| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Distal muscle wea... |
OMIM:600175 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie... |
OMIM:300718 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Poor head control, Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrop... |
OMIM:618323 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Neck flexor weakness, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle ... |
OMIM:620386 |
| Bethlem Myopathy 2 |
|
Scapular winging, Proximal muscle weakness, Kyphosis, Flexion contracture, Myopathy, Scoliosis, I... |
OMIM:616471 |
| Inclusion Body Myositis |
|
Distal muscle weakness, Proximal muscle weakness, Inflammatory myopathy, Dysphagia, Rimmed vacuoles |
OMIM:147421 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Muscle weakness, Dysphagia |
ORPHA:85162 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb ... |
OMIM:617087 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Gowers sign, Respirat... |
OMIM:610687 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal muscle weakness, Distal amyotrophy, Scoliosis, Type... |
OMIM:619042 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Sensorineural hearing impairme... |
ORPHA:18 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Osteomalacia, Parathormone-independent increased renal tubular calcium reabsorpt... |
ORPHA:405 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:620286 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Spinal rigidity, Centrally nucleat... |
OMIM:608423 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Scoliosi... |
OMIM:613204 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Gowers sign, Flexion contracture, Faci... |
OMIM:609285 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should... |
OMIM:606612 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... |
OMIM:605637 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Bulbar palsy, Spinal muscular atrophy, Hyperlordosis, Kyphosis... |
OMIM:615290 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Centrally nucleated skelet... |
OMIM:255200 |
| Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, De... |
ORPHA:428 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... |
OMIM:601846 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Proximal m... |
OMIM:618484 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con... |
ORPHA:75840 |
| Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Proximal muscle weakness, Proximal amyotro... |
OMIM:617404 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Kyphoscoliosis, Ankle flex... |
OMIM:616668 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, Hyperca... |
OMIM:613388 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... |
OMIM:618138 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalm... |
OMIM:617143 |
| Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Anemia |
OMIM:238700 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss... |
OMIM:300009 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Overweight, Z-... |
OMIM:619178 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... |
OMIM:117000 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Sensorineural hearing impairment, Enur... |
ORPHA:199343 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Distal muscle weakness, Scoliosis, Skeletal muscle atrophy |
ORPHA:101078 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Proximal muscle weakness, Quadriceps muscle weakness, G... |
ORPHA:206546 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Aminoaciduria, Glycosu... |
OMIM:615605 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... |
OMIM:608358 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Upper limb muscle weakness, Dis... |
OMIM:605588 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contra... |
OMIM:607855 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Abnormality of the kidney |
ORPHA:284227 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... |
OMIM:134600 |
| Dent Disease |
|
Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri... |
ORPHA:1652 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive, Attention deficit hyperactivity disorder, Facial myokymia |
OMIM:620007 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Bulbar palsy, Facial palsy, Kyphoscoliosis, Aggressive behavior, Generalized amyotrophy, Scoliosi... |
OMIM:614707 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Small for gestational age |
ORPHA:85288 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Progressive neurologic deterioration, Tremor, Hyperinsulinemia, Renal Fanconi syndro... |
ORPHA:263455 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt... |
OMIM:617114 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
| Wilson Disease |
|
Tremor, Osteoarthritis, Hand tremor, Aminoaciduria, Limb dystonia, Hemolytic anemia, Osteomalacia... |
OMIM:277900 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy... |
ORPHA:69076 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Athetosis, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyp... |
OMIM:618857 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Aminoaciduria, Renal Fa... |
ORPHA:436271 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Respirator... |
OMIM:254090 |
| Idiopathic Hypercalciuria |
|
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... |
ORPHA:2197 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia |
OMIM:609384 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Hypercalci... |
ORPHA:2088 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Irritability, EEG abnor... |
OMIM:612126 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Axial muscle weakness, Scoliosis, Arthrogryposis multi... |
ORPHA:178148 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Recurrent fractures, Sensorineural hearing impairment, Rickets, Stage 5 chroni... |
OMIM:268315 |
| Typical Nemaline Myopathy |
|
Neck flexor weakness, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-gi... |
ORPHA:171436 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting |
ORPHA:564178 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Rickets, Nephrocalcinosis, Amino... |
OMIM:616026 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Hypophosphatemic rickets,... |
OMIM:618913 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Kyphosis, Muscle weakness, Scoliosis |
ORPHA:99014 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Sc... |
ORPHA:2905 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... |
ORPHA:98855 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness |
OMIM:607831 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Ric... |
OMIM:227810 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... |
ORPHA:98863 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Nephr... |
ORPHA:90041 |
| Cdkl5-Deficiency Disorder |
|
Poor head control, Kyphosis, Inappropriate laughter, Scoliosis, Bruxism, Stereotypical hand wringing |
ORPHA:505652 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Irritability, Glycosuria, Postprandial hyperglycemia |
ORPHA:2089 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Central Core Disease |
|
Multiple joint contractures, Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Op... |
ORPHA:597 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Spinal rigidity, Respirator... |
ORPHA:352447 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Distal muscle weakness, Kyphosis, Ophthalmoplegia, Obesity, Scoliosis, Foot dorsiflexor weakness |
OMIM:618124 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
| Hypomagnesemia 2, Renal |
|
Renal magnesium wasting, Renal insufficiency, Hypocalciuria, Chondrocalcinosis |
OMIM:154020 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98853 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617072 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Sensorineural hearing impairment, Optic atrophy, Renal tubular dy... |
OMIM:220110 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Achilles tendon contracture,... |
OMIM:607155 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Confusion, Hematuria, Microangiopathic hemolyt... |
ORPHA:54057 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Irrit... |
ORPHA:848 |
| Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ... |
ORPHA:3337 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... |
OMIM:619040 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Scoliosis, Bruxism |
OMIM:300434 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Aminoaciduria, Elevated urinary formiminoglutamic acid le... |
OMIM:229100 |
| Sandhoff Disease |
|
Kyphosis, Failure to thrive, Muscle weakness |
ORPHA:796 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... |
ORPHA:97362 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... |
ORPHA:66624 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
| Glutathione Synthetase Deficiency |
|
Intention tremor, Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia |
OMIM:266130 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Distal muscle weakness, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic han... |
OMIM:619574 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... |
ORPHA:1145 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Low-set ears, Glycosuria, N... |
OMIM:613404 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Reticulocytosis, Renal insufficiency, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis |
ORPHA:2598 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weaknes... |
OMIM:211530 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Sensorineural hearin... |
ORPHA:52368 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Kyphosis, Progressive muscle... |
OMIM:248800 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Facial palsy, Spinal rigidi... |
OMIM:615084 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Nephrocalc... |
OMIM:611590 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Generalized aminoaciduria, Rickets of the lower limbs |
ORPHA:882 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Failure to thrive, Flexion contracture, Myopathy |
OMIM:618237 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia, Weight loss |
ORPHA:178029 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal f... |
ORPHA:100924 |
| Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Chondrocalcinosis, Hypocalciuria, Poly... |
OMIM:263800 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Hypochromic microcyti... |
ORPHA:3240 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Small for gestational age, Kyphosis, Repetitive compulsive behavior, Congenital co... |
ORPHA:352490 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, ... |
OMIM:611890 |
| Myasthenia Gravis |
|
Hemolytic anemia, Pure red cell aplasia, Dysphagia, Rheumatoid arthritis, Glycosuria, Hearing imp... |
ORPHA:589 |
| Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Aminoaciduria, Reticulocytosis |
ORPHA:33574 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Gl... |
ORPHA:411629 |
| Hypermanganesemia With Dystonia 1 |
|
Tremor, Polycythemia, Dystonia |
OMIM:613280 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level... |
OMIM:606812 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... |
ORPHA:47159 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Increased susceptib... |
OMIM:612286 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Optic disc pallor, Recurrent fractures, Facial p... |
OMIM:611490 |
| Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Abnormality of the peripheral nervous system, Leukocytosis, Atro... |
ORPHA:542643 |
| Cataract 47 |
|
Glycosuria |
OMIM:612018 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Upper limb hypertonia |
ORPHA:319199 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... |
OMIM:616470 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... |
ORPHA:846 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Myopathy, Scoliosis |
OMIM:618234 |
| Galactosemia Iii |
|
Splenomegaly, Aminoaciduria, Galactosuria, Sensorineural hearing impairment |
OMIM:230350 |
| Cystinosis, Nephropathic |
|
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syn... |
OMIM:219800 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Hyperlordosis, Kyphosis, Scoliosis, Slender build |
OMIM:300831 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Renal tubular dysfunction, Irritability, Glucose intolerance, Gl... |
OMIM:616539 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy |
ORPHA:1875 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Self-injurious behavior, Skin-picking, Aggressive behavior |
OMIM:618512 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... |
ORPHA:447 |
| Insulin-Resistance Syndrome Type B |
|
Proteinuria, Osteoarthritis, Fasting hyperinsulinemia, Insulin resistance, Insulin-resistant diab... |
ORPHA:2298 |
| Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger |
ORPHA:1325 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... |
OMIM:613845 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Osteoporosis |
OMIM:204730 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... |
OMIM:612287 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Chronic ... |
OMIM:300554 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Aminoaciduria, Recurrent fractures |
ORPHA:417 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Small for gestational age, Decreased body weight |
OMIM:618392 |
| Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Glycosuria |
OMIM:606824 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... |
OMIM:620351 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... |
ORPHA:231222 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Anorexia, Craniosynostosis, Hypercalciuria, Increased susceptibilit... |
OMIM:241500 |
| Cystinosis |
|
Myopathy, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms, Muscle weakness |
ORPHA:213 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Generalized muscle weakness, Weight loss, Addicti... |
ORPHA:399 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:616756 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cort... |
OMIM:231680 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Macroglossia, Scoliosis, Dysphagia, Achalasia |
ORPHA:79107 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia, Limb hypertonia |
ORPHA:500180 |
| Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Co... |
OMIM:300555 |
| Cranioectodermal Dysplasia 1 |
|
Joint laxity, Inguinal hernia, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney... |
OMIM:218330 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Rickets, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
| Dermotrichic Syndrome |
|
Aganglionic megacolon, EEG abnormality, Aminoaciduria, Macrotia, Anemia |
ORPHA:99688 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Sialidosis Type 2 |
|
Kyphosis, Flexion contracture, Muscle weakness, Skeletal muscle atrophy |
ORPHA:87876 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... |
ORPHA:2020 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... |
ORPHA:73224 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Elevated circulating creatinine concent... |
ORPHA:411634 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Kyphosis, Flexion contracture, Obesity, Scoliosis, Ski... |
OMIM:615547 |
| Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Dysphagia, Agitation, Scoliosis, Bruxism, Abnormal repetitive mannerisms |
OMIM:617435 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, EEG with generalized slow activity, Orthostatic hypotension, ... |
ORPHA:99027 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Small for gestational age, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:615834 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, Neur... |
ORPHA:206443 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Renal phosphate wasting, Rickets, Osteomalacia |
OMIM:193100 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Confusion, Tremor, Hemolytic-uremic syndrome, Schistocytosis, Eleva... |
OMIM:274150 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Self-injurious behavior, Scoliosis |
OMIM:617768 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Obesity, Scoliosis |
ORPHA:276630 |
| Seckel Syndrome 10 |
|
Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Insulin resistance, Gluco... |
OMIM:617253 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylgluta... |
OMIM:604273 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Irri... |
OMIM:616881 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Sensorineural ... |
OMIM:249270 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis, Chondrocalc... |
ORPHA:99879 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenomegaly, Red urin... |
OMIM:618892 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly |
OMIM:313420 |
| Mcdonough Syndrome |
|
Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis |
ORPHA:2471 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney disease, Renal a... |
ORPHA:84081 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis |
OMIM:301900 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... |
ORPHA:3077 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression, Anemia |
OMIM:184850 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Microcytic anemia, Sensorineural hearing impairment, Methylmalonic aciduria, Irritability, Atheto... |
OMIM:612073 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypercalciuria, Nephrocalcinosis, Bilateral sensorineural hearing impairment, Distal ren... |
OMIM:602722 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Chorioretinal scar, Anorexia, Elevated circulating creatinine con... |
ORPHA:91500 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Dysph... |
OMIM:128100 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Irritability, Aminoaciduria, Facial diplegia, Hearing impairment |
OMIM:609560 |
| Lead Poisoning |
|
Anorexia, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Chronic kidney disease, Abnormal... |
ORPHA:330015 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Scoliosis, Abnormality of the cervical s... |
ORPHA:48431 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Tremo... |
ORPHA:713 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Muscle weakness, Scoliosis |
ORPHA:85317 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypospadias, Craniosynostosis, Hypercalciuria, Low-set ears, Micropenis |
OMIM:614732 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis |
OMIM:614409 |
| Stimmler Syndrome |
|
Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology |
ORPHA:3199 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:79238 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit |
ORPHA:79126 |
| Von Hippel-Lindau Syndrome |
|
Sensorineural hearing impairment, Renal cell carcinoma, Multiple renal cysts, Polycythemia, Tinnitus |
OMIM:193300 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypercalc... |
OMIM:241530 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Distal muscle weakness, Facial palsy, Short neck, Kyphosis, Achilles tendon cont... |
OMIM:301041 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Bruxism, Stereotypical hand wringing |
OMIM:312750 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Torticollis, Inguinal hernia, Polycythemia, Maternal diabetes, Protrud... |
OMIM:300855 |
| Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Elevated circulating creat... |
ORPHA:85450 |
| Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Tremor, Splenomegaly, Increased urinary O-linke... |
ORPHA:812 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Foot joint contracture, Sc... |
ORPHA:90321 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Scoliosis |
ORPHA:2429 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Vesicoureteral reflux, Nephropathy, Poster... |
ORPHA:116 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Flynn-Aird Syndrome |
|
Kyphosis, Cachexia, Scoliosis, Skeletal muscle atrophy |
ORPHA:2047 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Urinary incontinence, Optic nerve hypoplasia,... |
ORPHA:101085 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuria, Diabetes mellitus, Thrombocytope... |
ORPHA:699 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Hyperactivity, Aggressive behavior, Kyphosis, Macroglossia, Abdomin... |
OMIM:300354 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Distal muscle weakness, Facial hypotonia, Aggressive behavior, Kyphosis, Scoliosis, Abnormality o... |
ORPHA:364028 |
| Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
| Wieacker-Wolff Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... |
OMIM:314580 |
| Atypical Rett Syndrome |
|
Total ophthalmoplegia, Restrictive behavior, Kyphosis, Tongue thrusting, Agitation, Inappropriate... |
ORPHA:3095 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Polydipsia, Muscle weakness |
ORPHA:251274 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Lower limb hypertonia, Upper limb hypertonia |
OMIM:614898 |
| Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Osteomalacia, Nephrolithiasis, Hypercalciuria, Reduced bone mineral density, H... |
ORPHA:157215 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
| Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive |
OMIM:234250 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Compulsive behaviors, Scoliosis |
OMIM:615761 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
| Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Kyphosis, Ophthalmoplegia, Distal arthrogryposis, Firm muscles, Scoliosis,... |
OMIM:108145 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Reduced erythrocyte 2,3-diphos... |
OMIM:232800 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Inguinal hernia, Recurrent fractures, Shoulder fl... |
OMIM:193700 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Irritability, Aminoaciduria, Dystonia |
OMIM:250620 |
| Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Hypospadias, Microcytic anemia, Flexion contracture, Aplasia/H... |
ORPHA:98791 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Resting tremor, Optic disc pallor, Short attention span, Abnormal auditory evoked pot... |
ORPHA:909 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... |
ORPHA:2635 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia, Muscle weakness |
ORPHA:403 |
| Galactosemia I |
|
Hemolytic anemia, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, Albuminuria |
OMIM:230400 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Polycythemia, Action tremor, Dystonia |
ORPHA:309854 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b... |
OMIM:300908 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Joint hypermobility, Thromb... |
OMIM:617052 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia |
OMIM:603585 |
| Von Hippel-Lindau Disease |
|
Papilledema, Elevated urinary catecholamine level, Renal cell carcinoma, Multiple renal cysts, Po... |
ORPHA:892 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis |
OMIM:609541 |
| Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Agitation, Truncal obesity, Skeletal muscle atrophy |
OMIM:219080 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Anemia, Aminoaciduria, Neutropenia, Umbilical hernia, Thrombocytopenia |
OMIM:614520 |
| Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Polyuria, Recurrent fractures, Splenomegaly, Hypercalciuria, Aminoaciduria, Po... |
OMIM:239200 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Sensorineural hearing impairment, Enuresis, Hypocalci... |
OMIM:612780 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Renal insufficiency, Proteinuria, Abnormal ... |
OMIM:216400 |
| Whipple Disease |
|
Myositis, Cachexia, Anorexia, Polydipsia, Muscle weakness |
ORPHA:3452 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Irritability, Joint c... |
OMIM:617864 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Abnormality of the musculature of the lower limbs, Obesity, Scoliosis |
ORPHA:464282 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia, Anorexia, Kyphosis, Scoliosis |
ORPHA:1969 |
| Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short neck |
OMIM:616455 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Cupped ear, Persistence of hemoglobin F, Self-injurious behavior, Low-set ears, Overfolded helix,... |
OMIM:617101 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Anorexia, Lacticaciduria, Aminoaciduria |
OMIM:619386 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertrophy, Scoliosis, C... |
OMIM:300280 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Urinary incontinence, Narcolepsy, Sensorineural hearing impairment, Optic atrophy... |
ORPHA:314404 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent urinary tract infections, Osteomyelitis, Glomerulonephritis, He... |
ORPHA:2968 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacolon, Abnormal hemoglob... |
ORPHA:847 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Renal insufficiency, Proteinuria, Abnormal pinna morphology,... |
OMIM:133540 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Irritability, Hyposthenuria, Hypernatriuria |
OMIM:300539 |
| Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Renal neoplasm, Increased bone mineral density, Diabetes mellitus, Lipoat... |
ORPHA:79474 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Hereditary Orotic Aciduria |
|
Low-set, posteriorly rotated ears, Orotic acid crystalluria, Splenomegaly, Abnormality of the ure... |
ORPHA:30 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bone... |
ORPHA:562 |
| Gracile Syndrome |
|
Aminoaciduria |
OMIM:603358 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia, Decreased urinary potassium |
OMIM:611489 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
| Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
| Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy, Polydipsia, Failure to thrive |
ORPHA:320 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Progressive neurologic deterioration |
OMIM:612075 |
| Becker Nevus Syndrome |
|
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
| Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
| Infantile Krabbe Disease |
|
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... |
ORPHA:206436 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Renal phosphate wasting, Renal ... |
OMIM:307800 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating creatini... |
OMIM:235400 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the... |
OMIM:130060 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... |
ORPHA:289176 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Kyphosis, Flexion contracture, A... |
ORPHA:500055 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Sensorineural hearing impairment, Optic atrophy, Depression, Dementia, Type II diabet... |
OMIM:604121 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Dystonia, Tremor, Optic atrophy, Hepatospleno... |
ORPHA:845 |
| Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Failure to thrive, Foot dorsiflexor weakness |
OMIM:169400 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia |
ORPHA:664 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, ... |
ORPHA:89936 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| 15Q24 Microdeletion Syndrome |
|
Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Obesity, Scoliosis, Failure... |
ORPHA:94065 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Nephrocalcinosis, Irre... |
OMIM:260400 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Hypoglycemia, Renal salt wasting |
OMIM:201910 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Hyperphosphaturia, Hypercalciuria, Knee flexion contracture, Nephroc... |
OMIM:156400 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Failure to thrive |
OMIM:125800 |
| Crisponi Syndrome |
|
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis |
ORPHA:1545 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive |
OMIM:304800 |
| 4Q21 Microdeletion Syndrome |
|
Short neck, Kyphosis, Self-injurious behavior, Scoliosis, Abnormal repetitive mannerisms |
ORPHA:238750 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Low-set ears, Renal tubular atrophy, Red... |
OMIM:208085 |
| Marchiafava-Bignami Disease |
|
Facial palsy, Aggressive behavior, Ophthalmoplegia, Addictive alcohol use, Limb hypertonia |
ORPHA:221074 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Aggressive behavior, Kyphosis, Dysphagia, Self-injurious behavior, Compulsive b... |
OMIM:617061 |
| Hypokalemic Tubulopathy And Deafness |
|
Sensorineural hearing impairment, Renal salt wasting |
OMIM:619406 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Ureteral stenosis, Hydroureter, Osteoporosis, Hypercalciuria, Renal cyst, Multifocal ... |
OMIM:615398 |
| Bruck Syndrome |
|
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis |
ORPHA:2771 |
| Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... |
OMIM:609128 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... |
OMIM:229600 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Kyphosis, Ophthalmoparesis, Scoliosis, Lower limb muscle weakness |
ORPHA:88644 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Urinary incontinence, Progressive neurologic dete... |
ORPHA:206448 |
| Lysinuric Protein Intolerance |
|
Recurrent fractures, Splenomegaly, Osteoporosis, Stage 5 chronic kidney disease, Anemia, Leukopen... |
OMIM:222700 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Reticulocytopenia, Hypercalciuria... |
OMIM:557000 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Abnormal o... |
ORPHA:79255 |
| Addison Disease |
|
Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Anorexia, Renal salt wast... |
ORPHA:85138 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Abnormal repetitive mannerisms, Scoliosis |
ORPHA:261144 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
| Alpha-Mannosidosis |
|
Macroglossia, Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia... |
ORPHA:2311 |
| Baralle-Macken Syndrome |
|
Kyphosis, Obesity |
OMIM:619255 |
| Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Kyphosis, Progressive ... |
OMIM:615512 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:354 |
| Pediatric-Onset Graves Disease |
|
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hypochromic... |
OMIM:616084 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, EEG abnormality, Aminoaciduria, Thrombocytopenia, Hearing impairment |
OMIM:614946 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercal... |
OMIM:241200 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hemoglobinuri... |
OMIM:194380 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis |
ORPHA:1883 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... |
ORPHA:93314 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Limb hypertonia, Dysphagia |
OMIM:619909 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Aminoaciduria, Methylmalonic aciduria, Sensorineural hearing... |
ORPHA:1933 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Muscle weakness |
ORPHA:231580 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Renal p... |
ORPHA:352540 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Obesity, Hyperlordosis |
ORPHA:3085 |
| Oligomeganephronia |
|
Polydipsia, Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:2260 |
| Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Urinary incontinence, Progressive psychomo... |
OMIM:268800 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Short neck, Kyphosis, Obesity, Flexion contracture of toe |
ORPHA:3409 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Optic disc pallor, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis,... |
ORPHA:416 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment, Depression |
OMIM:620114 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... |
OMIM:617301 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia |
ORPHA:223 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... |
ORPHA:2916 |
| Niemann-Pick Disease Type C |
|
Limb dystonia, Axial dystonia, Dystonia, Bone-marrow foam cells, Aggressive behavior, Tremor, Spl... |
ORPHA:646 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Hydronephrosis, Hearing impairment |
OMIM:620327 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia |
OMIM:612561 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercal... |
OMIM:601678 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Attention deficit hyperactivity disorder |
OMIM:615433 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Obesity |
OMIM:615994 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Short neck, Kyphosis, Obesity, Self-injurious behavior, Scoliosis, Arthrogryposis ... |
ORPHA:254346 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
| Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron deficiency anemia, Tub... |
ORPHA:358 |
| Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Failure to thrive |
ORPHA:583 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
| Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb... |
OMIM:219090 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:2617 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Obesity, Attention deficit hyperactivity disorder |
ORPHA:261222 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Renal insufficiency, Salt craving, Orthostatic hypotension, Hypoglycemia, Anor... |
ORPHA:95409 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias |
OMIM:250790 |
| D-Glyceric Aciduria |
|
Hypoglycemia, Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Hypsarr... |
OMIM:220120 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Camptodactyly of finger, Cachexia, Aggressive behavior, Short neck, Kyphosis, Obes... |
ORPHA:85293 |
| Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis |
ORPHA:137834 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Large for gestational age |
OMIM:618272 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur... |
ORPHA:93360 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Orthostatic hypotension, Renal salt wasting |
OMIM:610600 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Clark-Baraitser syndrome |
|
Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Oligosacchariduria, Nephrocalcinosis, Protruding ear, Aminoaciduria, Compulsive behaviors, Abnorm... |
ORPHA:534 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentrat... |
ORPHA:90038 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Obesity, Scoliosis, Short neck |
ORPHA:3191 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Posteriorly rotated ears, Sensorineural hearing impairment, Reduced ... |
OMIM:301040 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic ... |
ORPHA:628 |
| Lysosomal Acid Lipase Deficiency |
|
Psychomotor deterioration, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Vacuolated ... |
ORPHA:275761 |
| Fucosidosis |
|
Kyphosis, Decreased muscle mass, Failure to thrive, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy |
ORPHA:320406 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
| Scorpion Envenomation |
|
Restlessness, Ketonuria, Tremor, Glycosuria, Hyperglycemia, Acute kidney injury |
ORPHA:466677 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia, Confusion |
ORPHA:464453 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Renal agenesis, Pure red cell aplasia, Erythroid hypoplasia,... |
ORPHA:124 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheu... |
ORPHA:99867 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney disease, Hematuria, Renal corticomed... |
OMIM:243910 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Postencephalitic Parkinsonism |
|
Kyphosis, Generalized muscle weakness, Camptocormia, Dysphagia |
ORPHA:97349 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis |
OMIM:619797 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Renal phosphate wasting, Rickets |
OMIM:612089 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hyperphosphaturia, Recurrent fractures, Horseshoe kidney, Hypophosphatemic rickets |
OMIM:163200 |
| Bartter Syndrome Type 4 |
|
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... |
ORPHA:89938 |
| Jaberi-Elahi Syndrome |
|
Distal muscle weakness, Kyphosis, Scoliosis, Failure to thrive, Muscle weakness |
OMIM:617988 |
| Alexander Disease |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Self-injurious behavior, Scoliosis, Dysphagia,... |
ORPHA:58 |
| Emanuel Syndrome |
|
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Joint contractu... |
OMIM:609029 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Bulbar palsy, Kyphosis, Contractures of the large joints, Dysphagia, Failure to thrive, Hypomimic... |
OMIM:617527 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Facial palsy, Anorexia, Hyperlordosis, Cachexia, Kyphosis, Abnormality o... |
ORPHA:1328 |
| Oculoskeletodental Syndrome |
|
Renal agenesis, Splenomegaly, Elbow flexion contracture, Hypercalciuria, Mucopolysacchariduria, H... |
OMIM:618440 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria |
OMIM:250900 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Renal salt wasting |
OMIM:264350 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Camptodactyly of finger, Aggressive behavio... |
OMIM:309000 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compulsive behaviors, Failur... |
ORPHA:209905 |
| Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Kyphosis, Flexion contracture, Increased body weight, Abdominal obesity, Abnormal te... |
ORPHA:398069 |
| Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Self-injurious behavior... |
ORPHA:192 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Kyphosis, Compulsive behaviors, Scoliosis, Attention deficit hyperactivity d... |
ORPHA:476126 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity |
ORPHA:3157 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Short attention span, Impulsivity, Aggressive behavior, Hypophosphaturi... |
ORPHA:73223 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Abnormally ossified vertebrae, Skeletal muscle atrophy, Shoulder flexion contrac... |
ORPHA:800 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Failure to thrive, Short neck |
OMIM:608776 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r... |
ORPHA:521426 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Obesity, Compulsive behaviors, Scoliosis |
OMIM:618443 |
| Marden-Walker Syndrome |
|
Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Scoliosis, Camptodactyly, Jo... |
OMIM:248700 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
| Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
| Pelizaeus-Merzbacher Disease |
|
Kyphosis, Cachexia, Failure to thrive in infancy, Scoliosis |
ORPHA:702 |
| Renal Hypoplasia |
|
Polydipsia, Small for gestational age |
ORPHA:93101 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
| Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Ketotic hypoglycemia, Anorexia, Renal salt wasting, Hypoglyce... |
ORPHA:361 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Generalized muscle weakness |
ORPHA:91351 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Hyperactivity, Small for gestational age, Impulsivity, Kyphosis,... |
OMIM:610443 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Flexion contracture |
OMIM:618201 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting |
OMIM:203400 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal... |
OMIM:617913 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Irritability, ... |
OMIM:618278 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
| Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange... |
OMIM:607015 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon... |
OMIM:253220 |
| Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Muscle weakness, Anorexia, Weight loss |
ORPHA:520 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephroblastoma, Osteoporosis, Nephrolithiasis, Renal cyst, ... |
ORPHA:99880 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
EEG abnormality, Aminoaciduria, Abnormal pinna morphology |
OMIM:273400 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Joint contracture, Scoliosis |
OMIM:615381 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
| Familial Hypoaldosteronism |
|
Decreased urinary potassium, Orthostatic hypotension, Proximal renal tubular acidosis, Renal salt... |
ORPHA:427 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Renal salt wasting |
OMIM:614736 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Renal salt wasting, Osteoporosis, Abnormal urine potassium concentration, ... |
ORPHA:168558 |
| Wolfram Syndrome |
|
Myopathy, Polydipsia, Ophthalmoplegia |
ORPHA:3463 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Sensorineural hearing impairment, HbH hemoglobin, Low-set ears |
ORPHA:423479 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Attention deficit ... |
OMIM:618050 |
| Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Multiple ... |
OMIM:145981 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephroblastoma, Osteoporosis, Nephrolithiasis, Renal cyst, ... |
ORPHA:143 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Hypercalciuria, Renal cyst, Multifocal epileptiform discharges, Nep... |
ORPHA:369837 |
| 2P15P16.1 Microdeletion Syndrome |
|
Facial palsy, Camptodactyly of finger, Kyphosis, Dysphagia, Attention deficit hyperactivity disor... |
ORPHA:261349 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Renal salt wasting, Osteoporosis, Abnormal urine potassium concentration, ... |
ORPHA:289548 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasi... |
OMIM:600001 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Agitation, Truncal obesity |
OMIM:610475 |
| Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... |
ORPHA:15 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Camp... |
OMIM:214110 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Umbilical hernia, Hiatus hernia |
OMIM:619769 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
| Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
| Genitopalatocardiac Syndrome |
|
Kyphosis, Congenital diaphragmatic hernia, Scoliosis |
ORPHA:2075 |
| Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Orthostatic hypotension |
ORPHA:556037 |
| Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis |
OMIM:251450 |
| 3M Syndrome |
|
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Attention deficit hyperactivity disorder, Compulsive behaviors, Scoliosis |
ORPHA:404440 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Failure to thrive |
OMIM:617602 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Renal insufficiency, Eosinophilia, Glomerulonephrit... |
ORPHA:3261 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia |
OMIM:617281 |
| Prader-Willi Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Kyphosis, Obesity, Self-injurious behavior, ... |
OMIM:176270 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia |
ORPHA:369929 |
| Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Orthostatic hypotension |
ORPHA:556030 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
| Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
| Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Addictive alcohol use |
ORPHA:166119 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Exaggerated startle response, Optic disc pallor, Uterine prolapse, Oste... |
ORPHA:438213 |
| Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis |
ORPHA:1798 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Mixed hearing impairment, Joint hypermobility, Sensorineural hearing impairment, Hypercalciuria, ... |
OMIM:300990 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
| Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria, Hearing impairment |
ORPHA:414 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Short attention span, Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Hypospadias, Posteriorly rotated ears, Sensorineural hearing impairment, Epiph... |
OMIM:214100 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Polyphagia |
OMIM:300942 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Short neck... |
OMIM:265000 |
| Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Kyphosis, Self-injurious behavior, Scoliosis |
ORPHA:568 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies... |
ORPHA:2461 |
| Cockayne Syndrome Type 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Limb hypertonia |
ORPHA:90322 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:601198 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Partial development of the penile shaft |
OMIM:608800 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Scol... |
ORPHA:2215 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Scoliosis |
OMIM:162300 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia |
OMIM:617190 |
| Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Scoliosis |
OMIM:618493 |
| Argininosuccinic Aciduria |
|
EEG abnormality, Aminoaciduria, Oroticaciduria |
ORPHA:23 |
| Harrod Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis |
ORPHA:2115 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Methanol Poisoning |
|
Addictive alcohol use |
ORPHA:31825 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly |
ORPHA:88628 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
| Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
| Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
| Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Narcolepsy, Sensorineural hearing impairment, Depression, Self-injurious beh... |
ORPHA:293987 |
| Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies |
OMIM:130720 |
| Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
| Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Agitation, Truncal obesity |
OMIM:610489 |
| Distal Triplication 15Q |
|
Large for gestational age, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly |
ORPHA:314588 |
| Adrenal Hypoplasia, Congenital |
|
Renal salt wasting |
OMIM:300200 |
| Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Decreased skull ossification, Abnormal dental en... |
ORPHA:666 |
| Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Weight loss, Dysphagia |
ORPHA:537 |
| Rabson-Mendenhall Syndrome |
|
Macroglossia, Polydipsia |
ORPHA:769 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Brain abscess, Polycythemia, Anemia |
OMIM:600376 |
| Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
| Cono-Spondylar Dysplasia |
|
Kyphosis, Failure to thrive, Scoliosis, Short neck |
ORPHA:420794 |
| Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
| Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... |
OMIM:253010 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis |
ORPHA:582 |
| Weaver Syndrome |
|
Diastasis recti, Kyphosis, Scoliosis, Camptodactyly, Joint contracture of the hand, Polyphagia |
OMIM:277590 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
| Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis |
ORPHA:3121 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis, Decreased body weight, Abnormal re... |
OMIM:619005 |
| Rett Syndrome, Congenital Variant |
|
Kyphosis, Tongue thrusting, Scoliosis, Bruxism, Abnormal repetitive mannerisms |
OMIM:613454 |
| Monosomy 9Q22.3 |
|
Hyperactivity, Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Abnormality of ... |
ORPHA:77301 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Scoliosis, Overfriendliness |
ORPHA:96169 |
| 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 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body, Inappropriate laughter |
OMIM:618476 |
| Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... |
OMIM:203500 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Anorexia, Optic neuropathy, Splenomegaly, Bone cyst, Hypercalciuria, Arthritis |
OMIM:181000 |
| Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal repetitive mannerisms, Scoliosis |
ORPHA:2479 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Ophthalmoplegia, Lower limb hypertonia, Neck muscle weakness, Foot dorsiflexor weakness |
ORPHA:171629 |
| Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Addictive alcohol use |
ORPHA:90065 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal hypoglycemia, Hypospadias, Penoscrotal hypospadias, Renal salt wasting |
ORPHA:90791 |
| Trisomy 20P |
|
Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral s... |
ORPHA:261318 |
| Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, Macroglossia, Bico... |
OMIM:607014 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Aggressive behavior |
OMIM:619244 |
| Trisomy 13 |
|
Kyphosis, Scoliosis |
ORPHA:3378 |
| Interstitial Lung And Liver Disease |
|
Thrombocytosis, Aminoaciduria, Anemia |
OMIM:615486 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Brain abscess, Polycythemia, Anemia |
OMIM:187300 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... |
OMIM:105650 |
| Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
| Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
| Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies |
OMIM:230500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Flexion contracture, Optic atrophy |
OMIM:253800 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Failure to thrive, Flexion contracture, Muscle weakness |
OMIM:212065 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Tinnitus, Increased urinary potassium |
ORPHA:231625 |
| Alkaptonuria |
|
Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density, Arthritis, Aminoa... |
ORPHA:56 |
| Erdheim-Chester Disease |
|
Polydipsia, Weight loss |
ORPHA:35687 |
| Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:614250 |
| Enamel-Renal Syndrome |
|
Renal insufficiency, Abnormal dental enamel morphology, Hypophosphaturia, Impaired renal concentr... |
ORPHA:1031 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria |
ORPHA:2239 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis, Dysphagia, Achalasia, Ineffective esophageal peristalsis |
OMIM:619482 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria |
OMIM:242050 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Abnormality of the cervical spine, Hyperactivity, Multiple joint contractures, Small for gestatio... |
ORPHA:464306 |
| 3C Syndrome |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
ORPHA:7 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Oral-pharyngeal dysphagia, Kyphosis, Prominent protruding coccyx, Prom... |
OMIM:300966 |
| Mend Syndrome |
|
Hyperactivity, Sacral dimple, Aggressive behavior, Kyphosis, Failure to thrive, Limb hypertonia |
ORPHA:401973 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
| Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:2789 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Small earlobe, Hypospadias, Urinary incontinenc... |
OMIM:619522 |
| Pycnodysostosis |
|
Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
ORPHA:763 |
| 16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Dysphagia |
ORPHA:261250 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Camptodactyly of finger, Scoliosis |
OMIM:619951 |
| Acute Lung Injury |
|
Addictive alcohol use |
ORPHA:178320 |
| Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
| Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Kyphosis, Flexion contracture, Short neck |
OMIM:309900 |
| Sarcoidosis |
|
Hemolytic anemia, Renal insufficiency, Eosinophilia, Facial palsy, Scarring, Increased T cell cou... |
ORPHA:797 |
| 15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Depression, Tubulointerstitial nephritis, Aminoac... |
OMIM:124000 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Long penis, Increased urinary 11-deoxycorticosterone level, Renal salt wasting |
ORPHA:90795 |
| Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Renal insufficiency, Hypoglycemia, Confusion, Anorexia, Aggressive ... |
ORPHA:99826 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalciuria, Hypocalciuria, Nephrolithiasis |
OMIM:145980 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Knee flexion contracture, Kyphosis, Dysphagia |
OMIM:619708 |
| Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Nephrocalcinosis, Glucose intolerance, Vesicoureteral reflux, Mi... |
OMIM:194050 |
| Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Tremor, Urinary retention, Postprandial hyperglycemia, Abnormality o... |
ORPHA:79102 |
| Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture, Anorexia |
ORPHA:77259 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, EEG with generalized slow activity, Dysphagia |
OMIM:618367 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Abnormal curvature of the vertebral column, Tics, Compulsive behaviors, Abnormal repet... |
OMIM:619475 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Hyperactivity, Recurrent urinary tract infections, Hypospadias, Impulsivity, Aggres... |
ORPHA:353281 |
| Noonan Syndrome 14 |
|
Kyphosis, Scapular winging, Short neck |
OMIM:619745 |
| Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Aganglio... |
ORPHA:653 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphoscoliosis, Impulsivity, Aggressive behavior, Kyphosis, Left ventricular noncompaction, Scoli... |
OMIM:300967 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
| African Trypanosomiasis |
|
Papilledema, Renal insufficiency, Urinary incontinence, Aggressive behavior, Tremor, Splenomegaly... |
ORPHA:3385 |
| Mgat2-Cdg |
|
Kyphosis, Failure to thrive, Stereotypical hand wringing, Scoliosis |
ORPHA:79329 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Multiple Endocrine Neoplasia Type 1 |
|
Short attention span, Confusion, Anorexia, Cranial nerve compression, Nephrolithiasis, Osteolysis... |
ORPHA:652 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
| Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... |
ORPHA:3042 |
| Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Amin... |
ORPHA:910 |
| Opsismodysplasia |
|
Renal phosphate wasting, Posteriorly rotated ears, Low-set ears |
OMIM:258480 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Scoliosis, Aggress... |
ORPHA:464738 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Tremor, Abnormal tubulointerstitial morphology, Protruding ear, ... |
ORPHA:904 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:300971 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
| Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
| Marfan Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Attention deficit hyperactivity disorder, Scoliosis,... |
ORPHA:558 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Overfriendliness, Sacral dimple, Small for gestational age, Hyperlordosis, K... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Overfriendliness, Sacral dimple, Small for gestational age, Hyperlordosis, K... |
ORPHA:363958 |
| Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
| Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
| Argininosuccinic Aciduria |
|
Irritability, Aminoaciduria, Oroticaciduria |
OMIM:207900 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular hypertrophy, Addictive alcohol use |
ORPHA:57777 |
| Alstrom Syndrome |
|
Kyphosis, Truncal obesity, Scoliosis |
OMIM:203800 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Scoliosis |
OMIM:619557 |
| Staphylococcal Necrotizing Pneumonia |
|
Addictive alcohol use |
ORPHA:36238 |
| Cohen Syndrome |
|
Kyphosis, Failure to thrive in infancy, Obesity, Scoliosis |
ORPHA:193 |
| Liver Disease, Severe Congenital |
|
Joint laxity, Short attention span, Recurrent urinary tract infections, Inguinal hernia, Hypospad... |
OMIM:619991 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Abnormal form of the vertebral bodies, ... |
ORPHA:280 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Scoliosis |
OMIM:616449 |
| Ethylene Glycol Poisoning |
|
Ophthalmoplegia, Addictive alcohol use, Facial palsy |
ORPHA:31826 |
| Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Kyphosis, Slen... |
ORPHA:457359 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Thoracic kyphos... |
OMIM:602535 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Kyphosis, Polyphagia, Spinal canal stenosis, Obesity, Self-injurious beh... |
ORPHA:1606 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Scapular winging |
OMIM:616914 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:251014 |
| Micro Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2510 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalci... |
ORPHA:508 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Contracture of ... |
ORPHA:2232 |
| Mucolipidosis Type Ii |
|
Hip contracture, Diastasis recti, Kyphosis, Knee flexion contracture, Weight loss, Left ventricul... |
ORPHA:576 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
| Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Hyperphosphaturia, Mixed hearing impairment, Calcification of the auricular car... |
ORPHA:51608 |
| Stickler Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebra... |
ORPHA:828 |
| Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Camptodactyly |
OMIM:619123 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro... |
OMIM:619194 |
| Cowden Syndrome 5 |
|
Kyphosis, Scoliosis |
OMIM:615108 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... |
OMIM:143095 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly |
OMIM:616894 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Cowden Syndrome 6 |
|
Kyphosis, Scoliosis |
OMIM:615109 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
| Primrose Syndrome |
|
Restlessness, Hip contracture, Skeletal muscle atrophy, Aggressive behavior, Kyphosis, Flexion co... |
OMIM:259050 |
| Classic Homocystinuria |
|
Kyphosis, Scoliosis, Anorexia |
ORPHA:394 |
| Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight |
OMIM:182210 |
| Poland Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoralis major muscle, He... |
ORPHA:2911 |
| X-Linked Intellectual Disability, Armfield Type |
|
Inguinal hernia, Aminoaciduria, Organic aciduria, Galactosuria, Long ear, Macrotia, Limited elbow... |
ORPHA:85276 |
| Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple, Attention deficit hyperactivity disorder |
OMIM:620185 |
| Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Sel... |
ORPHA:818 |
| Mend Syndrome |
|
Hyperactivity, Kyphosis, Sacral dimple, Failure to thrive |
OMIM:300960 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Decreased muscle mass, Small for gestational age, Kyphosis, Abno... |
OMIM:194190 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
| X-Linked Intellectual Disability, Snyder Type |
|
Kyphosis, Decreased muscle mass, Kyphoscoliosis, Camptodactyly |
ORPHA:3063 |
| Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
| Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Cognitive impairment, Sensorineural hear... |
OMIM:609242 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Small for gestational age, Failure to thrive in infancy, Aggressive behavior, Kyph... |
ORPHA:268261 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
| Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Camptodactyly |
OMIM:249420 |
| Cowden Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:158350 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis |
OMIM:617011 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis |
ORPHA:536532 |
| Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... |
ORPHA:1507 |
| Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly |
ORPHA:1855 |
| Hajdu-Cheney Syndrome |
|
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral bodies, Fa... |
ORPHA:955 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Neonatal hypoglycemia, Renal salt wasting, Long penis, Elevated urinary epinephrine level, Hypern... |
ORPHA:90794 |
| Cowden Syndrome |
|
Macroglossia, Kyphosis, Failure to thrive, Scoliosis |
ORPHA:201 |
| Cockayne Syndrome Type 3 |
|
Kyphosis, Flexion contracture, Scoliosis, Skeletal muscle atrophy |
ORPHA:90324 |
| Porphyria Cutanea Tarda |
|
Addictive alcohol use |
ORPHA:101330 |
| Zttk Syndrome |
|
Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis, Failure to thrive |
OMIM:617140 |
| Ramon Syndrome |
|
Kyphosis, Scoliosis, Decreased body weight |
OMIM:266270 |
| Aspartylglucosaminuria |
|
Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spo... |
OMIM:208400 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Contractures of the large joints, Congenital contrac... |
ORPHA:191 |
| Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia |
ORPHA:731 |
| Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Kyphosis, Facial palsy, Scoliosis |
ORPHA:2658 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
| Coffin-Siris Syndrome 1 |
|
Sacral dimple, Congenital diaphragmatic hernia, Aggressive behavior, Kyphosis, Compulsive behavio... |
OMIM:135900 |
| Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis, Dysphagia |
ORPHA:198 |
| Wrinkly Skin Syndrome |
|
Scapular winging, Hypoplasia of the musculature, Kyphosis, Scoliosis, Failure to thrive |
OMIM:278250 |
| Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
| Cystic Fibrosis |
|
Hypercalciuria, Hepatosplenomegaly |
OMIM:219700 |
| Lymphedema-Distichiasis Syndrome |
|
Kyphosis |
OMIM:153400 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Failure to... |
ORPHA:2273 |
| Proteus Syndrome |
|
Decreased muscle mass, Cachexia, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Myof... |
ORPHA:744 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Attention deficit hyperactivity diso... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Attention deficit hyperactivity diso... |
ORPHA:99228 |
| Monosomy X |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Attention deficit hyperactivity diso... |
ORPHA:99226 |
| Turner Syndrome |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Attention deficit hyperactivity diso... |
ORPHA:881 |
| Acromegaly |
|
Macroglossia, Kyphosis, Spinal canal stenosis |
ORPHA:963 |
| Somatomammotropinoma |
|
Macroglossia, Kyphosis, Spinal canal stenosis |
ORPHA:314769 |
| Coffin-Lowry Syndrome |
|
Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
| Neurofibromatosis Type 1 |
|
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis |
ORPHA:636 |
| Viss Syndrome |
|
Kyphosis, Macroglossia, Scoliosis, Dysphagia, Failure to thrive, Contracture of the proximal inte... |
OMIM:619472 |
| Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly |
OMIM:304150 |
| Sotos Syndrome |
|
Sacrococcygeal teratoma, Hip contracture, Ankle flexion contracture, Aggressive behavior, Kyphosi... |
ORPHA:821 |
| Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
| 17Q11 Microdeletion Syndrome |
|
Rhabdomyosarcoma, Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-... |
ORPHA:97685 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
| Branchiooculofacial Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture |
OMIM:113620 |
| Yunis-Varon Syndrome |
|
Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy... |
OMIM:216340 |
| Alström Syndrome |
|
Thoracic scoliosis, Kyphosis, Obesity, Truncal obesity, Lumbar scoliosis, Polyphagia |
ORPHA:64 |
