Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... |
OMIM:600175 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Generalized amyotrophy, Myopathy, Dysphagia, Poor head control, Flexion contracture, Scoliosis, K... |
OMIM:618323 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... |
OMIM:616471 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness, Distal muscle weakness, Dysphagia |
OMIM:147421 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Dysphagia, Muscle weakness |
ORPHA:85162 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Foot dorsiflexor weakness, Proximal muscle weakness, Respiratory insufficiency due to m... |
OMIM:617087 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Joint contracture, Scoliosis, Kyphosis |
OMIM:611225 |
Nemaline Myopathy 7 |
|
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Neck m... |
OMIM:610687 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Renal potassium was... |
ORPHA:18 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Lu... |
OMIM:619042 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Familial Hypocalciuric Hypercalcemia |
|
Chondrocalcinosis, Hypocalciuria, Hypomagnesiuria, Osteomalacia, Nephrolithiasis, Parathormone-in... |
ORPHA:405 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Congenital Myopathy 23 |
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Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Neck muscle weakness, Limb muscle weakness... |
OMIM:609285 |
Myopathy, Sarcoplasmic Body |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Generalized muscle weakness, Proximal muscle weakness, Proximal amyotrophy, Dysphagia, Shoulder g... |
OMIM:606612 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
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Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ... |
OMIM:607088 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
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Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Hip contracture, Spinal musc... |
OMIM:615290 |
Congenital Myopathy 6 With Ophthalmoplegia |
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Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
Erythrocytosis, Familial, 4 |
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Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Knee flexion contracture, Kyphoscoliosis, Dysphagia, Low... |
ORPHA:496689 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Kypho... |
OMIM:618484 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Gowers sign, EMG: myopathic abnormalities, Proximal m... |
OMIM:255200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Nephrocalcinosis, Depression, Emotional lability, Fatigable weakness, Hypercalciur... |
ORPHA:428 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
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Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Increased endomysial conn... |
ORPHA:75840 |
Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis, Flexion contracture |
OMIM:168400 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Proximal muscle weakness, Proximal amyotrophy, Hyperlordosis, Gowers sign, Scoliosis, Kyphosis, S... |
OMIM:617404 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c... |
OMIM:616668 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... |
OMIM:618654 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Elbow flexion contracture, Lumbar hyperlordosis, Abnormality of the s... |
ORPHA:206546 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Ophthalmoparesis, Scoliosis, Skeletal muscle atrophy, Neck muscle weakness, Fatigable weakness, P... |
OMIM:617143 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
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Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:617760 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Rickets, Gl... |
OMIM:613388 |
East Syndrome |
|
Polydipsia, Renal magnesium wasting, Abnormal urinary electrolyte concentration, Action tremor, R... |
ORPHA:199343 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Distal muscle weakness, Scoliosis, Kyphosis, Skeletal muscle atrophy |
ORPHA:101078 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Proximal muscle weaknes... |
OMIM:605588 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Abnormality of the kidney |
ORPHA:284227 |
Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Muscle fiber splitting, Scapular mu... |
OMIM:181405 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis |
OMIM:271200 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hypomature enamel, Hematuria, Macroscopic hematuria, Rickets, Renal magne... |
OMIM:248250 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creati... |
OMIM:615605 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Kyphoscoliosis, Ophthalmoplegia, Resp... |
OMIM:607855 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... |
OMIM:618314 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... |
OMIM:248190 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Attention deficit hyperactivity disorder, Facial myokymia, Kyphosis, Failure to thrive |
OMIM:620007 |
Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, H... |
ORPHA:1652 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... |
OMIM:613673 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... |
OMIM:134600 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Kyphosis, Hyperactivity |
ORPHA:85288 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Myopathy, Myofibrillar, 7 |
|
Spinal rigidity, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle f... |
OMIM:617114 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Scoliosis, Kyphosis |
ORPHA:101075 |
Bethlem Muscular Dystrophy |
|
Neck muscle weakness, Gowers sign, Spinal rigidity, Rimmed vacuoles, Ankle flexion contracture, M... |
ORPHA:610 |
Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... |
ORPHA:536516 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Neck muscle weakness, Limb muscle weakness, Kyphoscoliosis, Aggressive behavior, Bulbar palsy, Dy... |
OMIM:614707 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Aganglionic megacolon, Tot... |
OMIM:600501 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Ax... |
ORPHA:178148 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor |
OMIM:250800 |
Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized amyotrophy, Failu... |
OMIM:254090 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia, Kyphosis |
OMIM:609384 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Reticulocytosis, Irritability, Tremor, EEG abnormality, Dystonia, Hemolytic anemia,... |
OMIM:612126 |
Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
ORPHA:171436 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting |
ORPHA:564178 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatemic rickets, Tremor, Protein... |
ORPHA:263455 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial m... |
ORPHA:352447 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Hyperlysinemia, Type I |
|
Hyperlysinuria, Short attention span, Cystinuria, Cognitive impairment, Hyperactivity, Anemia, Or... |
OMIM:238700 |
Cdkl5-Deficiency Disorder |
|
Bruxism, Inappropriate laughter, Stereotypical hand wringing, Poor head control, Scoliosis, Kyphosis |
ORPHA:505652 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinur... |
ORPHA:436271 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Macroglossia, Muscular dystrophy, Shoulder girdle muscle weakness, Proximal muscle weakness, Calf... |
OMIM:607155 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Osteopenia,... |
ORPHA:2088 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Kyphosis, Muscle weakness, Skeletal muscle hypertrophy |
ORPHA:99014 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98855 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia, Interictal epileptiform activity,... |
OMIM:618857 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Proximal muscle weakness, Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis |
OMIM:607831 |
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Progressive muscle weakn... |
OMIM:151800 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... |
ORPHA:98863 |
Poems Syndrome |
|
Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomega... |
ORPHA:2905 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Rickets, Hearing impairment, Glycosuria, Stage 5 chronic kidney disease, Sensorine... |
OMIM:268315 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Gaisböck Syndrome |
|
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Idiopathic Hypercalciuria |
|
Osteopenia, Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis, Osteoporosis |
ORPHA:2197 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... |
ORPHA:40 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity, Foot dorsiflexor weakness, Ophthalmoplegia, Distal muscle weakness, Scoliosis, Kyphosis |
OMIM:618124 |
Hypomagnesemia 2, Renal |
|
Chondrocalcinosis, Renal insufficiency, Renal magnesium wasting, Hypocalciuria |
OMIM:154020 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Hypoglycemia, Hyperphosphaturia, Proteinuri... |
OMIM:616026 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... |
ORPHA:98853 |
Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Thrombocytopenia, Anemia, Red... |
ORPHA:848 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Central Core Disease |
|
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Kyphosc... |
ORPHA:597 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Confusion, Renal insufficiency, Reticuloc... |
ORPHA:54057 |
Wilson Disease |
|
Osteomalacia, Limb dystonia, Dysphagia, Increased urinary copper concentration, Aminoaciduria, Ha... |
OMIM:277900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Bruxism, Scoliosis, Kyphosis, Hyperactivity |
OMIM:300434 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glyco... |
OMIM:227810 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
Mohr-Tranebjaerg Syndrome |
|
Mental deterioration, Optic atrophy, Prelingual sensorineural hearing impairment, Focal dystonia,... |
ORPHA:52368 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Megaloblastic anemia, Elevated urinary formiminoglutamic acid level, Hypersegmenta... |
OMIM:229100 |
Sandhoff Disease |
|
Muscle weakness, Kyphosis, Failure to thrive |
ORPHA:796 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Kyphosis |
OMIM:618453 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ... |
OMIM:619040 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... |
OMIM:617519 |
Renal Glucosuria |
|
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria |
OMIM:233100 |
Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Richieri Costa-Da Silva Syndrome |
|
Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter of lumbar vertebral... |
ORPHA:3101 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Intention tremor, Neutropenia |
OMIM:266130 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Congenital foot contractures, Distal amyotrophy, Scoliosis, Kyphosis |
ORPHA:3454 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Glycosuria, Irritability, Ketotic hypoglycemia |
ORPHA:2089 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Kyphoscoliosis, Triceps we... |
OMIM:619574 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... |
ORPHA:3337 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Kyphosis, Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
Mody |
|
Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hy... |
ORPHA:552 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Exercise-induced myoglobinuria, Renal insufficiency, Emotional lability, R... |
OMIM:300653 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Kyphosis |
OMIM:618393 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Myopathy, Kyphosis, Failure to thrive |
OMIM:618237 |
Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ... |
OMIM:248800 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Progressive external ophthalmo... |
OMIM:615084 |
Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... |
OMIM:271530 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Rickets, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, An... |
OMIM:611590 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Sensorine... |
OMIM:220110 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Kyphosis, Congenital contracture, Arthrogryposis multiplex congeni... |
ORPHA:352490 |
Gitelman Syndrome |
|
Chondrocalcinosis, Hypocalciuria, Renal magnesium wasting, Enuresis, Polydipsia, Salt craving, Po... |
OMIM:263800 |
Familial Renal Glucosuria |
|
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections |
ORPHA:69076 |
Central Diabetes Insipidus |
|
Weight loss, Polydipsia, Failure to thrive, Anorexia |
ORPHA:178029 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:30925 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
External ophthalmoplegia, Skeletal muscle atrophy, Neck muscle weakness, Hand muscle atrophy, Gen... |
OMIM:211530 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Muscular dystrophy, Obesity, Kyphoscoliosis, Distal lower li... |
ORPHA:459033 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Depression, Restlessness, Abnormal fear-induced behavior, Hearing impa... |
ORPHA:100924 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial diplegia, Short neck, Respira... |
OMIM:611890 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... |
OMIM:609813 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Fumarase Deficiency |
|
Aminoaciduria, Optic atrophy, Elevated urine fumaric acid level, Polycythemia, Reduced subcutaneo... |
OMIM:606812 |
Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Tinnitus, Thrombocytosis, Myelofibrosis |
ORPHA:729 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Polycythemia, Tremor |
OMIM:613280 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne... |
OMIM:612286 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Low-set ears, Nephropathy, Nephrocalcinosis, Aminoaciduria, Glycosuria, Renal tubular acidosis, P... |
OMIM:613404 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Upper limb hypertonia, Kyphosis, Failure to thrive |
ORPHA:319199 |
Livedoid Vasculopathy |
|
Polycythemia, Atrophic scars, Pancytopenia, Leukocytosis, Abnormality of the peripheral nervous s... |
ORPHA:542643 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Recurrent fractures, Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopeni... |
OMIM:611490 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy, Scoliosis, Kyphosis, Failure to thrive |
OMIM:618234 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Flexion contr... |
OMIM:616470 |
O'Donnell-Luria-Rodan Syndrome |
|
Self-injurious behavior, Skin-picking, Aggressive behavior, Kyphosis |
OMIM:618512 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Splenomegaly, Sensorineural hearing impairment |
OMIM:230350 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger |
ORPHA:1325 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Polyuria, ... |
OMIM:613845 |
Ck Syndrome |
|
Slender build, Aggressive behavior, Hyperlordosis, Hyperactivity, Scoliosis, Kyphosis |
OMIM:300831 |
Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... |
ORPHA:33543 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Delayed ... |
OMIM:300554 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Osteoporosis |
OMIM:204730 |
Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Kyphosis, Decreased body weight |
OMIM:618392 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Recurrent fractures, Splenomegaly |
ORPHA:417 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Rickets, Glycosuria, Polydipsia, Low-molecular-weight proteinuria, Hyperphosphatur... |
ORPHA:411629 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Glycosuria, Hearing impairment, Dysphagia, Pure red cell aplasia, Hemolytic... |
ORPHA:589 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... |
ORPHA:47159 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne... |
OMIM:612287 |
Down Syndrome |
|
Conductive hearing impairment, Polycythemia, Umbilical hernia, Type II diabetes mellitus, Acute m... |
ORPHA:870 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... |
OMIM:618849 |
Hypophosphatasia, Infantile |
|
Unossified vertebral bodies, Nephrocalcinosis, Phosphoethanolaminuria, Increased susceptibility t... |
OMIM:241500 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepa... |
ORPHA:231222 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Cystinosis |
|
Polydipsia, Failure to thrive, Myopathy, Motor stereotypy, Muscle weakness |
ORPHA:213 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Scoliosis, Kyphosis, Obesity |
OMIM:616756 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Glycosuria, Glucose intolerance, Renal tubular dysfunction, Irritability, Tremor, Elevated hemogl... |
OMIM:616539 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Neuromuscular d... |
ORPHA:206443 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Aggressive behavior, Limb hypertonia, Hyperactivity, Dysphagia, Kyphosis, Impulsivity |
ORPHA:500180 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Acute kidney injury, Glycosuria, Pancytopenia, Leukopenia, Erythroid hype... |
ORPHA:447 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Achalasia, Macroglossia, Scoliosis, Dysphagia, Kyphosis |
ORPHA:79107 |
Cataract 47 |
|
Glycosuria |
OMIM:612018 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Nephritis, Glycosuria, Insulin-resistant diabetes... |
ORPHA:2298 |
Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ... |
OMIM:300555 |
Cranioectodermal Dysplasia 1 |
|
Low-set ears, Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, St... |
OMIM:218330 |
Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Skeletal muscle atrophy, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis |
OMIM:230650 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Kleefstra Syndrome 2 |
|
Self-injurious behavior, Scoliosis, Kyphosis |
OMIM:617768 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Hyperphosphaturia, Tooth abscess, Iron deficiency anemia |
ORPHA:89937 |
Cystinosis, Nephropathic |
|
Hematuria, Dysphagia, Aminoaciduria, Generalized aminoaciduria, Rickets, Polydipsia, Renal insuff... |
OMIM:219800 |
Sialidosis Type 2 |
|
Flexion contracture, Skeletal muscle atrophy, Kyphosis, Muscle weakness |
ORPHA:87876 |
Dermotrichic Syndrome |
|
Aminoaciduria, Aganglionic megacolon, EEG abnormality, Anemia, Macrotia |
ORPHA:99688 |
Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Glycosuria |
OMIM:606824 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Obesity, Polyphagia, Skin-picking, Camptodactyly, Flexion contractu... |
OMIM:615547 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria, Hyperprost... |
ORPHA:73224 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... |
ORPHA:2020 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Hyperactivity, Scoliosis, Arthrogryposis multiplex congenita, Small for gestational age |
OMIM:615834 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Scoliosis, Kyphosis |
ORPHA:276630 |
Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Irritability, Joint co... |
OMIM:616881 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... |
OMIM:616943 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Abnormal auditory evoked potentials, Urinary retention, Abnormality o... |
ORPHA:99027 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Confusion, Elevated circulating creatinine concentration, Reti... |
OMIM:274150 |
Lopes-Maciel-Rodan Syndrome |
|
Bruxism, Motor stereotypy, Scoliosis, Dysphagia, Kyphosis, Agitation |
OMIM:617435 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Campt... |
OMIM:604273 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Optic atrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Sen... |
OMIM:249270 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:95626 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Muscular dystrophy, Kyphosis |
ORPHA:1875 |
Harderoporphyria |
|
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Increased urine hard... |
OMIM:618892 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Hip contracture, Knee flexion contracture, Thoracolumbar scoliosis, Kyphosis |
OMIM:313420 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... |
OMIM:174000 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Nephrocalcinosis, Chondrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypercal... |
ORPHA:99879 |
Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... |
ORPHA:84081 |
Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
Stiff-Person Syndrome |
|
Depression, Opisthotonus, Exaggerated startle response, Anemia, Diabetes mellitus |
OMIM:184850 |
Mcdonough Syndrome |
|
Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis |
ORPHA:2471 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Scoliosis, Kyphosis |
OMIM:301900 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Ren... |
OMIM:231680 |
Lead Poisoning |
|
Chronic kidney disease, Memory impairment, Depression, Imbalanced hemoglobin synthesis, Cranial h... |
ORPHA:330015 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Obesity, Polydipsia, Truncal obesity |
OMIM:615986 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Rickets, Distal renal tubular acidosis, Hypercalciuria, Bilateral sensorineural... |
OMIM:602722 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Resting tremor, Focal EEG discharges with secondary generalizatio... |
ORPHA:3077 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Hearing impairment, Methylmalonic aciduria, Microcytic anemia, Facial diplegia, Se... |
OMIM:612073 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Chorioretinal scar, Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, A... |
ORPHA:91500 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Multiple joint contractures, Hyperlordosis, Torticollis, Dysphagia, Facial palsy, Scoliosis, Kyph... |
OMIM:128100 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Facial diplegia, Hearing impairment, Irritability |
OMIM:609560 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Scoliosis, Kyphosis, Muscle weakness |
ORPHA:85317 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Increased mean corpuscular volume, Atresia of the external auditor... |
OMIM:300946 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Low-set ears, Osteopenia, Hypercalciuria, Micropenis, Craniosynostosis, Hypospadias |
OMIM:614732 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcytic an... |
ORPHA:3240 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormality of the cervical spine, Finger joint contracture, Acute rhabdomyolysis, Scoliosis, Kyp... |
ORPHA:48431 |
Renal Tubular Acidosis, Proximal |
|
Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re... |
OMIM:179830 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,... |
ORPHA:411634 |
Stimmler Syndrome |
|
Abnormal dental enamel morphology, Type II diabetes mellitus, Aminoaciduria |
ORPHA:3199 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Reticulocytosis, Tremor, Myoglobinuria, Hemolytic anemia, Decreased hemoglob... |
ORPHA:713 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Scoliosis, Kyphosis, Lower limb muscle weakness, Limb muscle weakness |
OMIM:614409 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit |
ORPHA:79126 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Delayed epiphyseal ossification, Rickets, Hypop... |
OMIM:241530 |
Ogden Syndrome |
|
Low-set ears, Polycythemia, Umbilical hernia, Recurrent otitis media, Inguinal hernia, Irritabili... |
OMIM:300855 |
Seckel Syndrome 10 |
|
Insulin resistance, Glycosuria, Glucose intolerance, Elevated hemoglobin A1c, Diabetes mellitus, ... |
OMIM:617253 |
Beckwith-Wiedemann Syndrome |
|
Nephropathy, Hearing impairment, Abnormal earlobe morphology, Congenital diaphragmatic hernia, Ne... |
ORPHA:116 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Foot joint contracture, Hearing impairment, Renal insufficiency, Abnormality of pe... |
ORPHA:90321 |
Rett Syndrome |
|
Skeletal muscle atrophy, Bruxism, Stereotypical hand wringing, Cachexia, Scoliosis, Kyphosis |
OMIM:312750 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Weakness of facial musculature, Short neck, Dysphagia, Achilles tendon contractu... |
OMIM:301041 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Von Hippel-Lindau Syndrome |
|
Polycythemia, Sensorineural hearing impairment, Tinnitus, Multiple renal cysts, Renal cell carcinoma |
OMIM:193300 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Elevated circulating creatinine concentr... |
ORPHA:85450 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... |
OMIM:601455 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia, Nephrolithiasis |
OMIM:222730 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Scoliosis, Kyphosis, Truncal obesity |
ORPHA:2429 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Polydipsia, Muscle weakness |
ORPHA:251274 |
Sialidosis Type 1 |
|
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Decreased nerve conduction veloc... |
ORPHA:812 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:237800 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Multiple joint contractures, Respira... |
OMIM:618291 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Aggressive behavior, Hyperactivity, Abdominal obesity, Macroglossia... |
OMIM:300354 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Slender build, Self-mutilation, Aggressive behavior, Facial hypotonia, Abnormality of muscle size... |
ORPHA:364028 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Decreased nerve conduction velocity, Head tremor, Restless legs, Sensorineural heari... |
ORPHA:101085 |
Flynn-Aird Syndrome |
|
Cachexia, Scoliosis, Kyphosis, Skeletal muscle atrophy |
ORPHA:2047 |
Arthrogryposis, Distal, Type 5 |
|
Firm muscles, Decreased muscle mass, Ophthalmoplegia, Distal arthrogryposis, Congenital finger fl... |
OMIM:108145 |
Wieacker-Wolff Syndrome |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Congenital foot contractures, Short neck, ... |
OMIM:314580 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Chondrocalcinosis, Depression, Hypocalciuria, Multiple small medullary renal cysts, Osteomalacia,... |
OMIM:600740 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Zimmermann-Laband Syndrome 3 |
|
Flexion contracture, Kyphosis |
OMIM:618658 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Galactosemia I |
|
Aminoaciduria, Galactosuria, Reduced erythrocyte galactose-1-phosphate uridylyltransferase activi... |
OMIM:230400 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Osteopenia, Depression, Abnormal auditory evoked potentials, Abnormal motor evoked... |
ORPHA:909 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Upper limb hypertonia, Lower limb hypertonia |
OMIM:614898 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Pathologic fracture, Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperpho... |
ORPHA:157215 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hyperlordosis, Compulsive behaviors, Scoliosis, Kyphosis, Sacral dimple |
OMIM:615761 |
Hall-Riggs Syndrome |
|
Platyspondyly, Failure to thrive, Scoliosis, Kyphosis, Irregular vertebral endplates |
OMIM:234250 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... |
OMIM:231095 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hydroxyprolinuria, Hearing impairment, Increased bone mineral density, Sensorineural ... |
OMIM:239000 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Lipoid Congenital Adrenal Hyperplasia |
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Renal salt wasting, Hypospadias |
OMIM:201710 |
Arthrogryposis, Distal, Type 2A |
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Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... |
OMIM:193700 |
Masa Syndrome |
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Kyphosis, Hyperlordosis |
OMIM:303350 |
Cockayne Syndrome A |
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Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... |
OMIM:216400 |
Dominant Beta-Thalassemia |
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Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
Imerslund-Gräsbeck Syndrome |
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Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
Metatropic Dysplasia |
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Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Arthrogryposi... |
OMIM:156530 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Osteomal... |
ORPHA:289157 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Diabetes me... |
ORPHA:1215 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Flexion contracture, Distal amyotrophy, Scoliosis, Kyphosis |
OMIM:609541 |
Congenital Disorder Of Glycosylation, Type Iif |
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Aminoaciduria, Proteinuria, Thrombocytopenia, Neutropenia, Macrothrombocytopenia |
OMIM:603585 |
Familial Hyperaldosteronism Type I |
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Polydipsia, Muscle weakness |
ORPHA:403 |
Hypercalcemia, Infantile, 2 |
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Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:616963 |
Glycogen Storage Disease Vii |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglobinuria, Gout, R... |
OMIM:232800 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
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Aminoaciduria |
ORPHA:2278 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic anemia, Low-set, posteriorly rotat... |
ORPHA:98791 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
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Aminoaciduria, Dystonia, Head titubation, Irritability |
OMIM:250620 |
Renal Cysts And Diabetes Syndrome |
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Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of the young, El... |
OMIM:137920 |
Metatropic Dysplasia |
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Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, A... |
ORPHA:2635 |
Nephronophthisis-Like Nephropathy 2 |
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Polydipsia |
OMIM:619468 |
Cockayne Syndrome B |
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Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... |
OMIM:133540 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
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Aminoaciduria, Ketonuria, Umbilical hernia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
Hereditary Methemoglobinemia |
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Methemoglobinemia, Athetosis, Limb dystonia |
ORPHA:621 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Agitation, Skeletal muscle atrophy, Kyphosis, Truncal obesity |
OMIM:219080 |
Pearson Syndrome |
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Hearing impairment, Glycosuria, Pancytopenia, Renal insufficiency, Reticulocytosis, Splenomegaly,... |
ORPHA:699 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Increased mean corpuscular volume, Hearing impairment, Persistence of hemoglobin... |
OMIM:617052 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Short attention span, Irritability, Joint contracture, EEG with generalized slow activity, Exagge... |
OMIM:617864 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Dystonia, Splenomegaly, Action tremor, Polycythemia |
ORPHA:309854 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Atypical Rett Syndrome |
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Restrictive behavior, Bruxism, Inappropriate laughter, Stereotypical hand wringing, Tongue thrust... |
ORPHA:3095 |
Bruck Syndrome 1 |
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Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr... |
OMIM:259450 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Hypoglycemia, Hyperglycemia, EEG with burst suppression, Irritability, Impulsivity, Hypsarrhythmi... |
OMIM:620423 |
Von Hippel-Lindau Disease |
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Polycythemia, Elevated urinary catecholamine level, Papilledema, Multiple renal cysts, Renal cell... |
ORPHA:892 |
Beta-Thalassemia Major |
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Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Hearing impairment... |
ORPHA:99885 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Hypocalciuria, Enuresis, Polydipsia, Renal sodium wasting, Sensorineural hearing impairment, Salt... |
OMIM:612780 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Renal phosphate wasting, Rickets, Osteomalacia, Hepatosplenomegaly, Enamel hypomineralization, Hy... |
OMIM:307800 |
Autosomal Recessive Hypophosphatemic Rickets |
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Renal phosphate wasting, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Ric... |
ORPHA:289176 |
Whipple Disease |
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Polydipsia, Myositis, Cachexia, Anorexia, Muscle weakness |
ORPHA:3452 |
Gm2 Gangliosidosis, Ab Variant |
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Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment, Exaggerated startle... |
ORPHA:309246 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Low-set ears, Self-injurious behavior, Cupped ear, Persistence of hemoglobin F, Recurrent hand fl... |
OMIM:617101 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Joint contracture of the hand, Kyphoscoliosis, Camptodactyly of toe, Left ventricular hypertrophy... |
OMIM:300280 |
Infantile Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, Mental deterioration, Optic atrophy, ... |
ORPHA:206436 |
Hyperparathyroidism, Neonatal Severe |
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Aminoaciduria, Polydipsia, Hyperphosphaturia, Splenomegaly, Hypercalciuria, Polyuria, Anemia, Rec... |
OMIM:239200 |
Zimmermann-Laband Syndrome 2 |
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Macroglossia, Short neck, Kyphosis |
OMIM:616455 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Skeletal muscle atrophy, Cachexia, Anorexia, Scoliosis, Kyphosis |
ORPHA:1969 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Aminoaciduria, Hypoglycemia, Renal insufficiency, Anorexia, Lacticaciduria |
OMIM:619386 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Self-injurious behavior, Optic atrophy, Depression, Recurrent urinary tract infections, Joint sti... |
ORPHA:847 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyposthenuria, Hypernatriuria, Decreased serum creatinine, Irritability |
OMIM:300539 |
Leukocyte Adhesion Deficiency |
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Coronal craniosynostosis, Abnormality of neutrophil physiology, Polycythemia, Recurrent urinary t... |
ORPHA:2968 |
Charcot-Marie-Tooth Disease, Type 4C |
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Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Mental deterioration, Optic atrophy, Memory impairment, Depression, Resting tremor, Narcolepsy, H... |
ORPHA:314404 |
Leukodystrophy, Hypomyelinating, 5 |
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Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Heart Defects-Limb Shortening Syndrome |
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Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Autosomal Dominant Polycystic Kidney Disease |
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Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Platyspondyly, Kyphosis |
ORPHA:2786 |
Apparent Mineralocorticoid Excess |
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Left ventricular hypertrophy, Polydipsia, Failure to thrive |
ORPHA:320 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Adult Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, Mental deterioration, Urinary inconti... |
ORPHA:206448 |
Hereditary Orotic Aciduria |
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Aminoaciduria, Low-set, posteriorly rotated ears, Abnormality of the ureter, Oroticaciduria, Sple... |
ORPHA:30 |
Mccune-Albright Syndrome |
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Renal phosphate wasting, Aneurysmal bone cyst, Hearing impairment, Osteomalacia, Monostotic fibro... |
ORPHA:562 |
Pituitary Adenoma 4, Acth-Secreting |
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Skeletal muscle atrophy, Abnormal fear-induced behavior, Obesity, Biconcave vertebral bodies, Abd... |
OMIM:219090 |
Familial Cold Urticaria |
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