIM:252605
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Hypotonia, Cervical spine instability, Platyspondyly, Decreased body weight, Join... OMIM:615349
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Kyphoscoliosis, Hypotonia, Platyspondyly, Vertebral compression fracture, ... OMIM:616507
Alpha-Mannosidosis
Short neck, Kyphosis, Hypotonia, Macroglossia, Type II diabetes mellitus, Scoliosis ORPHA:61
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures ORPHA:3454
Larsen-Like Syndrome
Generalized hypotonia, Hypotonia, Kyphoscoliosis OMIM:608545
Crisponi Syndrome
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Hypertonia, Scolios... ORPHA:1545
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion contracture, Platys... OMIM:184252
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
Carpenter Syndrome
Obesity, Kyphoscoliosis ORPHA:65759
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Impaired glucose tolerance, Kyphosis, Obesity, Glucose intolerance, Hypo... OMIM:219090
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Progressive language deterioration, Abnormal... ORPHA:163681
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Dystonia, Respiratory insufficiency due to muscle weakness, Kyphosis, Ja... OMIM:615512
Mcdonough Syndrome
Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypotonia, General... OMIM:130060
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Failure to thrive, Kyphos... ORPHA:14
Ane Syndrome
Multiple joint contractures, Motor deterioration, Generalized amyotrophy, Kyphoscoliosis ORPHA:157954
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Hypotonia, Macroglossia, Generalized hypotonia OMIM:616455
Winchester Syndrome
Kyphosis OMIM:277950
Chromosome 2P16.1-P15 Deletion Syndrome
Kyphoscoliosis, Hypotonia, Attention deficit hyperactivity disorder, Camptodactyly, Spasticity, J... OMIM:612513
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Short attention span, Thoracic scoliosis, Torticollis, Kyphoscoliosis, Spastic tetraplegia, Spast... ORPHA:300570
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Short neck, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hemivertebr... OMIM:302960
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Bradykinesia, D... OMIM:610217
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... OMIM:212138
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Hypotonia, Scoliosis OMIM:300676
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Flexion contracture, Hypotonia, Generalized hypotonia OMIM:608149
D-Glyceric Aciduria
Axial hypotonia, Hypoglycemia, Reduced hepatic D-glycerate kinase activity, Nonketotic hyperglyci... OMIM:220120
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis, Hypotonia, Macroglossia, Camptodactyly, Spasticity ORPHA:397709
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Diabetes mellitus, Kyphoscoliosis, Camptodactyly, Arthrogryposis multipl... OMIM:601701
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Arthrogryposis, Distal, Type 5
Exercise intolerance, Decreased muscle mass, Kyphosis, Ophthalmoplegia, Hypertonia, Firm muscles,... OMIM:108145
Sialidosis Type 1
Skeletal muscle atrophy, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Aminoaciduri... ORPHA:812
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Hypotonia, Scoliosis ORPHA:1548
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Poor head control, Kyphoscoliosis, Atlantoaxial instability, Hypotonia, ... OMIM:614557
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly OMIM:313420
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Severe muscular hypotonia, R... OMIM:618291
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Tetrasomy 15Q26
Hypotonia, Kyphoscoliosis, Camptodactyly OMIM:614846
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Cervical kyphosis, Kyphoscoliosis, Myopathy, Scoliosis, Arthrogryposis mul... ORPHA:2953
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Decreased circulating cortisol level, Hyperactivity, Ataxia, Confusion, Ina... ORPHA:139396
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Failure to thrive in infancy, Kyphoscoliosis, Hypotonia,... OMIM:615582
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Kyphosis, Hypo... ORPHA:457359
Gm1 Gangliosidosis
Generalized dystonia, Dystonia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypopla... ORPHA:354
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Motor deterioration, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hypotonia, Kyphoscoliosis OMIM:620075
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Distal muscle weakness, Facial palsy, Urinary incontinence, Short neck, Kyphosis... OMIM:301041
Glutaric Acidemia I
Hypoglycemia, Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Generalized hypotonia, Dystoni... OMIM:231670
Lopes-Maciel-Rodan Syndrome
Axial hypotonia, Kyphosis, Hypertonia, Scoliosis, Dystonia, Spasticity OMIM:617435
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... ORPHA:35069
Tatton-Brown-Rahman Syndrome
Obesity, Kyphoscoliosis, Infantile muscular hypotonia ORPHA:404443
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Kyphosis, Hypotonia, Macroglossia, Abdominal obesity, Generalized h... OMIM:300354
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Obsessive-compulsive trait, Dement... ORPHA:168491
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Hydroxyprolinemia, Hypotonia, Elevated circulating alkaline phosphatase concentration, ... OMIM:239000
Alg1-Cdg
Kyphosis, Hypotonia, Hypoalbuminemia, Decreased liver function, Scoliosis ORPHA:79327
Sjögren-Larsson Syndrome
Kyphosis, Hypotonia, Spastic diplegia, Scoliosis, Spasticity ORPHA:816
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestation... OMIM:616026
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Dystonia, Spasticity, Motor deterioration OMIM:312750
Atypical Rett Syndrome
Total ophthalmoplegia, Kyphosis, Hypotonia, Abnormal muscle tone, Scoliosis, Dystonia, Neonatal h... ORPHA:3095
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Flexion contracture, Obesity, Scoliosis, Camptodactyly, N... OMIM:615547
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:620242
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Obesity, Hyperuricemia, Attention deficit hyperactivity disorder, Neonatal hypotonia ORPHA:261222
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Bowel incontinence, Kyphosis, Hypotonia, Scoliosis, Dysto... ORPHA:702
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Scoliosis ORPHA:391307
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Decreased muscle mass, Kyphoscoliosis, Short neck, Hypotonia, Generalized hypotonia, Scoliosis, V... OMIM:309583
X-Linked Intellectual Disability Due To Gria3 Mutations
Axial hypotonia, Distal muscle weakness, Facial hypotonia, Kyphosis, Scoliosis, Spasticity, Abnor... ORPHA:364028
Cardiac-Valvular Ehlers-Danlos Syndrome
Fatigue, Thoracolumbar scoliosis, Kyphoscoliosis, Left ventricular hypertrophy, Tendon rupture ORPHA:230851
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617049
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Hypotonia, Macroglossia, Scoliosis, Infantile muscular h... OMIM:301040
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Solitary Fibrous Tumor
Fatigue, Low back pain, Hypoglycemia, Reduced C-peptide level, Night sweats, Weight loss, Recurre... ORPHA:2126
Pontocerebellar Hypoplasia, Type 10
Axial hypotonia, Kyphoscoliosis, Short neck, Spasticity, Limb hypertonia OMIM:615803
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Contractures of the large joints, Spastic tetraplegia, Kyphoscoliosis ORPHA:324410
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Diabetes mellitus, Kyphoscoliosis, Kypho... ORPHA:536532
19P13.3 Microduplication Syndrome
Kyphoscoliosis ORPHA:447980
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod... OMIM:617865
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Axial hypotonia, Kyphoscoliosis, Platyspondyly, Cervical instability, Thoracolumbar kyphosis OMIM:617425
Geroderma Osteodysplasticum
Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplates, Platyspondyly, Bic... OMIM:231070
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia ORPHA:664
Congenital Disorder Of Glycosylation, Type It
Fatigue, Exercise intolerance, Elevated hepatic transaminase, Hypoglycemia, Elevated circulating ... OMIM:614921
Basilar Impression, Primary
Limb muscle weakness, Kyphoscoliosis, Short neck OMIM:109500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Exercise intolerance, Elevated hepatic transaminase, Axial hypotonia, Hypoglyce... OMIM:124000
Mitochondrial Complex I Deficiency, Nuclear Type 20
Exercise intolerance, Elevated hepatic transaminase, Hypoglycemia, Hypotonia, Generalized hypoton... OMIM:611126
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentration, Thoracol... ORPHA:1159
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Congenital kyphoscoliosis, Multiple joint contractures, Ovoid vertebral bodies, Kyph... ORPHA:536467
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Progressive neurologic deteri... OMIM:615453
Arthrogryposis Multiplex Congenita 5
Dystonia, Kyphoscoliosis, Short neck, Flexion contracture, Elbow flexion contracture, Hypertonia,... OMIM:618947
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Obesity, Hypotonia, Scolios... ORPHA:94065
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... ORPHA:2635
Jaberi-Elahi Syndrome
Appendicular spasticity, Distal muscle weakness, Kyphosis, Hypotonia, Scoliosis, Dystonia, Failur... OMIM:617988
Distal Deletion 12Q
Diabetes mellitus, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Maturity-onset diabe... ORPHA:96149
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Congenital kyphoscoliosis, Kyphoscoliosis, Atlantoaxial instability, Hyp... ORPHA:536545
Kagami-Ogata Syndrome
Poor head control, Diastasis recti, Kyphoscoliosis, Large for gestational age, Short neck ORPHA:254519
Monosomy 18Q
Kyphoscoliosis, Neonatal hypotonia, Atlantoaxial abnormality, Failure to thrive, Slender build ORPHA:1600
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Reduced leukocyte arylsulfatase B a... OMIM:253200
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Spastic diplegia, Irregular... OMIM:607944
Alexander Disease
Diabetes mellitus, Facial palsy, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Bowel... ORPHA:58
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Spasticity, Scoliosis OMIM:610743
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Kyphoscoliosis OMIM:618348
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Hypotonia, Attention deficit hyperactivity disorder OMIM:615433
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... ORPHA:457395
Marshall-Smith Syndrome
Thoracic scoliosis, Axial hypotonia, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:602535
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Failure to thrive, Foot dorsiflexor weakness OMIM:169400
De Barsy Syndrome
Decreased muscle mass, Failure to thrive, Kyphoscoliosis, Infantile muscular hypotonia ORPHA:2962
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Kyphosis, Macroglossia, Scoliosis, Mental deterioration ORPHA:79107
Spondylometaphyseal Dysplasia, Schmidt Type
Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis ORPHA:93316
Fucosidosis
Decreased muscle mass, Kyphosis, Hypotonia, Spastic tetraplegia, Anterior beaking of lumbar verte... ORPHA:349
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Self-mutilation ORPHA:52503
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Ophthalmoplegia, Kyphoscoliosis OMIM:163200
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Abnormal odontoid process morphology, Kyphoscoliosis ORPHA:2976
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Hypotonia, Scoliosis OMIM:619797
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Hypotonia, Opisthotonus, Generalized hypotonia, Failure to th... OMIM:210200
Hemifacial Atrophy, Progressive
Trigeminal neuralgia, Kyphosis OMIM:141300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hypoglycemia, Hypotonia, Hyperglycinuria, Generalized hypotonia OMIM:201450
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Spastic paraplegia, Flexion contracture, Distal amyotrophy, Scoliosis OMIM:609541
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Axial hypotonia, Kyphoscoliosis, Kyphosis, Hypotonia, Left ventricular noncompaction, Generalized... OMIM:300967
Shashi-Pena Syndrome
Hypoglycemia, Kyphosis, Hypotonia, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypertonia OMIM:617190
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis, Cognitive impa... ORPHA:1883
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Chr... OMIM:203800
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis ORPHA:2617
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Portal hypertension, Elevated cir... OMIM:251880
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Failure to thrive, Generalized hypotonia, Short neck OMIM:608776
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Citrullinemia Type Ii
Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Memory imp... ORPHA:247585
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Cognitive impairment, Failure to thrive ORPHA:583
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... OMIM:259600
Isolated Complex I Deficiency
Increased serum pyruvate, Poor head control, Diabetes mellitus, Hypoglycemia, Hypotonia, Failure ... ORPHA:2609
Late-Onset Isolated Acth Deficiency
Hyponatremia, Fatigue, Hypoglycemia, Hypercalcemia, Abdominal pain, Hyperkalemia, Hepatitis, Weig... ORPHA:199299
Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Multiple joint contractures, Kyphoscoliosis, Flexion contracture, Elbo... ORPHA:536471
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Generalized dystonia, Urinary incontinence, Bowel incontinence, Spastic te... ORPHA:171629
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Scoliosis, H... ORPHA:628
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Flexion contracture, Hypotonia, Irregular ver... OMIM:271640
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia, Hypotonia, Fasting hypoglycemia OMIM:613027
You-Hoover-Fong Syndrome
Spasticity, Hypotonia, Kyphoscoliosis OMIM:616954
Acth-Independent Macronodular Adrenal Hyperplasia
Mental deterioration, Kyphosis, Truncal obesity, Skeletal muscle atrophy OMIM:219080
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Short neck, Hyperton... ORPHA:800
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Clark-Baraitser syndrome
Kyphosis, Obesity, Scoliosis OMIM:300602
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Bulbar palsy, Rigidity, Kyphosis, Hypotonia, Contractures of the large joints, Hypertonia, Cognit... OMIM:617527
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Failure to thrive, Distal muscle weakness, Dyston... OMIM:256810
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Axial hypotonia, Kyphosis, Knee flexion contracture OMIM:603387
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Self-injurious behavior, Attention defi... ORPHA:449291
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Camptodactyly of finger, Kyphosis, Abno... ORPHA:2215
Hyperlysinemia
Short attention span, Hyperactivity, Argininuria, Dysmetria, Cystinuria, Tip-toe gait, Hyperlysin... ORPHA:2203
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Obesity, Flexion contracture of toe ORPHA:3409
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Srd5A3-Cdg
Elevated hepatic transaminase, Kyphosis, Abnormal sacrum morphology, Infantile muscular hypotonia ORPHA:324737
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Hypotonia, Cognitive impairment ORPHA:93274
Brain-Lung-Thyroid Syndrome
Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Chorea, Elevated circulati... ORPHA:209905
19P13.12 Microdeletion Syndrome
Short neck, Kyphosis, Hyperlipidemia, Obesity, Hypotonia, Scoliosis, Arthrogryposis multiplex con... ORPHA:254346
Rhizomelic Syndrome, Urbach Type
Abnormal form of the vertebral bodies, Kyphosis, Cognitive impairment, Short neck ORPHA:3098
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Fatigue, Scapular winging, Kyphosis, Hypotonia, Scoliosis, Attention deficit hyperactivity disorder OMIM:617061
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Obesity, Hypotonia, Platyspondyly, Scoliosis, Generalized hy... OMIM:251450
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hip contracture, Kyphoscoliosis, Knee flexion contracture, Hypertonia, Infantile muscular hypoton... ORPHA:488642
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Flexion contracture, Hypotonia, Scoliosis, Attention deficit hyperactivity ... ORPHA:500055
4Q21 Microdeletion Syndrome
Kyphosis, Hypotonia, Scoliosis, Short neck ORPHA:238750
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Infantile muscular hypotonia, Tho... ORPHA:15
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... OMIM:609128
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Arthralgia, Hump-shaped mou... OMIM:313400
Emanuel Syndrome
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Hypotonia, Scoliosis, Join... OMIM:609029
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Encopresis, Obesity, Hypotonia, Scoliosis, Spas... OMIM:618443
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... OMIM:271510
Marden-Walker Syndrome
Decreased muscle mass, Short neck, Kyphosis, Hypotonia, Congenital contracture, Generalized hypot... OMIM:248700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mellitu... ORPHA:398069
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Kyphoscoliosis, Hyperlordosis, Proximal amyotrophy, Neck pain, Muscle weakness ORPHA:653
Acute Adrenal Insufficiency
Hyponatremia, Fatigue, Hypoglycemia, Hypercalcemia, Abdominal pain, Hyperkalemia, Hypotonia, Weig... ORPHA:95409
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Urinary incontinence, Kyphoscoliosi... ORPHA:573278
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Hypotonia, Prominent coccyx, ... OMIM:249420
Cutis Laxa, Autosomal Recessive, Type Iic
Kyphoscoliosis, Gowers sign, Knee flexion contracture, Camptodactyly, Generalized hypotonia, Decr... OMIM:617402
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Hypocalcemia, C... OMIM:618476
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Kyphoscoliosis, Camptodactyly OMIM:616331
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... OMIM:617156
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Bradykinesia, Dementia, Gait distu... OMIM:234200
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypotonia, Hypoplastic vertebral bodies, Decreased beta-galactosidase activ... OMIM:230500
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Verteb... OMIM:259770
Prader-Willi Syndrome
Decreased muscle mass, Failure to thrive in infancy, Kyphosis, Hyperinsulinemia, Obesity, Abdomin... OMIM:176270
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Kyphoscoliosis, Kyphosis, Camptodactyly, Infantile muscular hypotonia ORPHA:3063
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Thoracic scoliosis, Cervical kyphosis, Kyphoscoliosis, Contra... OMIM:114290
Shigellosis
Hyponatremia, Fatigue, Failure to thrive in infancy, Hypoglycemia, Abdominal pain, Rhabdomyolysis... ORPHA:810
Hajdu-Cheney Syndrome
Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies, Cervical instability, Biconcave vertebr... OMIM:102500
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Hypotonia, Platyspondyly, Progressive congenital scoliosis, Muscle weakness OMIM:225400
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Axial hypotonia, Kyphosis, Spastic tetraplegia, Limb hypertonia OMIM:619909
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Hypotonia ORPHA:2655
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis ORPHA:137834
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... ORPHA:93314
Osteogenesis Imperfecta, Type Xx
Vertebral compression fracture, Kyphoscoliosis OMIM:618644
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis, Generalized hypotonia, Camptodactyly, Joint contracture, Failure to thrive OMIM:617403
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bowel incontinence, Kyphosis, Chronic pain, Generalized hypotonia, Scoliosis, Flexion contracture... ORPHA:88628
Plaa-Associated Neurodevelopmental Disorder
Bulbar palsy, Rigidity, Kyphosis, Hypotonia, Progressive spastic quadriplegia, Contractures of th... ORPHA:521426
Williams-Beuren Syndrome
Short attention span, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Kyphoscolio... OMIM:194050
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Kyphoscoliosis, Hypotonia, Knee flexion contracture, Generalized hypotonia OMIM:210730
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... OMIM:143095
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Hypotonia, Scoliosis ORPHA:261144
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Facial palsy, Camptodactyly of finger, Kyphosis, Hypotonia, Scoliosis, Att... ORPHA:261349
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Axial hypotonia, Infantile axial hypotonia, Increased interv... ORPHA:508533
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Vertebral segmentation defect, Gene... ORPHA:263508
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia... ORPHA:2311
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Kyphosis, Flexion contracture, Hypotonia, Hypoalbuminemia, Hypocho... OMIM:212065
Bruck Syndrome
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis ORPHA:2771
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Confusion, Irregular sclerotic endplates, Kyphoscoliosis, Camptodactyly of ... ORPHA:3455
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Hypotonia, Scoliosis, Failure to thrive ORPHA:420794
3Q27.3 Microdeletion Syndrome
Kyphoscoliosis ORPHA:397695
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Hypotonia, Myopathy, Generalized hypotonia... OMIM:162300
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Hemivertebrae, Elbow flexion contracture, Abnorm... OMIM:200980
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... ORPHA:85327
Cockayne Syndrome Type 2
Lower limb spasticity, Axial hypotonia, Kyphosis, Flexion contracture, Scoliosis, Limb hypertonia ORPHA:90322
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon... OMIM:253220
Trisomy 13
Kyphosis, Scoliosis, Hypotonia, Cognitive impairment ORPHA:3378
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Generalized hypotonia, Scoliosis OMIM:618493
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Poor head control, Kyphoscoliosis, Generalized hypotonia, Left ventricular hypertrophy, Failure t... ORPHA:466791
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Hypertonia, ... ORPHA:192
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Hemivertebrae, Vertebral wedging, Scoliosis OMIM:109400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... ORPHA:2916
Postencephalitic Parkinsonism
Camptocormia, Oculogyric crisis, Rigidity, Kyphosis, Generalized muscle weakness, Cogwheel rigidity ORPHA:97349
Cholera
Hyponatremia, Hypoglycemia, Abdominal pain, Abnormal blood ion concentration, Hypokalemia, Abdomi... ORPHA:173
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Macroglossia, ... ORPHA:798
Intellectual Developmental Disorder, Autosomal Recessive 78
Kyphoscoliosis OMIM:620237
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis, Hypotonia, Attention deficit hyperactivity disorder ORPHA:404440
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Bone pain, Abnormality ... ORPHA:1328
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia, Kyphosis, Scoliosis, Attention deficit hyperactivity disorde... ORPHA:476126
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Distal Triplication 15Q
Large for gestational age, Kyphosis, Flexion contracture, Hypotonia, Scoliosis, Camptodactyly ORPHA:314588
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Hurler-Scheie Syndrome
Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange... OMIM:607015
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Small for gestational age, Increased ... OMIM:609152
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Interphalangeal joint contracture of finger, Kyphoscoliosis, Large for gestational age, Short nec... ORPHA:96334
Wrinkly Skin Syndrome
Decreased muscle mass, Kyphoscoliosis, High nonceruloplasmin-bound serum copper, Infantile muscul... ORPHA:2834
Rothmund-Thomson Syndrome, Type 2
Small for gestational age, Kyphoscoliosis OMIM:268400
Trisomy 20P
Camptodactyly of finger, Short neck, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, ... ORPHA:261318
Lowe Oculocerebrorenal Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... OMIM:309000
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Hypotonia, Abnormal form of the verte... ORPHA:2461
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Hypotrophy of the small han... OMIM:610443
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis, Cognitive i... ORPHA:582
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Transient aminoaciduria, Hypoglycemia, Abdominal pain, Jaundice, B... OMIM:229600
Incontinentia Pigmenti
Spasticity, Hemivertebrae, Kyphoscoliosis OMIM:308300
Robinow Syndrome
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Hemivertebrae, Scoliosis ORPHA:97360
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Attenti... OMIM:618050
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Arthralgia, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, ... OMIM:108300
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Bicarbonaturia, Generalized aminoaciduria, Bone pain, Hypophosphatemi... ORPHA:3337
Pigmented Nodular Adrenocortical Disease, Primary, 2
Mental deterioration, Kyphosis, Truncal obesity OMIM:610475
Harrod Syndrome
Kyphosis, Failure to thrive, Scoliosis ORPHA:2115
Sponastrime Dysplasia
Shoulder pain, Lumbar hyperlordosis, Small for gestational age, Kyphoscoliosis, Hyperconvex verte... ORPHA:93357
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Bone pain ORPHA:85193
Choreoacanthocytosis
Chorea, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Self-mutilation o... ORPHA:2388
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... OMIM:253010
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Myositis, Failure to thrive in infancy, Cachexia, Abnormal blood i... ORPHA:37042
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:85293
Mgat2-Cdg
Reduced level of N-acetylglucosaminyltransferase II, Kyphosis, Hypotonia, Generalized hypotonia, ... ORPHA:79329
Melnick-Needles Syndrome
Failure to thrive, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:309350
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Hypotonia, Scoliosis, Biconcave ve... OMIM:130720
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Kniest Dysplasia
Hip contracture, Short neck, Coronal cleft vertebrae, Platyspondyly, Lumbar kyphoscoliosis OMIM:156550
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Arthralgia, Sc... OMIM:177170
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Scoliosis, Skeletal muscle atrophy ORPHA:1969
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Failure to thrive OMIM:617602
3M Syndrome
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
3C Syndrome
Short neck, Kyphosis, Hemivertebrae, Hypotonia, Scoliosis ORPHA:7
Leopard Syndrome 1
Scapular winging, Spina bifida occulta, Kyphoscoliosis, Short neck OMIM:151100
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2789
Cockayne Syndrome
Elevated hepatic transaminase, Skeletal muscle atrophy, Axial hypotonia, Diabetes mellitus, Urina... ORPHA:191
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Camptodactyly of finger, Hypotonia, Scoliosis OMIM:619951
Marfan Syndrome
Decreased muscle mass, Kyphoscoliosis, Flexion contracture, Scoliosis, Camptodactyly, Spondylolis... OMIM:154700
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Generalized hypotonia, Scoliosis, Hyperlordosis OMIM:617821
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Kyphosis, Hypotonia, Scoliosis ORPHA:2479
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Hypotonia ORPHA:1860
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Abnormal curvature of the vertebral column, Hypertonia, Fatigue, Abdominal pain, Overw... OMIM:619475
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Marfan Syndrome
Skeletal muscle atrophy, Arthralgia/arthritis, Chronic fatigue, Cachexia, Kyphosis, Hypotonia, My... ORPHA:558
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Dystonia, Short neck, Kyphosis, Prominent protruding coccyx, Spastic diplegia, Pro... OMIM:300966
Pycnodysostosis
Hyperlordosis, Overweight, Kyphosis, Chronic pain, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:763
Dysostosis, Stanescu Type
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:1798
Hurler Syndrome
Progressive neurologic deterioration, Short neck, Hypoplasia of the odontoid process, Kyphosis, F... OMIM:607014
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Hypotonia, Abnormal form of the vertebral bodies ORPHA:2050
Weaver Syndrome
Diastasis recti, Kyphosis, Hypotonia, Hypertonia, Generalized hypotonia, Scoliosis, Spasticity, J... OMIM:277590
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis ORPHA:3121
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Hypotonia OMIM:616294
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis, Decreased body weight OMIM:182210
Mucolipidosis Type Ii
Hip contracture, Axial hypotonia, Diastasis recti, Kyphosis, Weight loss, Knee flexion contractur... ORPHA:576
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Scoliosis, Attention deficit hyperactivity disorder, Neonatal hypotonia, Decreased body... OMIM:619005
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Short neck... OMIM:265000
Pigmented Nodular Adrenocortical Disease, Primary, 1
Mental deterioration, Kyphosis, Truncal obesity OMIM:610489
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Bone pain, Abn... ORPHA:2062
Mucopolysaccharidosis, Type Ii
Decreased iduronate sulfatase level, Short neck, Kyphosis, Flexion contracture, Macroglossia OMIM:309900
Rett Syndrome, Congenital Variant
Dystonia, Kyphosis, Generalized hypotonia, Scoliosis, Neonatal hypotonia, Spasticity OMIM:613454
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Spasticity, Hypotonia, Scoliosis OMIM:616449
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Hypotonia, Vertebral segmentation defect, Scoliosis ORPHA:96169
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Cohen Syndrome
Failure to thrive in infancy, Kyphosis, Hypotonia, Obesity, Scoliosis ORPHA:193
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Hyperlordosis, Hypotonia, Scoliosis, Attention deficit hyperactivity disorder ORPHA:363700
Noonan Syndrome 14
Kyphosis, Scapular winging, Hypotonia, Short neck OMIM:619745
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Micro Syndrome
Kyphosis, Spasticity, Hypotonia, Scoliosis ORPHA:2510
Mend Syndrome
Sacral dimple, Kyphosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Generalized hy... ORPHA:401973
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Monosomy 9Q22.3
Rhabdomyosarcoma, Large for gestational age, Short neck, Kyphosis, Hypotonia, Abnormality of the ... ORPHA:77301
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Hemivertebrae, Infantile musc... ORPHA:500150
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Kyphoscoliosis, Short neck, Obesity, Macroglossia, Lower limb hypertonia, Infantile muscular hypo... OMIM:309580
Floating-Harbor Syndrome
Short attention span, Small for gestational age, Kyphoscoliosis, Short neck, Attention deficit hy... ORPHA:2044
Alkaptonuria
Vertebral fusion, Low back pain, Diminished physical functioning, Kyphosis, Arthralgia, Thickened... OMIM:203500
Secondary Short Bowel Syndrome
Failure to thrive, Low plasma citrulline, Abnormal blood ion concentration, Weight loss ORPHA:95427
Genitopalatocardiac Syndrome
Kyphosis, Congenital diaphragmatic hernia, Scoliosis ORPHA:2075
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Hypotonia, Scoliosis OMIM:619557
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis, Attention deficit hyperactivity disorder OMIM:618820
Neurofibroma
Spinal canal stenosis, Kyphoscoliosis ORPHA:252183
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Hypotonia OMIM:619244
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder... OMIM:300352
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Kyphosis, Sc... ORPHA:464311
Spondyloenchondrodysplasia
Kyphosis, Hepatitis, Platyspondyly, Myalgia, Spasticity, Lower limb pain ORPHA:1855
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Urinary incontinence, Bowel incontinence, Kyphosis, Platyspondyly OMIM:616482
Atelis Syndrome 2
Kyphosis, Sacral dimple, Hyperinsulinemia, Attention deficit hyperactivity disorder OMIM:620185
Pmm2-Cdg
Elevated hepatic transaminase, Axial hypotonia, Multiple joint contractures, Kyphoscoliosis, Redu... ORPHA:79318
Stickler Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Bone pain, Spinal canal stenosis, Abnormal form of t... ORPHA:828
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Scapular winging, Hypotonia OMIM:616914
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Noonan Syndrome 1
Failure to thrive in infancy, Kyphoscoliosis, Short neck OMIM:163950
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Hypotonia, Fused cervical vertebrae, Vertebral... ORPHA:1724
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Arthralgia, Body odor OMIM:300942
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Hypotonia... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Hypotonia... ORPHA:363958
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Hypotonia, Vertebral segmentation defect, Scoliosis ORPHA:251014
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Hyperlordosis, Kyphosis, Hypotonia, Scoliosis OMIM:617011
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Aspartylglucosaminuria
Aspartylglucosaminuria, Kyphosis, Hypotonia, Spasticity, Macroglossia, Platyspondyly, Spondylolys... OMIM:208400
Microphthalmia, Lenz Type
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:568
Wolf-Hirschhorn Syndrome
Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Hypotonia, Abnormal form of the vertebr... ORPHA:280
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Elevated circulating alpha-fetoprote... OMIM:259050
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Hypotonia, Scoliosis, Spasticity, Contracture of the proximal interphalangeal joint of ... ORPHA:464738
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Hypotonia, Knee flexion contrac... OMIM:619194
Mend Syndrome
Sacral dimple, Axial hypotonia, Kyphosis, Hypotonia, Hypertonia, Failure to thrive OMIM:300960
Restrictive Dermopathy 1
Flexion contracture, Limb joint contracture, Kyphoscoliosis OMIM:275210
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Poland Syndrome
Diabetes mellitus, Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoral... ORPHA:2911
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Neonatal hypotonia, Hypoammonemia, Kyphosis, Hypokalemia, Platyspondyly, Aminoacidu... ORPHA:534
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Skeletal muscle atrophy, Progressive neurologic deterioration, Kyp... ORPHA:90324
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Small for gestational age, Kyphosis, Scoliosis, Failure to thrive, A... ORPHA:464306
Zttk Syndrome
Kyphosis, Flexion contracture, Hemivertebrae, Hypotonia, Scoliosis, Neonatal hypotonia, Spasticit... OMIM:617140
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture, Bone pain, Abdominal pain ORPHA:77259
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Kyphoscoliosis, Short neck, Platyspondyly, Spondylolysis OMIM:304120
Cowden Syndrome 5
Kyphosis, Scoliosis OMIM:615108
Pallister-Killian Syndrome
Sacral dimple, Axial hypotonia, Kyphoscoliosis, Short neck, Congenital diaphragmatic hernia, Flex... OMIM:601803
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261250
Cowden Syndrome 6
Kyphosis, Scoliosis OMIM:615109
Floating-Harbor Syndrome
Kyphoscoliosis, Short neck OMIM:136140
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Cowden Syndrome
Kyphosis, Macroglossia, Scoliosis, Cognitive impairment, Failure to thrive ORPHA:201
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hypotonia, Abnormal form of the vertebral ... ORPHA:818
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Bone pain, Arthralgia, Scoliosis, Biconca... ORPHA:955
Cockayne Syndrome A
Hip contracture, Kyphosis, Dementia, Failure to thrive, Muscle weakness OMIM:216400
Acromegaly
Fatigue, Diabetes mellitus, Kyphosis, Spinal canal stenosis, Macroglossia, Arthralgia ORPHA:963
Somatomammotropinoma
Fatigue, Diabetes mellitus, Kyphosis, Spinal canal stenosis, Macroglossia, Arthralgia ORPHA:314769
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Knee flexion contracture, Kyphosis, Dystonia OMIM:619708
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Monosomy 22Q13.3
Hair-pulling, Agenesis of corpus callosum, Obesity, Impaired pain sensation ORPHA:48652
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
Cowden Syndrome 1
Kyphosis, Scoliosis OMIM:158350
Williams Syndrome
Elevated circulating creatine kinase concentration, Abnormal form of the vertebral bodies, Verteb... ORPHA:904
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Contracture of ... ORPHA:2232
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies ORPHA:2769
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... ORPHA:3042
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Hyperinsulinem... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Hyperinsulinem... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Hyperinsulinem... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Hyperinsulinem... ORPHA:99226
Trichotillomania
Hair-pulling OMIM:613229
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly OMIM:619123
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Kyphoscoliosis, Hypotonia, Spastic diplegia, Generalized hypotonia, Scolios... OMIM:309800
Cockayne Syndrome B
Small for gestational age, Kyphosis, Severe failure to thrive, Failure to thrive, Muscle weakness OMIM:133540
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Hair-pulling, Pain insensitivity, Attention deficit hyperactivity disorder OMIM:620330
Osteogenesis Imperfecta
Small for gestational age, Cervical kyphosis, Trigeminal neuralgia, Kyphosis, Flexion contracture... ORPHA:666
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Kyphosis, Hypotonia, Platyspondyly, Abnormality of the vertebral column,... ORPHA:2273
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Ataxia OMIM:616393
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Decreased muscle mass, Small for gestational age, Kyphosis, Abno... OMIM:194190
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Classic Homocystinuria
Elevated hepatic transaminase, Kyphosis, Scoliosis ORPHA:394
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Hypotonia, Urinary incontinence, Scoliosis OMIM:619482
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Hypotonia, Facial palsy, Scoliosis ORPHA:2658
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... ORPHA:1507
1P36 Deletion Syndrome
Camptodactyly of finger, Kyphosis, Spinal canal stenosis, Obesity, Hypotonia, Myopathy, Scoliosis... ORPHA:1606
Wrinkly Skin Syndrome
Scapular winging, Hypoplasia of the musculature, Kyphosis, Hypotonia, Scoliosis, Failure to thrive OMIM:278250
Ramon Syndrome
Kyphosis, Scoliosis, Decreased body weight OMIM:266270
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Small for gestational age, Failure to thrive in infancy, Kyphosis, Hypertonia, Sco... ORPHA:268261
Occipital Horn Syndrome
Kyphosis, Jaundice, Hepatitis, Hypotonia, Platyspondyly, Scoliosis ORPHA:198
Sotos Syndrome
Sacrococcygeal teratoma, Hip contracture, Hypercalcemia, Ankle flexion contracture, Kyphosis, Bil... ORPHA:821
Cdags Syndrome
Kyphosis OMIM:603116
Coffin-Lowry Syndrome
Kyphosis, Hypotonia, Lumbar kyphosis, Scoliosis, Decreased body weight OMIM:303600
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Decreased circulating ceruloplasmin concentration, Decreased circulating... OMIM:304150
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Proteus Syndrome
Decreased muscle mass, Sudden cardiac death, Cachexia, Kyphosis, Abnormal form of the vertebral b... ORPHA:744
17Q11 Microdeletion Syndrome
Pain, Short attention span, Rhabdomyosarcoma, Kyphosis, Abnormality of the vertebral column, Beak... ORPHA:97685
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling ORPHA:447997
Coffin-Siris Syndrome 1
Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Hypotonia, Scoliosis, Spina bifida occulta OMIM:135900
Neurofibromatosis Type 1
Memory impairment, Kyphosis, Scoliosis, Attention deficit hyperactivity disorder ORPHA:636
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Alström Syndrome
Elevated hepatic transaminase, Thoracic scoliosis, Hypertriglyceridemia, Urinary incontinence, Po... ORPHA:64
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Abnormality of alkaline phosphatase level, Hypoplasia of the odontoid proce... OMIM:300106
Viss Syndrome
Kyphosis, Hypotonia, Macroglossia, Scoliosis, Failure to thrive, Contracture of the proximal inte... OMIM:619472
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Ring Chromosome 7 Syndrome
Lumbar kyphoscoliosis ORPHA:1449
Branchiooculofacial Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture OMIM:113620
Yunis-Varon Syndrome
Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy... 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 Slc6a8

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 Slc6a8.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis. JCI insight (September 2021) Slc6a8tm1a(KOMP)Wtsi PMC8492331
A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism. Frontiers in physiology (June 2018) Slc6a8tm1a(KOMP)Wtsi Slc6a8tm1e(KOMP)Wtsi PMC6036259
A novel mouse model of creatine transporter deficiency. F1000Research (September 2014) Slc6a8tm1a(KOMP)Wtsi PMC4243761

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc6a8tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc6a8tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter