Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... |
ORPHA:435660 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Cidec-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Elevated hepatic transaminase, Short stature, Aggressive behavior, Hyperlipidemia, Hyperinsulinem... |
ORPHA:329249 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Akt2-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Transient Neonatal Diabetes Mellitus |
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Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Short stature, Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hor... |
ORPHA:171706 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Maternal diabetes, Large for gestational age, Increased C-peptide level, Hyperinsul... |
ORPHA:276580 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Large for gestational age, Increased C-peptide level, Hyperinsulinemia, Hypoglycemi... |
ORPHA:276575 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Hyperactivity, Short stature, Small for gestational age, Kyphosis, Increased serum serotonin, Hir... |
ORPHA:85288 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,... |
ORPHA:280365 |
Short Stature Due To Ghsr Deficiency |
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Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Short sta... |
ORPHA:314811 |
Idiopathic Congenital Hypothyroidism |
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Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Increased C-peptide level, Hypogl... |
ORPHA:276556 |
Body Mass Index Quantitative Trait Locus 19 |
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Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Mitochondrial Myopathy With Diabetes |
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Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb ... |
OMIM:500002 |
Plin1-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Obesity And Hypopigmentation |
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Hyperinsulinemia, Polyphagia, Obesity, Red hair, Hepatic steatosis |
OMIM:620195 |
Familial Thyroid Dyshormonogenesis |
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Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Temple Syndrome |
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Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
Laryngeal Neuroendocrine Tumor |
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Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Elevated ca... |
ORPHA:100083 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Lower limb muscle weakness,... |
ORPHA:602 |
Obesity Due To Sim1 Deficiency |
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Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di... |
ORPHA:369873 |
Obesity Due To Congenital Leptin Deficiency |
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Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... |
ORPHA:90674 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Polyglucosan Body Myopathy 2 |
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Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:245400 |
Short Stature Due To Partial Ghr Deficiency |
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Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Growth delay, Delayed ... |
ORPHA:314802 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Short stature, Spinal rigidity, Abnormal muscle fiber mo... |
ORPHA:598 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
Insulin Autoimmune Syndrome |
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Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... |
OMIM:262400 |
Body Mass Index Quantitative Trait Locus 20 |
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Hyperinsulinemia, Polyphagia, Obesity |
OMIM:618406 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:604367 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... |
OMIM:606407 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Decreased serum leptin, Obesity |
OMIM:614962 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg... |
ORPHA:276435 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal g... |
ORPHA:453533 |
Congenital Glucokinase-Related Hyperinsulinism |
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Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Mantle Cell Lymphoma |
|
Fever, Splenomegaly, Anorexia, Weight loss |
ORPHA:52416 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Diabetes mellitus, Dorsocervical fat pad, Short stature, Short neck, Low anterior hairline, Delay... |
OMIM:616033 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... |
OMIM:222100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Spinal rigidity, Centrally nucleated skeletal muscle fiber... |
OMIM:608423 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Low back pain, Fever, Hypoglycemia, Reduced C-peptide level, Weig... |
ORPHA:2126 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... |
OMIM:300718 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia |
OMIM:615026 |
Nonaka Myopathy |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... |
OMIM:605820 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
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Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Elevated circulat... |
OMIM:600175 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... |
OMIM:612526 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Goiter, Elev... |
ORPHA:90673 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Shoulder girdle muscle atrophy, Dysphagia, Weakness of... |
OMIM:181400 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Spastic Paraplegia 18B, Autosomal Recessive |
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Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Short stature, Impulsivity, Kyphosis, Flexion contracture, Obesity,... |
OMIM:615547 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Generalized amyotrophy, Hypothermia |
OMIM:610006 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Increased blood urea nitrogen, Hyperisoleucinemia, Hyperleucinemi... |
OMIM:620085 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen... |
OMIM:300696 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Hypoglycemia, Short stature, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Short stature, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscl... |
OMIM:616209 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... |
ORPHA:178464 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... |
ORPHA:266 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... |
OMIM:608594 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Lower limb muscle weakness, Hyperlordosis, Quadriceps ... |
OMIM:620389 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Hypothermia, Elevated circulating acylcarn... |
ORPHA:159 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu... |
OMIM:616471 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98855 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Elevated ... |
OMIM:620386 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Hypertriglyceridem... |
ORPHA:528 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity... |
OMIM:617404 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... |
ORPHA:2457 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypertriglyceridemia, Hypoglycemia, Short stature |
ORPHA:366 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestation... |
ORPHA:26793 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Dysp... |
OMIM:618323 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... |
OMIM:615381 |
Parastremmatic Dwarfism |
|
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis |
OMIM:168400 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi... |
ORPHA:98863 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... |
OMIM:151660 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Elevated circulating creatine kinase concentration, Short neck, Spinal rigidity, Kyp... |
ORPHA:75840 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia, Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in sk... |
OMIM:614654 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Asympt... |
ORPHA:35878 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Upper limb muscle weakness, Proximal muscle w... |
ORPHA:309169 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Short stature, Distal amyotrophy, Scoliosis, Type 1 muscle... |
OMIM:619042 |
14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ... |
ORPHA:261229 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Pulmonary Blastoma |
|
Fever, Weight loss |
ORPHA:64741 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Elevated circula... |
OMIM:160500 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Fever, Anorexia, Weight loss |
ORPHA:2023 |
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 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Obesity, Polyphagia |
ORPHA:177910 |
Welander Distal Myopathy |
|
Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
Congenital Myopathy 10A, Severe Variant |
|
Elevated circulating creatine kinase concentration, Camptodactyly of finger, Facial palsy, Increa... |
OMIM:614399 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... |
ORPHA:424107 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated ci... |
OMIM:617872 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... |
ORPHA:79083 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cr... |
OMIM:619733 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nucleated skeletal m... |
OMIM:617760 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... |
OMIM:613877 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... |
ORPHA:2348 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia, Hypothermia, Hypoglycemia |
OMIM:601005 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Short stature, Ragged-red muscle fibers, Proximal muscle... |
ORPHA:457050 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Kyphosis, Hyperinsulinemia, Obesity... |
ORPHA:3085 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... |
ORPHA:1979 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Short stature, Kyphosis, Scoliosis, Bruxism, Hirsutism |
OMIM:300434 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Hypogonadism, Polyphagia, Large for gestational age |
OMIM:617119 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Short stature, Hepa... |
ORPHA:369 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Alexander Disease |
|
Diabetes mellitus, Facial palsy, Hypothermia, Short neck, Precocious puberty, Hyperlordosis, Kyph... |
ORPHA:58 |
Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Merrf |
|
Multiple lipomas, Ragged-red muscle fibers, Short stature, Myopathy |
ORPHA:551 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Skeletal muscle atrophy, Hyp... |
ORPHA:17 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Fever, ... |
ORPHA:20 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Idiopathic Achalasia |
|
Weight loss, Decreased prealbumin level, Dysphagia |
ORPHA:930 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Short stature, Hypothermia, Kyphos... |
OMIM:618493 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles, Dysphagia |
OMIM:147421 |
Central Core Disease |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Kyphoscoliosis, ... |
ORPHA:597 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Wei... |
ORPHA:95427 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness o... |
OMIM:618484 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Hyperactivity, Inguinal hernia, Aggressive behavior, Self-injurious behavior, ... |
OMIM:618362 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Short stature, Highly arched eyebrow, ... |
ORPHA:352490 |
Hereditary Central Diabetes Insipidus |
|
Fever, Weight loss, Growth delay, Polydipsia, Diabetes insipidus |
ORPHA:30925 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Dysphagia, Myopathy, Congenital contracture, Typ... |
OMIM:605637 |
Central Diabetes Insipidus |
|
Fever, Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus |
ORPHA:178029 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Increased body weight, Compulsive behaviors, Hypothalamic luteinizing hormon... |
ORPHA:398069 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Flexion contracture, Scolios... |
OMIM:300717 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... |
OMIM:609524 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Incr... |
OMIM:616852 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia, Short stature, Acute rhabdo... |
ORPHA:48431 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Scoliosis, Dysphagia, Type 1 ... |
OMIM:161800 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Kyphosis, Attention deficit hyperactivity disorder, Facial myokymia, Failure to th... |
OMIM:620007 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... |
ORPHA:525731 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... |
OMIM:618848 |
Rett Syndrome |
|
Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Agitation, Cholecystitis, Incr... |
ORPHA:778 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Postnatal growth retardation, H... |
OMIM:246200 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Spinal rigidity, Overweight, Centrally nucleated skeletal muscle fib... |
ORPHA:486815 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hypothermia, Insulin resistance, Elevated circulating creatinine concentration, Hyp... |
ORPHA:230 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Elevated circulating creatine kinas... |
OMIM:606612 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... |
OMIM:603511 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... |
ORPHA:488650 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty repla... |
OMIM:620249 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Short stature, Elevated circulating creatine kinase concentration, Kyphosco... |
OMIM:619542 |
Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... |
ORPHA:270 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... |
ORPHA:79237 |
Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Short stature, Splenomega... |
ORPHA:1133 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Elevated circulating creatine kinase concentration, Spinal mus... |
OMIM:615290 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Decreased response to growth hormone stimulation test, Hypogonadotropic hy... |
OMIM:176270 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Bile duct proliferation, Macrovesicular... |
OMIM:618329 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, G... |
ORPHA:228402 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... |
OMIM:160150 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia, Limb hypertonia |
OMIM:614498 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia... |
OMIM:500009 |
Tuberculosis |
|
Fever, Weight loss |
ORPHA:3389 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Spinal rigidity, Flexion contracture, Neuromuscular dysphagia, Increased muscle... |
ORPHA:171439 |
Menkes Disease |
|
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Short stature, Hypothe... |
OMIM:309400 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fever, Hepatomegaly, Anorexia, Splenomegaly, Weight loss |
ORPHA:86893 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th... |
OMIM:218700 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... |
OMIM:617069 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Elevated circula... |
OMIM:167320 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Short stature, Precocious puberty, Insulin-resistant dia... |
OMIM:262190 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:601846 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
Muscle Filaminopathy |
|
Back pain, Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal mu... |
ORPHA:171445 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea... |
OMIM:618129 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, E... |
OMIM:619566 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hyperactivity, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:248370 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypoglycemia, Small for gestational age, Short stature, Postnatal growth retardati... |
ORPHA:73272 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion cont... |
OMIM:617114 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... |
ORPHA:254531 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
OMIM:619473 |
Congenital Myopathy 3 With Rigid Spine |
|
Short stature, Facial palsy, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Flexion... |
OMIM:602771 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... |
ORPHA:79086 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short stature, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Type II... |
ORPHA:3191 |
Myopathy, Myofibrillar, 2 |
|
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... |
OMIM:608810 |
Kleine-Levin Syndrome |
|
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... |
ORPHA:33543 |
Tenorio Syndrome |
|
Hypoglycemia, Macroglossia, Scoliosis, Hypoinsulinemia, Thick eyebrow, Hypertrichosis |
OMIM:616260 |
Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Short stature, Abnormal hair morphology, Weight loss, Generalized hi... |
ORPHA:317 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness |
OMIM:617087 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula... |
OMIM:300942 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Inguinal hernia, Small for gestational age, Short stature, Highly arched eyebrow, ... |
OMIM:615834 |
Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Reduced circulating prolactin concentration, Increased blood urea nitro... |
OMIM:223360 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Centra... |
ORPHA:86812 |
Inflammatory Pseudotumor Of The Liver |
|
Fever, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated... |
ORPHA:90003 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Camptodactyly |
OMIM:618453 |
Chronic Hiccup |
|
Weight loss, Abnormality of the diaphragm, Abnormal eating behavior |
ORPHA:396 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Decreased body weight |
OMIM:618392 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Short stature, Elevated circulating crea... |
OMIM:248800 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... |
ORPHA:199299 |
Hypotonia-Cystinuria Syndrome |
|
Growth delay, Failure to thrive, Polyphagia |
ORPHA:163690 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Synophrys, Growth delay, Inappropriate laughter, Scoliosis, Bruxism, Stereotypical hand... |
ORPHA:505652 |
Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... |
ORPHA:40 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased connective... |
OMIM:253601 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Failure to thrive, Multiple joint contractures, Foot joint contr... |
ORPHA:536516 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Elevated circulating cr... |
OMIM:232400 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Myopathy, Distal, Tateyama Type |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:614321 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:255310 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased muscle mass, Hypergonadotropic hypogonadism, Hypogonadot... |
ORPHA:298 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Precocious puberty, ... |
ORPHA:398079 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Cachexia, Abnormality of the thyroid gland, Kyphosis, Primary ... |
ORPHA:2047 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, Upper limb muscle w... |
ORPHA:171442 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Short stature, Abnormality of the thyroid gland, Synophrys, ... |
OMIM:182290 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragg... |
OMIM:617070 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Meningococcal Meningitis |
|
Fever, Elevated circulating C-reactive protein concentration, Hypothermia, Anorexia |
ORPHA:33475 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Thick eyebrow, Hyperthyroidism, Decreased response to growth hormone sti... |
ORPHA:488632 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Alope... |
OMIM:618775 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Kyphosis, Obesity, Scoliosis, Delayed puberty, Scheuermann-like vertebral changes,... |
OMIM:301900 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia |
OMIM:615986 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Facia... |
ORPHA:353327 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Flexion contracture, Increase... |
OMIM:607855 |
Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Increased insulin like growth factor binding protein acid labile su... |
OMIM:619489 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... |
OMIM:254090 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Elevated circulating creat... |
ORPHA:353 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Dysphagia, Weakness of facial mu... |
OMIM:620265 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... |
OMIM:614736 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis |
ORPHA:2598 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog... |
OMIM:300559 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... |
OMIM:203800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Hypothermia |
OMIM:616501 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Diabetes mellitus, Short stature, Decreased response to growth hormone ... |
ORPHA:739 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Growth delay, Generalized ... |
OMIM:613561 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Myopathy, Intrauterine growth retardation, Failure to thrive |
OMIM:618237 |
O'Donnell-Luria-Rodan Syndrome |
|
Aggressive behavior, Kyphosis, Self-injurious behavior, Skin-picking, Prolonged neonatal jaundice |
OMIM:618512 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Fever, Hyponatremia, Elevated circulating creatine kinase concentr... |
ORPHA:94093 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... |
OMIM:611705 |
Vipoma |
|
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live... |
ORPHA:97282 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
6Q16 Microdeletion Syndrome |
|
Thick eyebrow, Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Hypothyroidis... |
OMIM:610883 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased mus... |
ORPHA:465508 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair... |
ORPHA:79474 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Myopathy, Limb... |
OMIM:612937 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... |
ORPHA:97240 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, Ad... |
ORPHA:95409 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Spinal rigidity, Angulated muscle fibers, Muscular dy... |
OMIM:617066 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Congenital Enterovirus Infection |
|
Fever, Hypothermia, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure |
ORPHA:292 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... |
OMIM:271530 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration,... |
OMIM:219080 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay |
ORPHA:79238 |
Late-Onset Familial Hypoaldosteronism |
|
Fever, Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticoster... |
ORPHA:556037 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... |
ORPHA:352447 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... |
ORPHA:97289 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy |
ORPHA:157973 |
Somatostatinoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... |
ORPHA:97283 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Aggressive behavio... |
ORPHA:905 |
Cebalid Syndrome |
|
Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... |
OMIM:255200 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Type 1 muscle ... |
OMIM:608340 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... |
OMIM:618138 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:310440 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Growth delay, Hypothermia |
ORPHA:168593 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Kyphosis |
ORPHA:796 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Hypothermia, Low plasma citrulline, Ragged-red muscle fibers, Dysphagia, Hep... |
ORPHA:255210 |
Angelman Syndrome |
|
Hyperactivity, Fair hair, Precocious puberty in females, Aggressive behavior, Tongue thrusting, O... |
ORPHA:72 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Mildly elevated creatine kin... |
ORPHA:399086 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hyperactivity, Short neck, Precocious puberty, Kyphosis, Hyperlipidemia, Synop... |
ORPHA:254346 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Spinal rigidity, Centrally ... |
OMIM:617258 |
Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair |
ORPHA:2574 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... |
OMIM:613530 |
Menkes Disease |
|
Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Hypothermia, Woolly hair, Aplasia/Hypopl... |
ORPHA:565 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis |
OMIM:616756 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating ... |
OMIM:608747 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration |
OMIM:609500 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... |
ORPHA:610 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... |
ORPHA:171876 |
Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchyma morphology, Weight loss, Pheoch... |
ORPHA:1332 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circ... |
ORPHA:42 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Restlessness, D... |
ORPHA:247585 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Wolman Disease |
|
Fever, Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Growth delay, Adrenal insuffi... |
ORPHA:75233 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Abnormal muscle fiber morphology, Adrenocortical adenoma, Increased intramy... |
ORPHA:681 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Thoracic scoliosis, Muscle fiber hyaline bodies, Short stature, Elevated circulating creatine kin... |
OMIM:255160 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Decreased muscle mass, Lipoatrophy, Kyphosis, Abnormality of the... |
ORPHA:349 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Spinal rigidity, Increas... |
ORPHA:324604 |
Ck Syndrome |
|
Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Scoliosis, Slender build |
OMIM:300831 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... |
OMIM:255320 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Li... |
ORPHA:97229 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort... |
ORPHA:1227 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ... |
ORPHA:97278 |
Man1B1-Cdg |
|
Long eyebrows, Short neck, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long... |
ORPHA:397941 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Trisomy 18P |
|
Short stature, Facial palsy, Highly arched eyebrow, Attention deficit hyperactivity disorder, Int... |
ORPHA:1715 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... |
OMIM:615084 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hypothermia, Jaundice, Hyperammonemia, H... |
ORPHA:79282 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, ... |
OMIM:226670 |
Alpha-Mannosidosis |
|
Hepatomegaly, Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Macroglossia, Type II diabetes... |
ORPHA:61 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
ORPHA:254864 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa... |
ORPHA:85138 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Increased variab... |
ORPHA:401768 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short stature, Highly arched eyebrow, Aggressive behavior, Postnatal growth retardation, Hemivert... |
OMIM:156200 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Kyphosis, Synophrys, Flexion contracture, Low anterior hairline, Long eyelashes, Faci... |
OMIM:618658 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... |
ORPHA:54595 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... |
OMIM:619790 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss, Dysphagia |
ORPHA:2198 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Obesity, Spinal canal stenosis, Congenital hypothyroidism, Red ... |
OMIM:614613 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... |
ORPHA:769 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Severe short stature, Lipoatrophy, Kyphosis, Low posterior hairline, Prem... |
ORPHA:2617 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Elevated circulating growth hormone concentration, Anorexia, Increased circulating ... |
ORPHA:97287 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... |
OMIM:603689 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Abnormal dental enamel morphology, Hypercalcemia, Obesity, Increased blood urea ni... |
ORPHA:251004 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy, Hypogonadism |
ORPHA:1875 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Thick hair, Kyphosis, Jaun... |
ORPHA:198 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation |
ORPHA:2576 |
Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver... |
ORPHA:65682 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Dysphagia, Upper limb muscle weakness, Lower limb hypertonia, Scoliosis... |
ORPHA:99013 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive |
OMIM:618234 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short statu... |
ORPHA:98908 |
Dpm3-Cdg |
|
Elevated hepatic transaminase, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle ... |
ORPHA:263494 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Alopecia, Severe short stature, Diabetes mellitus, Abnormal hairshaft mo... |
ORPHA:3242 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... |
OMIM:306000 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... |
ORPHA:178148 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Abnormal muscle fiber morphology, Camptodactyly of toe, Umbilical hernia, Hyperg... |
OMIM:175700 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Short stature, Splenomegaly, Kyphosis, Fl... |
ORPHA:87876 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Short stature, Obesity, Scoliosis |
ORPHA:276630 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Increased circu... |
OMIM:219090 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Hyperactivity, Short stature, Aggressive behavior, Kyphosis, Macrog... |
OMIM:300354 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Short stature, Impulsivity, Aggressive behavior, Frequent temper ... |
OMIM:620141 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... |
OMIM:616924 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Spinal rigidity, Elevated circulating creatin... |
OMIM:617072 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Myopathy, Diabetes mellitus, Left ventricular hypertrophy |
OMIM:540000 |
Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Diabetes mellitus, Elevat... |
ORPHA:206572 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Severe shor... |
ORPHA:3163 |
Christianson Syndrome |
|
Decreased muscle mass, Cachexia, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex cong... |
ORPHA:85278 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... |
ORPHA:100085 |
Grfoma |
|
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... |
ORPHA:97261 |
Ethylene Glycol Poisoning |
|
Cyanosis, Facial palsy, Hypothermia, Hyperkalemia, Addictive alcohol use, Hypocalcemia |
ORPHA:31826 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Short stature, Postnatal growth retardation, Thyroiditis... |
OMIM:212750 |
Mcdonough Syndrome |
|
Short stature, Cachexia, Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculatur... |
ORPHA:2471 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:620235 |
Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, Short neck, Kyph... |
ORPHA:171436 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow |
ORPHA:2429 |
Kleefstra Syndrome 2 |
|
Kyphosis, Growth delay, Self-injurious behavior, Scoliosis, Thick eyebrow |
OMIM:617768 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Facial diplegia, Scoliosis, Arthrogryposis multipl... |
OMIM:611890 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles, Highly arched eyebrow |
OMIM:609384 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Knee flexion contractur... |
OMIM:313420 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... |
ORPHA:94065 |
Reticular Dysgenesis |
|
Fever, Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss |
ORPHA:33355 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hypoalbuminemia, H... |
ORPHA:79319 |
Miyoshi Muscular Dystrophy 1 |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... |
OMIM:254130 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... |
ORPHA:264580 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Hypercalcemia, El... |
ORPHA:97280 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Hyperlordosis, Splenomegaly, Kyphosis, A... |
ORPHA:354 |
Immunodeficiency 27A |
|
Fever, Anorexia, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypoalbuminemia |
OMIM:209950 |
Polymyositis |
|
Fever, Hepatomegaly, Elevated circulating creatine kinase concentration, Anorexia, Abnormal muscl... |
ORPHA:732 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Back pain, Fever, Hypoglycemia, Elevated circulating creatine kina... |
ORPHA:99826 |
Kearns-Sayre Syndrome |
|
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Anterior hypopituitarism, Ra... |
ORPHA:480 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Rhizomelia, Short neck, Weight loss, Severe short-limb dwarfism, Hernia, Failure to... |
ORPHA:1842 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature adrenarche, Hyponatremia, Hypogonadotropic hypogo... |
ORPHA:90794 |
Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... |
ORPHA:2905 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Weight loss, Cellulitis, Muscular edema, Acrocyanosis |
ORPHA:3165 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556030 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Hypoalbuminemia... |
ORPHA:507 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio... |
OMIM:234250 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Short... |
ORPHA:79240 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Left ventricular hypertrophy, Elevated circulating aspartate amino... |
OMIM:300280 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... |
OMIM:609286 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, At... |
ORPHA:100080 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Inguinal hernia, Short stature, Camptodactyly of finger, Cachexia, Aggressive beha... |
ORPHA:85293 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Fever, Weight loss |
ORPHA:100024 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty replaceme... |
ORPHA:52430 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Severe short stature, Proportionate short stature, Weight loss, Knee fle... |
ORPHA:3208 |
Winchester Syndrome |
|
Kyphosis, Hirsutism |
OMIM:277950 |
Cryptogenic Organizing Pneumonia |
|
Fever, Cyanosis, Anorexia, Elevated circulating C-reactive protein concentration, Weight loss, Hy... |
ORPHA:1302 |
X-Linked Agammaglobulinemia |
|
Fever, Alopecia, Short stature, Hepatitis, Weight loss, Hypocalcemia, Cellulitis, Failure to thrive |
ORPHA:47 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal growth spurt, P... |
ORPHA:464282 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Torticollis, Elevated ca... |
ORPHA:370348 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Skeletal muscle hypertrophy, C... |
OMIM:613157 |
Luscan-Lumish Syndrome |
|
Short stature, Aggressive behavior, Obesity, High anterior hairline, Polyphagia, Hirsutism |
OMIM:616831 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyper... |
OMIM:602579 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia,... |
ORPHA:1333 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Hand muscle w... |
ORPHA:254886 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Short sta... |
OMIM:613986 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Lipoatrophy, Short stature, Decreased serum leptin, Sparse eyelashes... |
OMIM:614008 |
Beta-Ketothiolase Deficiency |
|
Fever, Hepatomegaly, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemi... |
ORPHA:134 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Corneal scar... |
ORPHA:642 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... |
OMIM:619487 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Short stature, Cachexia, Precocious puberty,... |
ORPHA:813 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Hyperlordosis, Increased circulating ferritin concentration, Ragged-red muscle ... |
OMIM:600462 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Ragged... |
OMIM:258450 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Skeletal muscle atrophy, Facial hypertrichosis... |
ORPHA:508 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:610542 |
Classic Hodgkin Lymphoma |
|
Fever, Hepatomegaly, Anorexia, Splenomegaly, Weight loss |
ORPHA:391 |
Metatropic Dysplasia |
|
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... |
OMIM:156530 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Growth delay, Hypothermia |
OMIM:608800 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
OMIM:620138 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Elevated circulating creatine kinase concentration, Centrally nucleated skeletal m... |
OMIM:619518 |
Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long e... |
OMIM:616455 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of l... |
OMIM:230650 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Dysphagia |
ORPHA:50251 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Diencephalic Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight |
ORPHA:1672 |
Progressive Nodular Histiocytosis |
|
Fever, Cachexia |
ORPHA:158022 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Platyspondyly |
ORPHA:2786 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Kyphoscoliosis, Congenital diaphragmatic hernia, Obesity, Camptodac... |
ORPHA:412035 |
Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:619040 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Masa Syndrome |
|
Kyphosis, Short stature, Hyperlordosis |
OMIM:303350 |
Focal Myositis |
|
Fever, Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Bruxism, Agitation, Scoliosis, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Caroli Disease |
|
Fever, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexi... |
ORPHA:53035 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Short stature, Impulsivity, Aggressive behavior, Overweight, Kyphosis, Flexion... |
ORPHA:500055 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Rhabdomyolysis, Hyp... |
OMIM:618416 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Short stature, Cachexia, Short neck, Elbow flexion contracture, Knee flexion con... |
ORPHA:371364 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Hyperactivity, Sacral dimple, Congenital diaphragmatic hernia, Ag... |
ORPHA:96121 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Fever, Exercise-induced rhabdomyolysis, Decreased muscle mass, Hyperkalemia, Growth delay, EMG: m... |
ORPHA:57 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Flexion contracture, Hypothermia, Dysphagia |
ORPHA:99027 |
Alexander Disease Type I |
|
Cachexia, Failure to thrive, Scoliosis, Dysphagia |
ORPHA:363717 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia, Limb hypertonia |
ORPHA:500180 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... |
OMIM:620351 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebr... |
OMIM:252930 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Ankle flexion contracture, Hypercapnia, Hyperlordosis, Kyphos... |
ORPHA:2020 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Lumbar hyperlordosis, Short neck, Aggressive behavior, Postnatal growth retardation... |
ORPHA:251028 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of temperature regulation, Weight loss |
ORPHA:42642 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Fever, Weight loss |
ORPHA:545 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Fever, Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jau... |
ORPHA:90790 |
Rhabdoid Tumor |
|
Fever, Neoplasm of the liver, Hypercalcemia, Weight loss |
ORPHA:69077 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Scoliosis, Recurrent hand... |
OMIM:617600 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha... |
OMIM:620285 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis, Compulsive b... |
OMIM:615761 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... |
OMIM:607155 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Short stature, Hyperlordosi... |
ORPHA:3068 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Moderate... |
ORPHA:69076 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, At... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, At... |
ORPHA:100082 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Short stature, Postna... |
OMIM:616113 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc... |
OMIM:130060 |
4Q21 Microdeletion Syndrome |
|
Short neck, Kyphosis, Synophrys, Growth delay, Self-injurious behavior, Long eyelashes, Scoliosis... |
ORPHA:238750 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Motor tics |
OMIM:500003 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Short stature, Kyphosis, Scoliosis, Delayed puberty |
OMIM:180870 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Short stature, Kyphosis, Obesity, Scoliosis, Foot dorsiflexor weakness |
OMIM:618124 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Short neck, Sple... |
OMIM:611881 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Cyanosis, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Elevated cir... |
OMIM:618838 |
Whipple Disease |
|
Fever, Hepatomegaly, Hyponatremia, Myositis, Anorexia, Cachexia, Splenomegaly, Insulin resistance... |
ORPHA:3452 |
Juvenile Huntington Disease |
|
Hyperactivity, Weight loss |
ORPHA:248111 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Abnormal skeletal muscle morphology, Anaplastic thyroid carcinoma, Dysphagia, Nodula... |
ORPHA:142 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Ragged-red muscle fibers |
OMIM:616794 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes... |
OMIM:609560 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Ragged-red muscle fibers |
OMIM:615159 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Short neck, Scoliosis,... |
OMIM:616801 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Inc... |
OMIM:252011 |
Sarcoidosis |
|
Fever, Hepatomegaly, Alopecia, Hyperthyroidism, Diabetes insipidus, Scarring, Portal hypertension... |
ORPHA:797 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Intermittent hypothermia, Tongue thrusting, Temperature instability, Limb hypertonia |
OMIM:608643 |
Atypical Rett Syndrome |
|
Restrictive behavior, Kyphosis, Tongue thrusting, Growth delay, Agitation, Inappropriate laughter... |
ORPHA:3095 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Multicentric Reticulohistiocytosis |
|
Fever, Cachexia |
ORPHA:139436 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Upper limb hypertonia |
ORPHA:319199 |
Myopathy, Centronuclear, 4 |
|
Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n... |
OMIM:614807 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Primary hyperparathyroidism, Abnormal parathyroid morph... |
ORPHA:143 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Dysphagia |
ORPHA:477774 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Short stature, Hypothermia, Decreased serum iron, Abnormality of the endocrine system, Precocious... |
ORPHA:438213 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:101078 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Self-inju... |
ORPHA:449291 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Multiple lipomas, Ragged-red muscle fibers, Increased adipose tissue |
ORPHA:1349 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... |
OMIM:609152 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Alveolar Echinococcosis |
|
Fever, Low back pain, Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal... |
ORPHA:284 |
Weaver Syndrome |
|
Inguinal hernia, Diastasis recti, Kyphosis, Fine hair, Scoliosis, Camptodactyly, Sparse hair, Umb... |
OMIM:277590 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Short stature, Thick hair, Increased variability in muscle fiber diameter, Growt... |
ORPHA:502423 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss |
ORPHA:388 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... |
ORPHA:2635 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of secondary sex... |
ORPHA:785 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Goiter |
OMIM:188580 |
Urban-Rogers-Meyer Syndrome |
|
Short stature, Camptodactyly of finger, Short neck, Kyphosis, Obesity, Hypogonadism, Flexion cont... |
ORPHA:3409 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Hypothyroidism, Mildly elevated... |
ORPHA:663 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Large for gestational age, Centrally nucleated skeletal ... |
ORPHA:169189 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Myopathy, Abnormal circulating creati... |
ORPHA:369840 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... |
ORPHA:171881 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Adrenal insufficiency, Disi... |
ORPHA:43 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Male hypogonadism, ... |
OMIM:219800 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Growth delay, Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Hernia, Weight loss |
ORPHA:26790 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration... |
OMIM:261680 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Abnormal repetitive manne... |
ORPHA:1606 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Hyperactivity, Splenomegaly, Synophrys, Ovoid thoracolumbar verteb... |
OMIM:252900 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Increased circulating ACTH level, Weight l... |
ORPHA:100075 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Cachexia, Anorexia, Splenomegaly, Dystrophic toenail, Patchy alopecia, Dy... |
ORPHA:2930 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Facial palsy... |
OMIM:615873 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral b... |
OMIM:252940 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia, Short stature |
ORPHA:66518 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Failure to thrive, Flexion contracture, Elevated circulating creatine kinas... |
OMIM:620240 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Small hypothenar eminence, Streak ovary, Lumbar hy... |
ORPHA:2232 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle wea... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle wea... |
ORPHA:98914 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Short stature, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, ... |
OMIM:301041 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Short stature, Abnormal dental enamel morphology, Scoliosis |
ORPHA:816 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement... |
ORPHA:329478 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Scolio... |
OMIM:619574 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Short stature, Kyphosis, Distal arthrogryposis, Firm muscles, Scoliosis, C... |
OMIM:108145 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Scarring, Kyphosis, Flexion contracture, Limb hypertonia, Scoliosis, Male hypogonad... |
ORPHA:90322 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Flexion contracture, Malignant hyperthermia, Scoliosis |
ORPHA:1545 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Short stature, Elevated circulating creatine kinase concentration, Thick hair, G... |
OMIM:617675 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Di... |
ORPHA:300605 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Nodular Non-Suppurative Panniculitis |
|
Fever, Hepatomegaly, Splenomegaly, Weight loss, Panniculitis |
ORPHA:33577 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Thick eyebrow, Aggressive behavior, Kyphosis, Synophrys, Low anterior hairline,... |
OMIM:617061 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Generalized amyotrophy, Neoplasm of the... |
ORPHA:171 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Synophrys, Scoliosis, Hypertrichosis |
ORPHA:85317 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, ... |
OMIM:253220 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Bruck Syndrome 1 |
|
Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V... |
OMIM:259450 |
Adnp Syndrome |
|
Sparse scalp hair, Inguinal hernia, Short stature, Aggressive behavior, Oral-pharyngeal dysphagia... |
ORPHA:404448 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Becker Nevus Syndrome |
|
Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle mus... |
ORPHA:64755 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,... |
ORPHA:440437 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... |
OMIM:616479 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Steatorrhea, Weight loss, Hypoalbuminemia,... |
ORPHA:2070 |
Rett Syndrome |
|
Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis, Bruxism, Stereotypical han... |
OMIM:312750 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Thenar muscle atrophy, Con... |
OMIM:607015 |
Acute Monoblastic/Monocytic Leukemia |
|
Fever, Weight loss, Anorexia, Central hypothyroidism |
ORPHA:514 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Short stature, Hypo... |
OMIM:616026 |
Wieacker-Wolff Syndrome |
|
Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, D... |
OMIM:314580 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Anorexia, Hyperammonemia, Weight loss, Growth delay |
ORPHA:79242 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Fever, Panniculitis, Hepatosplenomegaly |
ORPHA:86884 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc... |
ORPHA:169186 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Abnormal ha... |
ORPHA:324737 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Short stature, Splenomegaly, Kyphosis, Abnormal form of the vertebral bo... |
ORPHA:812 |
Majeed Syndrome |
|
Fever, Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive |
ORPHA:77297 |
Snakebite Envenomation |
|
Hyponatremia, Rhabdomyolysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Muscle fiber necro... |
ORPHA:449285 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Short stature, ... |
OMIM:232200 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Short neck, Obesity, Weight loss, Growth delay, A... |
ORPHA:251071 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... |
ORPHA:424 |
Takayasu Arteritis |
|
Fever, Anorexia, Weight loss |
ORPHA:3287 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine ... |
ORPHA:254892 |
Immunodeficiency 31C |
|
Fever, Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Short stature, Splenomegaly, Wei... |
OMIM:614162 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E... |
OMIM:609452 |
Mucolipidosis Iii Gamma |
|
Short stature, Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
OMIM:252605 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of... |
ORPHA:1883 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
Kaposi Sarcoma |
|
Fever, Abnormality of the spleen, Abnormality of the liver, Weight loss |
ORPHA:33276 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger,... |
ORPHA:2311 |
Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Frontal balding, Weakness of facial musculatu... |
OMIM:602668 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Facial palsy, Supernumerary nipple, Sparse eyebrow, Kyp... |
ORPHA:261349 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Ty... |
OMIM:613845 |
Pycnodysostosis |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Decreased response to growth hormone st... |
ORPHA:763 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Thoracic scoliosis, Nemaline bodies, Abnormality of skeletal muscle fibe... |
OMIM:620278 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, K... |
OMIM:212065 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Short stature, Cachexia, Anorexia, Abnormality of the thyroid gland, Kyp... |
ORPHA:1969 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Fever, Portal hypertension, S... |
ORPHA:131 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Short neck, Grayish enamel, Hyperlordosis,... |
OMIM:253000 |
Megalocornea-Intellectual Disability Syndrome |
|
Short stature, Kyphosis, Hypothyroidism, Scoliosis, Hypercholesterolemia, Abnormal repetitive man... |
ORPHA:2479 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Short neck, Low ante... |
ORPHA:800 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... |
ORPHA:144 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Kyphosis, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology, G... |
ORPHA:3121 |
Primary Myelofibrosis |
|
Fever, Hepatomegaly, Anorexia, Portal hypertension, Cachexia, Splenomegaly, Low-grade fever, Hepa... |
ORPHA:824 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Hypoglycemia, Short stature, Cachexia, M... |
ORPHA:109 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Abnormal circulating creatine kinase concentration, Weakness of facial musculatu... |
OMIM:615959 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... |
ORPHA:99885 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Sacral dimple, Large for gestational age, Kyphosis, Umbilical hernia |
OMIM:618272 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma, Weight loss |
ORPHA:94080 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Anorexia, Hyperlordosis, Cachexia, Splenomeg... |
ORPHA:1328 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Cache... |
ORPHA:1933 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Incre... |
ORPHA:93314 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Highly arched eyebrow, Kyphosis, Synophrys, Hypertrichosis, Limb hypertonia, Long e... |
OMIM:617190 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Failure to thrive, S... |
ORPHA:209905 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Facial hypotonia, Aggressive behavior, Kyphosis, Scoliosis, Abnormality of muscle ... |
ORPHA:364028 |
Lymphoid Interstitial Pneumonia |
|
Fever, Hepatomegaly, Weight loss, Hypoxemia, Abnormality of connective tissue, Failure to thrive |
ORPHA:79128 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Severe short stature, Cachexia, Absence of subcutaneous fat, Corne... |
OMIM:610965 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Hypercapnia, Facial pals... |
OMIM:164310 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Low anterior hairline, Obesity, Hyperuricemia, Attention deficit hyperactivity disorder |
ORPHA:261222 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Dentinogenesis imp... |
OMIM:259440 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Dysphagia, Arthrogryposis multiplex c... |
OMIM:617143 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fever, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint morpholog... |
ORPHA:324964 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Increased connective tissue, ... |
ORPHA:258 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Disproportionate short-trunk short st... |
ORPHA:583 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity... |
OMIM:618443 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypoxemia, Fever, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... |
ORPHA:536532 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Baralle-Macken Syndrome |
|
Kyphosis, Obesity, Hirsutism |
OMIM:619255 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Umbilical hernia, Failure to thrive, Mild short stature, Foot do... |
OMIM:169400 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis |
OMIM:614898 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Macroglossia, Gene... |
ORPHA:2221 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine... |
ORPHA:628 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
ORPHA:85327 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Kyphosis, Scoliosis |
ORPHA:99014 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Fever, Liver abscess, Elevated circulating C-reactive protein conc... |
ORPHA:54251 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Diaphragmatic eventration, Spinal muscular atrophy, Flexion contracture, Increased variability in... |
OMIM:616866 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... |
ORPHA:137834 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short stature, Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Uncombable hair... |
ORPHA:3082 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis |
OMIM:614409 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Short s... |
OMIM:307030 |
Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... |
ORPHA:64 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... |
OMIM:609069 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... |
OMIM:313400 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... |
OMIM:606070 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Dysph... |
OMIM:128100 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Short stature, Abnormal dental... |
ORPHA:2916 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Inguinal hernia, Severe short stature, Short neck, Splenomegaly, Kyphosis, Hypoplas... |
OMIM:230500 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Myositis, Hyperthyroidism, Failure to thrive in infancy, Alopecia,... |
ORPHA:37042 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Patchy alopecia, Poliosis |
OMIM:141300 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Alg1-Cdg |
|
Kyphosis, Hypoalbuminemia, Decreased liver function, Scoliosis |
ORPHA:79327 |
Allergic Bronchopulmonary Aspergillosis |
|
Low-grade fever, Weight loss |
ORPHA:1164 |
Huntington Disease-Like 1 |
|
Restlessness, Weight loss |
ORPHA:157941 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis... |
ORPHA:15 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Fever, Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
Giant Cell Arteritis |
|
Fever, Alopecia, Anorexia, Weight loss, Hepatic failure, Diabetes insipidus |
ORPHA:397 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:1858 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Ragged-red mu... |
OMIM:607426 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Short stature, Ragged-red muscle fibers, Primary adrenal i... |
OMIM:530000 |
Weismann-Netter Syndrome |
|
Severe short stature, Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:3344 |
Creatine Phosphokinase, Elevated Serum |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... |
OMIM:123320 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Hypocalcemia, Cachexia, Short neck |
ORPHA:1438 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Hypoxemia, Fever, Weight loss |
ORPHA:79127 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, C... |
ORPHA:100086 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur... |
OMIM:618291 |
Marden-Walker Syndrome |
|
Inguinal hernia, Decreased muscle mass, Short neck, Postnatal growth retardation, Kyphosis, Conge... |
OMIM:248700 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Anorexia, Hypersplenism, Splenomegaly, Kyphosis, Growth delay, Cirrhosis, Delayed p... |
ORPHA:77259 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, Scoliosis, Ele... |
OMIM:162300 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Fever, Weight loss |
ORPHA:3226 |
Hypomelanosis Of Ito |
|
Kyphosis, Alopecia, Scoliosis |
OMIM:300337 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Synophrys, Hirsutism, Scoliosis |
OMIM:300861 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Attention deficit hyperactivity disorder |
OMIM:615433 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Short stature, Kyphosis, Macroglossia, Scoliosis, Dysphagia |
ORPHA:79107 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, ... |
OMIM:157640 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Hypogonadism, Spi... |
ORPHA:2983 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the ver... |
ORPHA:3098 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Abn... |
ORPHA:96169 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Failure to thrive |
OMIM:608776 |
Melas |
|
Hypoparathyroidism, Fever, Diabetes mellitus, Hypogonadotropic hypogonadism, Short stature, Ragge... |
ORPHA:550 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Short stature, Cachexia, Abnormal circulating creatine concentration, Self-mutilation |
ORPHA:52503 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:216866 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... |
ORPHA:3464 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Weight loss, Hypophosphatemia, Hypoalbuminemia, Hypocalcemia, Hypo... |
ORPHA:398063 |
3C Syndrome |
|
Inguinal hernia, Short stature, Adrenal hypoplasia, Short neck, Postnatal growth retardation, Kyp... |
ORPHA:7 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Frontal upsweep of hair, Scoliosis |
OMIM:619797 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Ab... |
ORPHA:93360 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Bruck Syndrome |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:2771 |
Tetrasomy 12P |
|
Short stature, Cachexia, Short neck, Sparse eyebrow, Sparse hair |
ORPHA:884 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Aggressive behavior, Kyphosis, Synophrys, Attention deficit hyperactivity disorder... |
ORPHA:476126 |
Emanuel Syndrome |
|
Inguinal hernia, Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis... |
OMIM:609029 |
Polyarteritis Nodosa |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Rheumatoid Arthritis |
|
Fever, Digital flexor tenosynovitis, Elevated circulating C-reactive protein concentration, Weigh... |
OMIM:180300 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
ORPHA:85450 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis |
OMIM:112350 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Portal hypertension, Hypersplenism, Hepatosplenomegaly, Weight loss, Decreased liver fu... |
ORPHA:98850 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Fever, Hepatitis, Thyroiditis, Weight loss |
ORPHA:139402 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hyperactivity, Sacral dimple, Small for gestational age, Short stature, Impulsi... |
OMIM:610443 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly of 2nd-5th fi... |
OMIM:609128 |
Nephroblastoma |
|
Fever, Neoplasm of the liver, Weight loss |
ORPHA:654 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... |
OMIM:620185 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... |
ORPHA:786 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Inguinal hernia, Severe short stature, Short stature, Short neck, Splenomegaly, Kyp... |
OMIM:309900 |
Igg4-Related Aortitis |
|
Fever, Low back pain, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Anorexia, Hypokalemia, Hypocalcemia, Nail dystrophy, Hypomagnesemia |
OMIM:175500 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia, Kyphosis, Scoliosis |
ORPHA:702 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Arthrogryposis multiplex ... |
OMIM:618186 |
Desbuquois Dysplasia 1 |
|
Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity, Growth delay, Platyspondyly, ... |
OMIM:251450 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Abnormal mesentery morphology, Abnormality of the gall... |
ORPHA:2075 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Kyphosis, Scoliosis |
ORPHA:2181 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Severe short stature, Congenital muscular torticollis, ... |
ORPHA:2215 |
Oromandibular Dystonia |
|
Torticollis, Weight loss, Dysphagia, Bruxism |
ORPHA:93958 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Dry hair, Short stature, Diastasis recti, Postnatal growth reta... |
ORPHA:576 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Low anterior hairline, Dysphagia, Intrauterine growth retardation, Limb hypertonia |
OMIM:619909 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Flexion contracture, Low-grade fever, Weight loss, Hepatosplen... |
ORPHA:85408 |
Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Short stature, Short neck, Splenomegaly, Hypoplasia of the odontoi... |
OMIM:607014 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Fatal Familial Insomnia |
|
Fever, Weight loss, Dysphagia |
OMIM:600072 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Short stature, Splenomegaly, Weight loss, Hepatosplenomegaly, Hyperbilirubinemia, U... |
OMIM:613673 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss |
ORPHA:99868 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia ... |
OMIM:253010 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Fever, Myositis, Weight loss, Dysphagia, Acrocyanosis |
ORPHA:183 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Short stature, Aggressive behav... |
OMIM:309000 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Abnormal dental enamel morphology, Kyphosis, Moderate postnatal g... |
ORPHA:1005 |
Klatskin Tumor |
|
Fever, Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Oral-pharyngeal d... |
ORPHA:273 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:615368 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Erdheim-Chester Disease |
|
Fever, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Weight loss, Xanthelasma, Polydip... |
ORPHA:35687 |
Perry Syndrome |
|
Inappropriate behavior, Disinhibition, Weight loss |
OMIM:168605 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Subcutaneous ... |
OMIM:615108 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Compulsive behaviors, Abnormal repetitive mannerisms, Hyponat... |
ORPHA:534 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Fever, Abnormal circulating protein concentration, Cyanosis, Weight loss, Hypoxemia |
ORPHA:747 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... |
OMIM:619377 |
Glucose-Galactose Malabsorption |
|
Fever, Hypercalcemia, Weight loss, Hypernatremia, Failure to thrive |
ORPHA:35710 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,... |
OMIM:603041 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Growth delay, Macroglossia, Scoliosis, Abnormal repetitive mannerisms |
ORPHA:261144 |
Mucopolysaccharidosis Type 4 |
|
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Grayish enamel, Kyph... |
ORPHA:582 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Microsporidiosis |
|
Fever, Myositis, Cholangitis, Anorexia, Cachexia, Abnormality of the spleen, Abnormality of the p... |
ORPHA:2552 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Anorexia, Weight loss |
ORPHA:2494 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
3M Syndrome |
|
Scapular winging, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, In... |
ORPHA:2616 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Disproportionate short-limb short ... |
ORPHA:2655 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Abnormality of skeletal muscle fiber size, Malignant hype... |
ORPHA:168572 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Att... |
OMIM:618050 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Congenital hypothyroidism, Contractures of the large joints, Dysphagia, Failure to thri... |
OMIM:617527 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... |
ORPHA:99228 |
Monosomy X |
|
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... |
ORPHA:99226 |
Turner Syndrome |
|
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... |
ORPHA:881 |
Osteosarcoma |
|
Fever, Weight loss |
ORPHA:668 |
Igg4-Related Retroperitoneal Fibrosis |
|
Fever, Low back pain, Anorexia, Elevated circulating C-reactive protein concentration, Elevated c... |
ORPHA:49041 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypoglycem... |
OMIM:276700 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Synophrys, Abnormal curvature of the vertebral column, Tics, Compulsive behaviors, Abn... |
OMIM:619475 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration |
OMIM:619024 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Postnatal growth retardation, Micronodular cirrhosis, Chol... |
OMIM:207800 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Highly arched eyebrow, Kyphosis, Long eyelashes, Scoliosis, Attention deficit hyper... |
OMIM:619005 |
Juvenile Dermatomyositis |
|
Fever, Calcinosis, Myositis, Alopecia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:93672 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss |
ORPHA:83469 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Subcutaneous ... |
OMIM:615109 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae |
ORPHA:2522 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Kyphosis, Low anterior hairline, Attention deficit hyperactivity disorder,... |
ORPHA:404440 |
Felty Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss, Cellulitis |
ORPHA:47612 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Compulsive behaviors... |
ORPHA:2388 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:29072 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Cyanosis, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin ... |
ORPHA:740 |
Pneumocystosis |
|
Hypoxemia, Fever, Weight loss |
ORPHA:723 |
Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Abnormality of the cervical spine, Sacral dimple, Lumbar hyperlordosis, Increased i... |
ORPHA:508533 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Weight loss, Macroglossia, Abnormali... |
ORPHA:85443 |
Trisomy 20P |
|
Inguinal hernia, Camptodactyly of finger, Highly arched eyebrow, Short neck, Thick hair, Kyphosis... |
ORPHA:261318 |
Trisomy 13 |
|
Abnormal eyelash morphology, Kyphosis, Scoliosis, Hernia, Intrauterine growth retardation |
ORPHA:3378 |
Idiopathic Bronchiectasis |
|
Fever, Cachexia |
ORPHA:60033 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Synophrys, Flexion contracture, Knee flexion contracture, Glucose intole... |
OMIM:259050 |
Acute Promyelocytic Leukemia |
|
Fever, Addictive alcohol use, Anorexia, Weight loss |
ORPHA:520 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss, Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hy... |
ORPHA:90362 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Clark-Baraitser syndrome |
|
Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis |
OMIM:609541 |
Thymoma |
|
Fever, Myositis, Neoplasm of the thyroid gland, Weight loss |
ORPHA:99867 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Anorexia, Splenomegaly, Hepatitis, Hepatosple... |
ORPHA:781 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Short neck, Hair-pulling, Polyphagia, Self-injurious behavior, ... |
OMIM:620330 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Short stature, Congenital diaphragmatic hernia, Kyphosis, Scoliosi... |
OMIM:617602 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Failure to thrive, Cyanosis, Hypoglycemia, Skeletal muscle atrophy, Splenomegaly, R... |
OMIM:252010 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Decreased muscle mass, Short stature, Short neck, Kyphosis, Co... |
OMIM:130720 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Abnormality of the hairline, Aggressive behavior, Synophrys, Polyphagia,... |
OMIM:607872 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of the cervical spine, Failure to thrive, Small for gestational age, Ankle flexion co... |
ORPHA:464311 |
Cohen Syndrome |
|
Failure to thrive in infancy, Short stature, Thick hair, Abnormal eyelash morphology, Kyphosis, L... |
ORPHA:193 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Congenital contracture, Hepatomegaly, Contractures of the larg... |
ORPHA:191 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Fine hair, Growth delay, Sparse or absent eyelashes, Sparse hair,... |
ORPHA:217346 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Brittle hair, Hypoglycemia, Cholangitis, Microve... |
OMIM:124000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Oral-pharyngeal dysphagia, Kyphosis, Postnatal growth retardation, Syn... |
OMIM:300966 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Hemivertebrae, Growth delay, Macroglossia... |
OMIM:301040 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Abnormal form of the vertebra... |
ORPHA:93941 |
Congenital Tufting Enteropathy |
|
Weight loss, Cholestatic liver disease, Failure to thrive, Steatorrhea |
ORPHA:92050 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Kyphosis, Absence of subcutan... |
OMIM:616914 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Conjugated hype... |
OMIM:617156 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the odontoid proces... |
OMIM:223800 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Fever, Weight loss |
ORPHA:411703 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona... |
OMIM:259420 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Multiple joint contractures, Small for gestational age, Anterior pituitary hypopla... |
ORPHA:464306 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Thoracic kyphoscoliosis, Inguinal hernia, Widened atrophic scar, Thoracic scoliosis, Decreased mu... |
ORPHA:1900 |
Fountain Syndrome |
|
Short stature, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifid... |
ORPHA:3219 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Inguinal hernia, Short stature, Scoliosis |
ORPHA:261190 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Myopathy, Muscular dystrophy, I... |
OMIM:602541 |
Smith-Mccort Dysplasia 1 |
|
Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Weight loss, Failure to thrive |
ORPHA:37 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Dysphagia |
OMIM:211530 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... |
OMIM:616239 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Multiple joint contractures, Short stature, Thoracolumbar scoliosis, Congenital ... |
OMIM:265000 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Short stature, Macular scar, Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Failu... |
OMIM:239000 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Weight loss, Adrena... |
ORPHA:276621 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse hair, Fail... |
OMIM:617988 |
Aicardi-Goutieres Syndrome 7 |
|
Fever, Hepatomegaly, Splenomegaly, Hypothyroidism, Increased circulating ferritin concentration, ... |
OMIM:615846 |
Postencephalitic Parkinsonism |
|
Fever, Kyphosis, Camptocormia, Dysphagia |
ORPHA:97349 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Cole-Carpenter Syndrome 2 |
|
Short stature, Postnatal growth retardation, Kyphosis, Platyspondyly, Dentinogenesis imperfecta |
OMIM:616294 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Fever, Liver abscess, Weight loss, Hypoalbuminemia |
ORPHA:67 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Small intestine carcinoid, ... |
ORPHA:100078 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Subcutaneous ... |
OMIM:158350 |
Pulmonary Alveolar Microlithiasis |
|
Fever, Hepatomegaly, Cyanosis, Abnormal circulating calcium concentration, Weight loss, Hypoxemia... |
ORPHA:60025 |
Distal Triplication 15Q |
|
Large for gestational age, Kyphosis, Flexion contracture, Scoliosis, Hernia, Intrauterine growth ... |
ORPHA:314588 |
Poland Syndrome |
|
Diabetes mellitus, Congenital diaphragmatic hernia, Short neck, Kyphosis, Absence of subcutaneous... |
ORPHA:2911 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... |
OMIM:616503 |
Micro Syndrome |
|
Short stature, Kyphosis, Scoliosis, Delayed puberty, Intrauterine growth retardation, Generalized... |
ORPHA:2510 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:93274 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Kyphosis, Abnormal form o... |
ORPHA:2461 |
Dysostosis, Stanescu Type |
|
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Macrogloss... |
ORPHA:1798 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Platyspondyly, Long eyelashes, Inappropriate laughter, Hypoca... |
OMIM:618476 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro... |
ORPHA:958 |
Liver Disease, Severe Congenital |
|
Dry hair, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypo... |
OMIM:619991 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Inguinal hernia, Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Splen... |
ORPHA:955 |
Mgat2-Cdg |
|
Abnormality of the endocrine system, Kyphosis, Hirsutism, Long eyelashes, Hypoplastic nipples, Sc... |
ORPHA:79329 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Dry hair, Short stature, Sple... |
OMIM:216400 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Short neck, Abnormal hair morphology, Ky... |
ORPHA:251014 |
Nocardiosis |
|
Fever, Liver abscess, Anorexia, Peritonitis, Thyroiditis, Weight loss, Abnormality of the adrenal... |
ORPHA:31204 |
Yao Syndrome |
|
Recurrent fever, Weight loss |
OMIM:617321 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Highly arched eyebrow, Aggressive behavior, Kyphosis, Low anterior hairline, Wooll... |
OMIM:619244 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Increased connective tissue, Hiatus hernia, Proximal amyotrophy, Atrophic scars, Muscle fiber spl... |
OMIM:606408 |
Microphthalmia, Lenz Type |
|
Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Self-injurious behavior, Scoliosis |
ORPHA:568 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma, Dysphagia |
ORPHA:97286 |
Glossopharyngeal Neuralgia |
|
Weight loss, Abnormality of the cervical spine, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Weight loss |
ORPHA:704 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Disproportiona... |
OMIM:177170 |
Postinfectious Vasculitis |
|
Fever, Viral hepatitis, Abnormal circulating protein concentration, Anorexia, Elevated circulatin... |
ORPHA:48435 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Weight loss, Agitation, Dysphagia, Hypomimic face |
ORPHA:411602 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis |
OMIM:113500 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Low ... |
ORPHA:2789 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Sacral dimple, Fair hair, Slender build, Decreased response to growth hormon... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Sacral dimple, Fair hair, Slender build, Decreased response to growth hormon... |
ORPHA:363958 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Self-inj... |
ORPHA:192 |
Harrod Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis, Intrauterine growth retardation |
ORPHA:2115 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Hypouricemia, Bicarbonaturia, Weight loss, Growth delay, Decreased circulating carn... |
ORPHA:3337 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228302 |
Infantile Krabbe Disease |
|
Cachexia, Shoulder girdle muscle weakness, Unexplained fevers, Temperature instability, Failure t... |
ORPHA:206436 |
Cole-Carpenter Syndrome |
|
Short stature, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the vertebral bodies... |
ORPHA:2050 |
African Trypanosomiasis |
|
Hepatomegaly, Alopecia, Aggressive behavior, Abnormality of the endocrine system, Splenomegaly, J... |
ORPHA:3385 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Splenomegaly, Jaundice, Kyphosis, Myopathy, Cholecystitis, Prolonged neo... |
OMIM:615512 |
Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Contractures of the large joints, Impaired oropharyngeal swallow response, Failure to t... |
ORPHA:521426 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Fever, Weight loss, Dysphagia, Pancreatitis |
ORPHA:36426 |
Spondyloenchondrodysplasia |
|
Short stature, Decreased response to growth hormone stimulation test, Kyphosis, Disproportionate ... |
ORPHA:1855 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Inguinal hernia, Aggressive behavior, Sparse eyebrow, Kyphosis, Scoliosis, Cho... |
ORPHA:464738 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Severe short stature, Small for gest... |
OMIM:133540 |
Gerstmann-Straussler Disease |
|
Weight loss, Lower limb muscle weakness, Aggressive behavior |
OMIM:137440 |
Neuroblastoma, Susceptibility To, 1 |
|
Fever, Failure to thrive, Weight loss |
OMIM:256700 |
Mend Syndrome |
|
Hyperactivity, Sacral dimple, Short stature, Aggressive behavior, Kyphosis, Elevated 8-dehydrocho... |
ORPHA:401973 |
Monosomy 9Q22.3 |
|
Hyperactivity, Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Abnormality of ... |
ORPHA:77301 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Congenital diaphragmatic hernia, Highly arched eyebrow, Kyphosis, Abnormality of t... |
ORPHA:280 |
Brucellosis |
|
Fever, Hepatomegaly, Liver abscess, Small for gestational age, Anorexia, Elevated circulating C-r... |
ORPHA:1304 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Inguinal hernia, Sacral dimple, Small for gestational age, Decreased response to growth hormone s... |
ORPHA:268261 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Small for gestational a... |
OMIM:194190 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Seckel Syndrome |
|
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Scoliosis, Intraut... |
ORPHA:808 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Noonan Syndrome 14 |
|
Curly hair, Scapular winging, Short stature, Short neck, Sparse eyebrow, Kyphosis, Low posterior ... |
OMIM:619745 |
Marshall-Smith Syndrome |
|
Omphalocele, Thoracic scoliosis, Brittle hair, Short stature, Kyphoscoliosis, Highly arched eyebr... |
OMIM:602535 |
Cowden Syndrome |
|
Short stature, Follicular thyroid carcinoma, Abnormality of the thyroid gland, Kyphosis, Macroglo... |
ORPHA:201 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Short stature, Scoliosis |
ORPHA:2058 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl... |
OMIM:618019 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Sparse scalp hair, Anorexia, Kyphosis, Scoliosis, He... |
ORPHA:394 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:75566 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Congenital diaphragma... |
ORPHA:818 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly |
ORPHA:88628 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Kyphosis, Synophrys, Flexion contracture, Abnormal form of the ve... |
ORPHA:3042 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Highly arched eyebrow, Supernumerary nipple, Kyphosis, Scoliosis |
OMIM:619951 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Agitation, Deposits immunoreactive to beta-amyloid protein, Disinhibition |
ORPHA:1020 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Scoliosis, Dysphagia |
ORPHA:261250 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Lower limb muscle weakness, Scoliosis, Skeletal muscle atrophy |
ORPHA:88644 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:613154 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Growth delay, Hepatic fibr... |
ORPHA:2072 |
Dermatomyositis |
|
Fever, Abnormal hair quantity, Weight loss, Inflammatory myopathy, Cellulitis, Acrocyanosis, Chon... |
ORPHA:221 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Dysphagia, Polydipsia, Pancrea... |
ORPHA:537 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Impulsivity, Aggressive behavior, Kyphoscoliosis, Kyphosis, Pineal cyst, Left ventricular noncomp... |
OMIM:300967 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Fever, Weight loss |
ORPHA:98849 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Knee flexion contracture, Calf muscle hypertr... |
OMIM:618733 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Kyphosis, Inguinal hernia, Scoliosis |
OMIM:616449 |
Fanconi Anemia |
|
Short stature, Weight loss, Growth delay, Abnormality of the liver, Hypogonadism, Scoliosis, Umbi... |
ORPHA:84 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Skeletal muscle atrophy, Short stature, Cachexia, Short neck, Rhabdomyosa... |
ORPHA:647 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Lethal short-limbed short stature |
ORPHA:1860 |
Trisomy 18 |
|
Omphalocele, Short stature, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, G... |
ORPHA:3380 |
Spondyloperipheral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... |
OMIM:271700 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate short stature,... |
OMIM:616482 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Unexplained fevers, Weight loss |
ORPHA:91139 |
Rat-Bite Fever |
|
Back pain, Fever, Tendonitis, Weight loss, Pancreatitis |
ORPHA:31205 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Weight loss |
ORPHA:188 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis |
OMIM:617821 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Broad eyebrow, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age,... |
ORPHA:457359 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss |
ORPHA:729 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Growth delay, Scoliosis |
OMIM:619557 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... |
ORPHA:29073 |
Cono-Spondylar Dysplasia |
|
Short nail, Short neck, Kyphosis, Scoliosis, Failure to thrive |
ORPHA:420794 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Fever, Weight loss |
ORPHA:52417 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Tongue thrusting, Scoliosis, Bruxism, Abnormal repetitive mannerisms |
OMIM:613454 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Short stature, Abnormality of the endocrine system, Precocious puberty, K... |
ORPHA:636 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Anorexia, Weight loss, Long eyelashes |
ORPHA:79430 |
Sarcoidosis, Susceptibility To, 1 |
|
Fever, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Hypoxemia |
OMIM:181000 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Anorexia, Elevated circulating C-reactive ... |
ORPHA:50918 |
Granulomatosis With Polyangiitis |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss, Abnormality of the hyp... |
ORPHA:900 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Lower limb amyotrophy, L... |
OMIM:300257 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Cachexia, Kyphosis, Scoliosis, Attention deficit hypera... |
ORPHA:558 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Dentinogenesis imperfecta |
OMIM:166220 |
Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, V... |
OMIM:610915 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Fever, Multiple joint contractures, Hypogonadotropic hypogonadism,... |
ORPHA:79318 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Sacral dimple, Short stature, Short neck, Kyphosis, Long eyelashes, Scoliosis, Campt... |
OMIM:616894 |
Riddle Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Short stature, Recurrent fever, Weight loss |
ORPHA:420741 |
Zttk Syndrome |
|
Absent gallbladder, Curly hair, Short stature, Sparse eyebrow, Kyphosis, Flexion contracture, Hem... |
OMIM:617140 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Absent eyebrow, Inguinal hernia, Abnormality of temperature regulation, Severe short... |
ORPHA:2273 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Dry hair, Mild postnatal gr... |
ORPHA:90324 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fever, Myositis, Retroperitoneal fibrosis, Thyroiditis, Weight loss, Abnormality of the extraocul... |
ORPHA:79078 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Weight loss, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Osteogenesis Imperfecta |
|
Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Cervical kyphosis,... |
ORPHA:666 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Failure to thrive, Dysphagia |
ORPHA:1018 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Short stature, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Synophrys, Campto... |
ORPHA:3063 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Abnormal form of the vertebral bodies, Verteb... |
ORPHA:904 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:963 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Kyphoscoliosis, Short neck, Rhizome... |
OMIM:143095 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Kyphosis, Abdominal situs inversus, Camptodactyly |
OMIM:619123 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Behçet Disease |
|
Fever, Myositis, Anorexia, Splenomegaly, Weight loss, Pancreatitis |
ORPHA:117 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Dysphagia, Knee flexion contracture |
OMIM:619708 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, D... |
ORPHA:649 |
Reactive Arthritis |
|
Fever, Weight loss, Dystrophic fingernails, Enthesitis |
ORPHA:29207 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Supernumerary nipple, Short neck, Kyphosis, Elbow flexion contracture, Knee flex... |
OMIM:619194 |
Autosomal Recessive Robinow Syndrome |
|
Inguinal hernia, Sacral dimple, Alopecia, Camptodactyly of finger, Short neck, Kyphosis, Vertebra... |
ORPHA:1507 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anorexia, Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatitis, Weight ... |
OMIM:619381 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Cachexia, Kyphosis, Sp... |
ORPHA:828 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Severe short stature, Femoral hernia, Abnormal dental enamel morphology, Facial ... |
ORPHA:2658 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Scoliosis |
ORPHA:140 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Inguinal hernia, Sacral dimple, Short stature, Dry hair, Congenital diaphragma... |
OMIM:135900 |
Proteus Syndrome |
|
Thymus hyperplasia, Decreased muscle mass, Abnormal dental enamel morphology, Cachexia, Neoplasm ... |
ORPHA:744 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente... |
ORPHA:449395 |
Pyomyositis |
|
Fever, Myositis, Weight loss |
ORPHA:764 |
Castleman Disease |
|
Jaundice, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:160 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Delayed puberty |
OMIM:619718 |
Coffin-Lowry Syndrome |
|
Inguinal hernia, Short stature, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Coarse hair, Sc... |
OMIM:303600 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Steatorrhea |
ORPHA:3217 |
Mend Syndrome |
|
Hyperactivity, Sacral dimple, Short stature, Kyphosis, Failure to thrive |
OMIM:300960 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Inguinal hernia, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow |
OMIM:609944 |
Aspartylglucosaminuria |
|
Hepatomegaly, Short stature, Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Her... |
OMIM:208400 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... |
OMIM:304150 |
Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
Granulomatosis With Polyangiitis |
|
Fever, Weight loss |
OMIM:608710 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Short stature, Hypoalbuminemia, Subcutaneous lipoma |
ORPHA:79076 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Alopecia, Anorexia, Flexion contracture, Weight loss, N... |
ORPHA:99921 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Growth delay, Prominent coccy... |
OMIM:249420 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Fever, Elevated circulating C-reactive protein concentration, Recurrent fever, Weight loss |
OMIM:301074 |
Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Sacrococcygeal teratoma, Hypercalcemia, Ankle flexion contractu... |
ORPHA:821 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis |
OMIM:106300 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Temperature instability, Scoliosis, Dysphagia |
OMIM:619482 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Fever, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating crea... |
ORPHA:91500 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Hyperuricemia, Scoliosis, Thick eyebrow |
ORPHA:2769 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Lymphedema-Distichiasis Syndrome |
|
Yellow nails, Kyphosis, Distichiasis, Cellulitis |
OMIM:153400 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Scapular winging, Short stature, Short nail, Hypoplasia of the musculature, Kyph... |
OMIM:278250 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... |
OMIM:203500 |
Cleidocranial Dysplasia 1 |
|
Short stature, Kyphosis, Moderately short stature, Spondylolysis, Scoliosis, Enamel hypoplasia, S... |
OMIM:119600 |
Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Ve... |
OMIM:259770 |
17Q11 Microdeletion Syndrome |
|
Short stature, Rhabdomyosarcoma, Precocious puberty, Kyphosis, Glomus jugular tumor, Elevated cir... |
ORPHA:97685 |
Cdags Syndrome |
|
Sparse eyebrow, Kyphosis, Sparse eyelashes, Sparse scalp hair |
OMIM:603116 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Large for gestational age, Sparse eyebrow, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:617011 |
Familial Thrombocytosis |
|
Splenomegaly, Weight loss |
ORPHA:71493 |
Branchiooculofacial Syndrome |
|
Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Postnatal growth retarda... |
OMIM:113620 |
Ramon Syndrome |
|
Short stature, Kyphosis, Scoliosis, Decreased body weight, Hypertrichosis |
OMIM:266270 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
Viss Syndrome |
|
Sparse scalp hair, Inguinal hernia, Alopecia, Short stature, Hypothyroidism, Kyphosis, Hirsutism,... |
OMIM:619472 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyelashes, Kyphosis, Absent eyebrow, Abnormal dental enamel morphology |
ORPHA:85199 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Goodpasture Syndrome |
|
Fever, Cyanosis, Increased blood urea nitrogen, Weight loss |
OMIM:233450 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness |
ORPHA:171629 |
Cerebrocostomandibular Syndrome |
|
Kyphosis, Short stature, Intrauterine growth retardation |
ORPHA:1393 |
Tropical Endomyocardial Fibrosis |
|
Fever, Hepatomegaly, Cachexia, Splenomegaly, Myocardial calcification, Hypoalbuminemia |
ORPHA:75565 |
Singleton-Merten Syndrome 1 |
|
Short stature, Scoliosis, Decreased body weight, Muscle fiber atrophy, High anterior hairline, Te... |
OMIM:182250 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Absent nipple, Small for gestational age, Anterior concavity of thoracic verte... |
OMIM:216340 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionate short-trunk ... |
OMIM:300106 |