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 |
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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 |
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Distal lower limb amyotrophy, Proximal lower limb amyotrophy, Hip contracture, Distal muscle weak... |
OMIM:600175 |
Central Core Disease |
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Multiple joint contractures, Elevated circulating creatine kinase concentration, Kyphoscoliosis, ... |
ORPHA:597 |
Spastic Paraplegia 18B, Autosomal Recessive |
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Lower limb spasticity, Skeletal muscle atrophy, Kyphosis, Spastic paraplegia, Upper limb spastici... |
OMIM:611225 |
Hyperlysinemia, Type I |
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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 |
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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 |
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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 |
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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 |
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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 |
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Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
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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 |
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Kyphosis, Scoliosis |
OMIM:300861 |
Magel2-Related Prader-Willi-Like Syndrome |
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Kyphosis, Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mellitu... |
ORPHA:398069 |
Multiple Endocrine Neoplasia Type 2 |
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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 |
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Back pain, Abnormal thoracic spine morphology, Low back pain, Urinary incontinence, Kyphoscoliosi... |
ORPHA:573278 |
Frank-Ter Haar Syndrome |
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Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Hypotonia, Prominent coccyx, ... |
OMIM:249420 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Kyphoscoliosis, Gowers sign, Knee flexion contracture, Camptodactyly, Generalized hypotonia, Decr... |
OMIM:617402 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Sclerotic vertebral body, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Hypocalcemia, C... |
OMIM:618476 |
Robinow Syndrome, Autosomal Dominant 2 |
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Sacral dimple, Kyphoscoliosis, Camptodactyly |
OMIM:616331 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... |
OMIM:617156 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Bradykinesia, Dementia, Gait distu... |
OMIM:234200 |
Gm1-Gangliosidosis, Type I |
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Short neck, Kyphosis, Hypotonia, Hypoplastic vertebral bodies, Decreased beta-galactosidase activ... |
OMIM:230500 |
Osteoporosis-Pseudoglioma Syndrome |
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Kyphoscoliosis, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Verteb... |
OMIM:259770 |
Prader-Willi Syndrome |
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Decreased muscle mass, Failure to thrive in infancy, Kyphosis, Hyperinsulinemia, Obesity, Abdomin... |
OMIM:176270 |
X-Linked Intellectual Disability, Snyder Type |
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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 |
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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 |
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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 |
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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 |
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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 |
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Vertebral fusion, Low back pain, Diminished physical functioning, Kyphosis, Arthralgia, Thickened... |
OMIM:203500 |
Secondary Short Bowel Syndrome |
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Failure to thrive, Low plasma citrulline, Abnormal blood ion concentration, Weight loss |
ORPHA:95427 |
Genitopalatocardiac Syndrome |
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Kyphosis, Congenital diaphragmatic hernia, Scoliosis |
ORPHA:2075 |
Marfanoid Habitus With Situs Inversus |
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Kyphosis, Scoliosis |
OMIM:609008 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
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Kyphosis, Bilateral camptodactyly, Hypotonia, Scoliosis |
OMIM:619557 |
Genitourinary And/Or Brain Malformation Syndrome |
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Kyphoscoliosis, Attention deficit hyperactivity disorder |
OMIM:618820 |
Neurofibroma |
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Spinal canal stenosis, Kyphoscoliosis |
ORPHA:252183 |
15Q14 Microdeletion Syndrome |
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Kyphosis, Scoliosis |
ORPHA:261190 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Kyphosis, Hypotonia |
OMIM:619244 |
Cerebral Creatine Deficiency Syndrome 1 |
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Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder... |
OMIM:300352 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Kyphosis, Sc... |
ORPHA:464311 |
Spondyloenchondrodysplasia |
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Kyphosis, Hepatitis, Platyspondyly, Myalgia, Spasticity, Lower limb pain |
ORPHA:1855 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Lumbar hyperlordosis, Urinary incontinence, Bowel incontinence, Kyphosis, Platyspondyly |
OMIM:616482 |
Atelis Syndrome 2 |
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Kyphosis, Sacral dimple, Hyperinsulinemia, Attention deficit hyperactivity disorder |
OMIM:620185 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Axial hypotonia, Multiple joint contractures, Kyphoscoliosis, Redu... |
ORPHA:79318 |
Stickler Syndrome |
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Skeletal muscle atrophy, Cachexia, Kyphosis, Bone pain, Spinal canal stenosis, Abnormal form of t... |
ORPHA:828 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Kyphosis, Scapular winging, Hypotonia |
OMIM:616914 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
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Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Noonan Syndrome 1 |
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Failure to thrive in infancy, Kyphoscoliosis, Short neck |
OMIM:163950 |
Mosaic Trisomy 20 |
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Vertebral fusion, Kyphosis, Spinal canal stenosis, Hypotonia, Fused cervical vertebrae, Vertebral... |
ORPHA:1724 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis, Arthralgia, Body odor |
OMIM:300942 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hand muscle atrophy, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Hypotonia... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hand muscle atrophy, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Hypotonia... |
ORPHA:363958 |
2Q31.1 Microdeletion Syndrome |
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Camptodactyly of finger, Short neck, Kyphosis, Hypotonia, Vertebral segmentation defect, Scoliosis |
ORPHA:251014 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Large for gestational age, Hyperlordosis, Kyphosis, Hypotonia, Scoliosis |
OMIM:617011 |
Holt-Oram Syndrome |
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Kyphosis, Scoliosis |
ORPHA:392 |
Aspartylglucosaminuria |
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Aspartylglucosaminuria, Kyphosis, Hypotonia, Spasticity, Macroglossia, Platyspondyly, Spondylolys... |
OMIM:208400 |
Microphthalmia, Lenz Type |
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Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:568 |
Wolf-Hirschhorn Syndrome |
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Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Hypotonia, Abnormal form of the vertebr... |
ORPHA:280 |
Primrose Syndrome |
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Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Elevated circulating alpha-fetoprote... |
OMIM:259050 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Kyphosis, Hypotonia, Scoliosis, Spasticity, Contracture of the proximal interphalangeal joint of ... |
ORPHA:464738 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Hypotonia, Knee flexion contrac... |
OMIM:619194 |
Mend Syndrome |
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Sacral dimple, Axial hypotonia, Kyphosis, Hypotonia, Hypertonia, Failure to thrive |
OMIM:300960 |
Restrictive Dermopathy 1 |
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Flexion contracture, Limb joint contracture, Kyphoscoliosis |
OMIM:275210 |
Spondyloperipheral Dysplasia |
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Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Poland Syndrome |
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Diabetes mellitus, Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoral... |
ORPHA:2911 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Neonatal hypotonia, Hypoammonemia, Kyphosis, Hypokalemia, Platyspondyly, Aminoacidu... |
ORPHA:534 |
Cockayne Syndrome Type 3 |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Progressive neurologic deterioration, Kyp... |
ORPHA:90324 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Multiple joint contractures, Small for gestational age, Kyphosis, Scoliosis, Failure to thrive, A... |
ORPHA:464306 |
Zttk Syndrome |
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Kyphosis, Flexion contracture, Hemivertebrae, Hypotonia, Scoliosis, Neonatal hypotonia, Spasticit... |
OMIM:617140 |
Gaucher Disease Type 1 |
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Kyphosis, Vertebral compression fracture, Bone pain, Abdominal pain |
ORPHA:77259 |
Otopalatodigital Syndrome, Type Ii |
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Elbow contracture, Kyphoscoliosis, Short neck, Platyspondyly, Spondylolysis |
OMIM:304120 |
Cowden Syndrome 5 |
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Kyphosis, Scoliosis |
OMIM:615108 |
Pallister-Killian Syndrome |
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Sacral dimple, Axial hypotonia, Kyphoscoliosis, Short neck, Congenital diaphragmatic hernia, Flex... |
OMIM:601803 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
16Q24.3 Microdeletion Syndrome |
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Kyphosis, Scoliosis |
ORPHA:261250 |
Cowden Syndrome 6 |
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Kyphosis, Scoliosis |
OMIM:615109 |
Floating-Harbor Syndrome |
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Kyphoscoliosis, Short neck |
OMIM:136140 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Kyphosis, Scoliosis |
OMIM:177850 |
Cowden Syndrome |
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Kyphosis, Macroglossia, Scoliosis, Cognitive impairment, Failure to thrive |
ORPHA:201 |
Smith-Lemli-Opitz Syndrome |
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Congenital diaphragmatic hernia, Short neck, Kyphosis, Hypotonia, Abnormal form of the vertebral ... |
ORPHA:818 |
Hajdu-Cheney Syndrome |
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Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Bone pain, Arthralgia, Scoliosis, Biconca... |
ORPHA:955 |
Cockayne Syndrome A |
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Hip contracture, Kyphosis, Dementia, Failure to thrive, Muscle weakness |
OMIM:216400 |
Acromegaly |
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Fatigue, Diabetes mellitus, Kyphosis, Spinal canal stenosis, Macroglossia, Arthralgia |
ORPHA:963 |
Somatomammotropinoma |
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Fatigue, Diabetes mellitus, Kyphosis, Spinal canal stenosis, Macroglossia, Arthralgia |
ORPHA:314769 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Knee flexion contracture, Kyphosis, Dystonia |
OMIM:619708 |
Osteogenesis Imperfecta, Type Iv |
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Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Monosomy 22Q13.3 |
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Hair-pulling, Agenesis of corpus callosum, Obesity, Impaired pain sensation |
ORPHA:48652 |
Robinow Syndrome, Autosomal Dominant 3 |
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Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly |
OMIM:616894 |
Cowden Syndrome 1 |
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Kyphosis, Scoliosis |
OMIM:158350 |
Williams Syndrome |
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Elevated circulating creatine kinase concentration, Abnormal form of the vertebral bodies, Verteb... |
ORPHA:904 |
Orofaciodigital Syndrome Iii |
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Kyphosis |
OMIM:258850 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Contracture of ... |
ORPHA:2232 |
Familial Osteodysplasia, Anderson Type |
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Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... |
ORPHA:3042 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Hyperinsulinem... |
ORPHA:99413 |
Turner Syndrome |
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Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Hyperinsulinem... |
ORPHA:881 |
Mosaic Monosomy X |
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Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Hyperinsulinem... |
ORPHA:99228 |
Monosomy X |
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Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Hyperinsulinem... |
ORPHA:99226 |
Trichotillomania |
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Hair-pulling |
OMIM:613229 |
Cardiofacioneurodevelopmental Syndrome |
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Kyphosis, Camptodactyly |
OMIM:619123 |
Microphthalmia, Syndromic 1 |
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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 |
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Few cafe-au-lait spots, Hair-pulling, Pain insensitivity, Attention deficit hyperactivity disorder |
OMIM:620330 |
Osteogenesis Imperfecta |
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Small for gestational age, Cervical kyphosis, Trigeminal neuralgia, Kyphosis, Flexion contracture... |
ORPHA:666 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Camptodactyly of finger, Kyphosis, Hypotonia, Platyspondyly, Abnormality of the vertebral column,... |
ORPHA:2273 |
Colchicine Poisoning |
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Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Osteogenesis Imperfecta, Type Viii |
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Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Hair-pulling, Ataxia |
OMIM:616393 |
Wolf-Hirschhorn Syndrome |
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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 |
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Elevated hepatic transaminase, Kyphosis, Scoliosis |
ORPHA:394 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Hypotonia, Urinary incontinence, Scoliosis |
OMIM:619482 |
Lenz-Majewski Hyperostotic Dwarfism |
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Kyphosis, Hypotonia, Facial palsy, Scoliosis |
ORPHA:2658 |
Autosomal Recessive Robinow Syndrome |
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Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... |
ORPHA:1507 |
1P36 Deletion Syndrome |
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Camptodactyly of finger, Kyphosis, Spinal canal stenosis, Obesity, Hypotonia, Myopathy, Scoliosis... |
ORPHA:1606 |
Wrinkly Skin Syndrome |
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Scapular winging, Hypoplasia of the musculature, Kyphosis, Hypotonia, Scoliosis, Failure to thrive |
OMIM:278250 |
Ramon Syndrome |
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Kyphosis, Scoliosis, Decreased body weight |
OMIM:266270 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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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 |