| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Foot dorsiflexor weakness, Proximal muscle weakness, Respiratory insufficien... |
OMIM:617087 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Kyphosis, Nonprogressive muscular atrophy, Distal muscle weakness, Scoliosis, Sp... |
OMIM:600175 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Increased variability in muscle ... |
OMIM:300718 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Generalized amyotrophy, Dysphagia, Myo... |
OMIM:618323 |
| Inclusion Body Myositis |
|
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness, Dysphagia |
OMIM:147421 |
| Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Muscle ... |
OMIM:616471 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis |
OMIM:611225 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Dysphagia, Skeletal muscle atrophy, Muscle weakness |
ORPHA:85162 |
| Nemaline Myopathy 7 |
|
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Gowers sign, Weakness of facial musculatur... |
OMIM:610687 |
| Myopathy, Spheroid Body |
|
Distal muscle weakness, Neck flexor weakness, Muscle weakness, Proximal muscle weakness, Dysphagi... |
OMIM:182920 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal muscle weakness, Increased variability in muscle fi... |
OMIM:619042 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration... |
ORPHA:18 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Familial Hypocalciuric Hypercalcemia |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Lipoma, C... |
ORPHA:405 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Gowers sign, Flexion contracture, Type 1 muscle... |
OMIM:609285 |
| Myopathy, Distal, 4 |
|
Proximal muscle weakness, Abnormality of the calf musculature, Muscle weakness, Distal upper limb... |
OMIM:614065 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... |
ORPHA:399058 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Kyphosis, Bulbar palsy, Gowers sign, Proximal muscle weakness in lower limbs, Lo... |
OMIM:615290 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
| Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Depression, Anxiety, Fatigable weakness, Hypercalciuria, Optic atro... |
ORPHA:428 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Kyphoscoliosis, Lower limb amyotrophy, Dysphagia, Knee flexion contracture, Upper limb amyotrophy... |
ORPHA:496689 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Proximal ... |
OMIM:613388 |
| Myopathy, Centronuclear, 2 |
|
Kyphosis, Respiratory insufficiency due to muscle weakness, Gowers sign, Flexion contracture, EMG... |
OMIM:255200 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Abnormal bone structure, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis, Flexion contracture |
OMIM:168400 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... |
OMIM:618484 |
| Vacuolar Neuromyopathy |
|
Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Neck flex... |
OMIM:601846 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Kyphosis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal m... |
ORPHA:75840 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in l... |
OMIM:618138 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Lumbar hyperlordosis, Abnormality of the shoulder girdle musculature, Thoracic scoliosis, Left ve... |
ORPHA:206546 |
| Dent Disease 1 |
|
Renal phosphate wasting, Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabec... |
OMIM:300009 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Scoliosis, Congenital muscular dystrophy, Fatty r... |
OMIM:613204 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... |
OMIM:606612 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Increased endomysial connective tissue, Spinal rigidity, Flexion contracture, Muscular dystrophy,... |
OMIM:617072 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... |
OMIM:308990 |
| Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
| Myofibrillar Myopathy 11 |
|
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... |
OMIM:619178 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Kyphosis, Diaphragmat... |
OMIM:181405 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Kyphoscoliosis, Distal muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy, Proximal mu... |
OMIM:605588 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Distal muscle weakness, Kyphosis, Skeletal muscle atrophy, Scoliosis |
ORPHA:101078 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Tempi Syndrome |
|
Polycythemia, Abnormality of the kidney, Increased hematocrit |
ORPHA:284227 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Congenital muscular ... |
OMIM:607855 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis, Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271200 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal potassium wasting, Renal magnesium wasting, Self-biting |
OMIM:618314 |
| Dent Disease |
|
Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Proximal tubulopathy, Rena... |
ORPHA:1652 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
| Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Osteomalacia, Renal insufficiency, Proteinu... |
OMIM:134600 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Recurrent urinary tract infection... |
OMIM:248190 |
| Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Renal tubular acidosis, Polyuria,... |
OMIM:248250 |
| East Syndrome |
|
Sensorineural hearing impairment, Action tremor, Renal magnesium wasting, Renal sodium wasting, E... |
ORPHA:199343 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Bethlem Myopathy |
|
Multiple joint contractures, Quadriceps muscle weakness, Achilles tendon contracture, Flexion con... |
ORPHA:610 |
| Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Lumbar hyperlordosis, Spinal rigidity, Flexion cont... |
OMIM:617114 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis, Distal upper limb amyotrophy, Distal lower limb amyotrophy |
ORPHA:101075 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Weakness of facial musculature, Increased variability in muscle fibe... |
ORPHA:536516 |
| Abcd Syndrome |
|
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... |
OMIM:600501 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Optic atrophy, Renal Fanconi syndrome, Prot... |
ORPHA:436271 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Scoliosis, Myopathy |
OMIM:618234 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Renal tubular acidosis, Osteopenia, Glycosuria, Nephropathy, Hypercal... |
ORPHA:2088 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Restrictive partial external ophthalmoplegia, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Anxiety, Gout, Increased mean corpuscular hemog... |
ORPHA:90041 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Kyphosis, Respiratory insufficiency due to muscle weakness, S... |
OMIM:254090 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Wilson Disease |
|
Glycosuria, Tremor, Proteinuria, Limb dystonia, Renal tubular dysfunction, Nephrolithiasis, Decre... |
OMIM:277900 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Kyphoscoliosis, Scoliosis, Limb muscle weakness, Dysphagia, Neck muscle weakness, Facial palsy, B... |
OMIM:614707 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Skeletal muscle atr... |
OMIM:618291 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Short n... |
ORPHA:178148 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycem... |
ORPHA:263455 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis, Ophthalmoparesis, Muscle weakness, Arthrogryposis multiplex congenita, Proxi... |
OMIM:617143 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Sensorineural hearing impairment, Recurrent fractures, Rickets, Glycosuria, Optic atrophy, Optic ... |
OMIM:268315 |
| Typical Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Kyphosis, Spinal rigidity, Flexion contracture, Increased varia... |
ORPHA:171436 |
| Glut1 Deficiency Syndrome 2 |
|
EEG abnormality, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dyston... |
OMIM:612126 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Ske... |
OMIM:618393 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting |
ORPHA:564178 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia, Interictal epileptifor... |
OMIM:618857 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigidity, Weakness of facial m... |
ORPHA:352447 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hypoglycemia, Proteinuria, Diabetes mellitus, Hyperphosphaturia, Nephr... |
OMIM:616026 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, St... |
OMIM:618913 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Distal amyotrophy |
OMIM:607831 |
| Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of foot bone, Papilledema, Polycythemia, Thrombocytosis, Lipod... |
ORPHA:2905 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis, Muscle weakness, Skeletal muscle hypertrophy |
ORPHA:99014 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Idiopathic Hypercalciuria |
|
Renal calcium wasting, Osteopenia, Calcium oxalate nephrolithiasis, Osteoporosis, Hypercalciuria |
ORPHA:2197 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:98855 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
| Fumarase Deficiency |
|
Optic atrophy, Reduced subcutaneous adipose tissue, Polycythemia, Aminoaciduria |
OMIM:606812 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Elevated circulating creat... |
OMIM:614817 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Distal muscle weakness, Scoliosis, Foot dorsiflexor weakness, Obesity, Ophthalmoplegia |
OMIM:618124 |
| Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Reduced subcutaneous adipose tissue, Osteomalacia, Glycosuria, General... |
OMIM:227810 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Hypomagnesemia 2, Renal |
|
Renal insufficiency, Chondrocalcinosis, Hypocalciuria, Renal magnesium wasting |
OMIM:154020 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... |
ORPHA:40 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Skeletal muscle atrophy |
OMIM:230650 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Sensorineural hearing impairment, Renal tubular dysfunction, Aminoaciduria, Glycosuria, Optic atr... |
OMIM:220110 |
| Familial Renal Glucosuria |
|
Renal tubular dysfunction, Recurrent urinary tract infections, Nephropathy, Glycosuria |
ORPHA:69076 |
| Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98853 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria, Irritability |
ORPHA:2089 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Anemia, Throm... |
ORPHA:848 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness... |
OMIM:607155 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hypophosphatemic rickets, Chronic kidney disease, Bicarbonate-wasting re... |
ORPHA:3337 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
| Myofibrillar Myopathy 10 |
|
Kyphosis, Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrop... |
OMIM:619040 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Richieri Costa-Da Silva Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Skeletal muscle hypertrophy, Asymmetric limb muscle ... |
ORPHA:3101 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Intention tremor, Increased level of L-pyroglutamic acid in urine, Neutropenia |
OMIM:266130 |
| Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Kyphoscolios... |
ORPHA:597 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Elevated hemoglobin A1c, Abn... |
ORPHA:552 |
| Sandhoff Disease |
|
Kyphosis, Failure to thrive, Muscle weakness |
ORPHA:796 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Proximal muscle weakness, Weak... |
ORPHA:1145 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis, Congenital foot contractures, Distal amyotrophy |
ORPHA:3454 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Proteinuria, Arthrogryposis multi... |
OMIM:613404 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Aminoaciduria, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Brachyolmia Type 1, Hobaek Type |
|
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Decreased body weight, Small for gestational age |
OMIM:618392 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Kyphoscoliosis, Muscular dystrophy, Progressive distal muscular atrophy, Obesity, Distal lower li... |
ORPHA:459033 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive, Facial myokymia |
OMIM:620007 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Kyphoscoliosis, First dorsal interossei muscle weakness, Distal mu... |
OMIM:619574 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Hemolytic anemia, Renal insufficiency, Emotional lability, Reticu... |
OMIM:300653 |
| Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Generalized aminoaciduria, Splenomegaly |
ORPHA:882 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Generalized limb muscle atrophy, Kyphosis, Scoliosis, Myopathy |
ORPHA:2598 |
| Marinesco-Sjogren Syndrome |
|
Kyphosis, Failure to thrive, Flexion contracture, Rimmed vacuoles, Scoliosis, Progressive muscle ... |
OMIM:248800 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Aminoaciduria |
ORPHA:33574 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Kyphosis, Short neck, Scoliosis, Arthrogryposis multiplex congenita, Skeletal mu... |
OMIM:611890 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Scoliosis,... |
OMIM:609813 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Diaphragmatic weakness, Hand muscle atrophy, Scoliosis, Dysphagia, Proximal muscle weak... |
OMIM:211530 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
EEG abnormality, Aminoaciduria, Hearing impairment, Anemia, Thrombocytopenia |
OMIM:614946 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Tremor, Dystonia |
OMIM:613280 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age |
ORPHA:85288 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Kyphosis, Spinal rigidity, Progressive external ophthalmoplegia, Facial palsy, Generalized amyotr... |
OMIM:615084 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Kyphosis, Failure to thrive, Flexion contracture |
OMIM:618237 |
| Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Cognitive impairment, Hemolytic anemia, Microcytic anemia, Ane... |
ORPHA:846 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Nephrolithiasis, Osteopenia, Osteoporosis, Hypercalciuria, Increased sus... |
OMIM:612286 |
| Renal Glucosuria |
|
Polyuria, Glycosuria, Enuresis nocturna |
OMIM:233100 |
| Livedoid Vasculopathy |
|
Leukocytosis, Polycythemia, Abnormality of the peripheral nervous system, Atrophic scars, Pancyto... |
ORPHA:542643 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Proteinuria, Renal insufficiency, Acute kidney injury, Mic... |
ORPHA:54057 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
| Cataract 47 |
|
Glycosuria |
OMIM:612018 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Nep... |
ORPHA:2298 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... |
ORPHA:320401 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy, Kyphosis |
ORPHA:1875 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter, Congenital m... |
OMIM:616470 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis, Aminoaciduria |
OMIM:204730 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Galactosemia Iii |
|
Sensorineural hearing impairment, Aminoaciduria, Galactosuria, Splenomegaly |
OMIM:230350 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Leukopenia, Polyuria, Hyperechogenic kidneys, Proteinuria, Diabetes melli... |
OMIM:613845 |
| Myasthenia Gravis |
|
Rheumatoid arthritis, Glycosuria, Hemolytic anemia, Pure red cell aplasia, Hearing impairment |
ORPHA:589 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Distal renal tubular aci... |
OMIM:611590 |
| Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Nephrolithiasis, Osteopenia, Osteoporosis, Increased susceptibility to f... |
OMIM:612287 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossifi... |
OMIM:300554 |
| Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Aminoaciduria, Reduced bone mineral density, Hyperuricosuria, Glycosuria, Global... |
ORPHA:47159 |
| Gitelman Syndrome |
|
Chondrocalcinosis, Polyuria, Hypocalciuria, Nocturia, Renal potassium wasting, Enuresis, Renal ma... |
OMIM:263800 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Upper limb hypertonia |
ORPHA:319199 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Reticulocytosis, Op... |
OMIM:611490 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Aminoaciduria, Splenomegaly |
ORPHA:417 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Glycosuria |
OMIM:606824 |
| Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Aminoaciduria, Cognitive impairment, Glycosuria, Low-molecular-weight ... |
ORPHA:411629 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
| Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Conductive hearing impairment, Thin bony cortex, Pathologic fracture, Osteolysis |
OMIM:174810 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Renal cortical cysts, Glycosuria, Hypoglycemia, Generalized aminoacidu... |
OMIM:231680 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Renal tubular dysfunction, Glucose intolerance, Elevated hemoglobin A1c, Glycosuria, Tremor, Irri... |
OMIM:616539 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Reduced bone mi... |
ORPHA:231222 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Hemoglobinuria, Leukopenia, Reticulocytosis, Glycosuria, Abnormal erythro... |
ORPHA:447 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Facial diplegia, Sensorineural hearing impairment, Aminoaciduria, Methylmalonic aciduria, Athetos... |
OMIM:612073 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity, Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Macroglossia, Scoliosis, Dysphagia, Achalasia |
ORPHA:79107 |
| Hypophosphatasia, Infantile |
|
Craniosynostosis, Decreased calvarial ossification, Phosphoethanolaminuria, Hypercalciuria, Nephr... |
OMIM:241500 |
| Cranioectodermal Dysplasia 1 |
|
Protruding ear, Chronic kidney disease, Inguinal hernia, Stage 1 chronic kidney disease, Osteopor... |
OMIM:218330 |
| Dent Disease 2 |
|
Chronic kidney disease, Aminoaciduria, Cognitive impairment, Low-molecular-weight proteinuria, Hy... |
OMIM:300555 |
| Dermotrichic Syndrome |
|
EEG abnormality, Aminoaciduria, Macrotia, Anemia, Aganglionic megacolon |
ORPHA:99688 |
| Cystinuria |
|
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... |
OMIM:220100 |
| Cystinosis, Nephropathic |
|
Nephrolithiasis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Aminoaciduria, Splenomegal... |
OMIM:219800 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Iron deficiency anemia, Tooth abscess, Hyperphosphaturia, Rickets |
ORPHA:89937 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Sensorineural hearing impairment, Narcolepsy, Resting tremor, Depression, Mental deterioration, H... |
ORPHA:314404 |
| Stiff-Person Syndrome |
|
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Diabetes mellitus, ... |
OMIM:184850 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture of finger, Weakness of facial musculature, Fatigable weakness of bulbar muscl... |
ORPHA:2020 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Abnormal renal tubular resorption, Hypercalciuria, Hypermagnesiuria, Neph... |
ORPHA:73224 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Knee flexion contracture |
OMIM:313420 |
| Sialidosis Type 2 |
|
Kyphosis, Skeletal muscle atrophy, Muscle weakness, Flexion contracture |
ORPHA:87876 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Flexion contracture, Anisocytosis, Camptodactyly, Renal hypoplasia, 3-Methylglutac... |
OMIM:604273 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Osteomalacia, Rickets |
OMIM:193100 |
| Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Weight loss |
ORPHA:178029 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Sideroblastic anemia, Aminoaciduria, Optic atrophy, Diabetes me... |
OMIM:249270 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Kyphosis, Scoliosis |
ORPHA:276630 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Harderoporphyria |
|
Splenomegaly, Increased urinary porphobilinogen, Hemolytic anemia, Increased urine harderoporphyr... |
OMIM:618892 |
| Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Hydronephrosis, Iron deficiency anemia |
ORPHA:100076 |
| Mcdonough Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Cachexia |
ORPHA:2471 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Sensorineural hearing impairment, Narcolepsy, Depression, Memory impairment, Optic atrophy, Dementia |
OMIM:604121 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis |
OMIM:614409 |
| Cystinosis |
|
Failure to thrive, Polydipsia, Muscle weakness, Myopathy |
ORPHA:213 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cervical spinal canal stenosis, Scoliosis, Obesity, Scheuermann-like vertebral changes |
OMIM:301900 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Action tremor, Flexion contracture, Abnormal autonomic nervous ... |
ORPHA:99027 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis, Bilateral sensorineural... |
OMIM:602722 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamines, Papilledema, Polycythemia, Anxiety, Multiple renal cysts, Renal ... |
ORPHA:892 |
| Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Glycosuria, Impaired glucose tolerance, Diabetes me... |
OMIM:617253 |
| Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia, Exercise-induce... |
OMIM:232800 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Micropenis, Craniosynostosis, Osteopenia, Hypospadias, Hypercalciuria, Low-set ears |
OMIM:614732 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Kyphosis, Scoliosis, Hyperlordosis, Dysphagia, Facial p... |
OMIM:128100 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Glycosuria, Abnormal urine potass... |
ORPHA:411634 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, Hearing impairment, Aminoaciduria, Irritability |
OMIM:609560 |
| Cdkl5-Deficiency Disorder |
|
Kyphosis, Poor head control, Scoliosis |
ORPHA:505652 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis, Muscle weakness |
ORPHA:85317 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Camptodactyly of finger, Acute rhabdomyolysis, Scoliosis, Abnormality of the cervical s... |
ORPHA:48431 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Chondrocalcinosis, Hypercalciuria, Generalized osteoporosis, Renal insufficiency, Hyp... |
ORPHA:99879 |
| Stimmler Syndrome |
|
Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology |
ORPHA:3199 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Splenomegaly |
ORPHA:79238 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossifi... |
OMIM:241530 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Myoglobinuria, Hemolytic anemia, Tremor, Renal insufficiency,... |
ORPHA:713 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Mental deter... |
ORPHA:206443 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Head ti... |
ORPHA:3240 |
| Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Glucose intolerance, Unilateral renal agenesis, Maturity-onset diabetes of the y... |
OMIM:137920 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Joint contracture of the hand, Small for gestational age, Scoliosis, Joint contracture ... |
ORPHA:352490 |
| Schaaf-Yang Syndrome |
|
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Polyphagia, Arthrogryposis multiplex con... |
OMIM:615547 |
| Von Hippel-Lindau Syndrome |
|
Sensorineural hearing impairment, Polycythemia, Multiple renal cysts, Tinnitus, Renal cell carcinoma |
OMIM:193300 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Obesity, Truncal obesity |
OMIM:615986 |
| Sialidosis Type 1 |
|
Sensorineural hearing impairment, EEG abnormality, Decreased nerve conduction velocity, Aminoacid... |
ORPHA:812 |
| Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
| Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hepatosple... |
ORPHA:84081 |
| Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Polycythemia, Hypoglycemia, Thrombocytosis, Emotional lability, Anemia... |
ORPHA:88673 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Elevated circulating creatinine concentration |
ORPHA:79126 |
| Dicarboxylic Aminoaciduria |
|
Nephrolithiasis, Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria |
OMIM:222730 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Kyphosis, Flexion contracture, Weakness of facial musculature, Distal muscle wea... |
OMIM:301041 |
| Lead Poisoning |
|
Renal tubular dysfunction, Chronic kidney disease, Cognitive impairment, Depression, Abnormality ... |
ORPHA:330015 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis, Truncal obesity |
ORPHA:2429 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Scarring, Anemia, Abnormality of peripheral nerve conduction... |
ORPHA:90321 |
| Lopes-Maciel-Rodan Syndrome |
|
Dysphagia, Kyphosis, Scoliosis |
OMIM:617435 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
| Flynn-Aird Syndrome |
|
Cachexia, Kyphosis, Skeletal muscle atrophy, Scoliosis |
ORPHA:2047 |
| Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly |
OMIM:237800 |
| Beckwith-Wiedemann Syndrome |
|
Posterior helix pit, Enlarged kidney, Umbilical hernia, Omphalocele, Nephrolithiasis, Otosclerosi... |
ORPHA:116 |
| Bruck Syndrome 1 |
|
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Elbow flexion contracture, Knee flexion cont... |
OMIM:259450 |
| Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Schistocytosis, Tremor, Elevated circulating creatinine concentration,... |
OMIM:274150 |
| Niemann-Pick Disease Type C |
|
Narcolepsy, Apathy, Dementia, Axial dystonia, Splenomegaly, Depression, Mental deterioration, Hep... |
ORPHA:646 |
| Wieacker-Wolff Syndrome |
|
Kyphosis, Congenital foot contractures, Short neck, Scoliosis, Camptodactyly, Distal amyotrophy, ... |
OMIM:314580 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Ketonuria, Lower-limb joint contracture, Abnormality of the upper urin... |
ORPHA:99885 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Polydipsia, Muscle weakness |
ORPHA:251274 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis, Arthrogryposis multiplex congenita, Small for gestational age |
OMIM:615834 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Refrac... |
OMIM:231095 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Hypophosphatemic rickets, Reduced bone mineral density, Hyperphosphaturia, Osteo... |
ORPHA:157215 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Ogden Syndrome |
|
Torticollis, Protruding ear, Global glomerulosclerosis, Inguinal hernia, Polycythemia, Maternal d... |
OMIM:300855 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Aminoaciduria, Decreased glomerular filtration rate, Papilledema, No... |
ORPHA:91500 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Pearson Syndrome |
|
Neutropenia, Lacticaciduria, Splenomegaly, Anemia, Reticulocytosis, Glycosuria, Renal cyst, Hypop... |
ORPHA:699 |
| Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting |
OMIM:241519 |
| Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, Failure to thrive, Platyspondyly, Scoliosis |
OMIM:234250 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Sensorineural hearing impairment, Recurrent fractures, Hydroxyprolinuria, Increased urine deoxypy... |
OMIM:239000 |
| Ck Syndrome |
|
Slender build, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
| Metatropic Dysplasia |
|
Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Platyspondyly, Scoliosis, ... |
OMIM:156530 |
| Metatropic Dysplasia |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Abnormal form of the vertebral bodies, Abnormal int... |
ORPHA:2635 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Recurrent fractures, Flexion contracture of finger, Joint contracture of the han... |
OMIM:193700 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Galactosemia I |
|
Increased level of galactitol in urine, Aminoaciduria, Hemolytic anemia, Galactosuria, Albuminuria |
OMIM:230400 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Hypospadias, Low-set, posteriorly rotated ears, Microcytic anemia, HbH hemog... |
ORPHA:98791 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... |
OMIM:201050 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Joint contracture of the hand, Skeletal muscle hypertrophy, Camptodactyly of toe, Scoli... |
OMIM:300280 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... |
ORPHA:101085 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Irritability, Splenomegaly, Extramedullary hematopoiesis, Anis... |
ORPHA:231226 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Limb dystonia, Athetosis |
ORPHA:621 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Upper limb hypertonia, Lower limb hypertonia |
OMIM:614898 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis |
OMIM:616963 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Hemoglobinuria, Poikilocytosis, Fava bean... |
OMIM:300908 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Depressio... |
OMIM:600740 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Recurrent fractures, Monostotic fibrous dysplasia, Inappropriate sexual ... |
ORPHA:562 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Macrothrombocytopenia, Proteinuria, Neutropenia, Thrombocytopenia |
OMIM:603585 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Joint stiffness, Abnormal hemoglobin, Self-injurious behavior, ... |
ORPHA:847 |
| Leukocyte Adhesion Deficiency |
|
Osteomyelitis, Hyperinsulinemic hypoglycemia, Leukocytosis, Coronal craniosynostosis, Polycythemi... |
ORPHA:2968 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Sensorineural hearing imp... |
ORPHA:289176 |
| Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety, Diabetes mellitus |
ORPHA:3198 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Irritability, Splenomegaly, E... |
ORPHA:231214 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Hip contracture, Abnormal pinna morphology, Ivory epiphyses of ... |
OMIM:216400 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Polycythemia, Action tremor, Dystonia, Splenomegaly |
ORPHA:309854 |
| Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck, Macroglossia |
OMIM:616455 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Progress... |
ORPHA:909 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Aminoaciduria, Umbilical hernia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:614520 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
| Shashi-Pena Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617190 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Reduced subcutaneous adipose tissue, Abnormal pinna morphology,... |
OMIM:133540 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
| Adult Krabbe Disease |
|
EEG abnormality, Mental deterioration, Progressive neurologic deterioration, Prolonged brainstem ... |
ORPHA:206448 |
| Atypical Werner Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Increased bone mineral density, Renal neoplasm, Redu... |
ORPHA:79474 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Aminoaciduria |
OMIM:250620 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis, Flexion contracture, Distal amyotrophy |
OMIM:609541 |
| Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia, Muscle weakness |
ORPHA:403 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Irritability, Inappropriate crying, Mental deterioration, Op... |
ORPHA:206436 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Progressive neurologic deterioration, Proximal tubulopathy |
OMIM:612075 |
| Becker Nevus Syndrome |
|
Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle muscle atrophy |
ORPHA:64755 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dysphagia, Kyphosis, Limb hypertonia |
ORPHA:500180 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Osteoarthritis, Ost... |
OMIM:307800 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
| Gracile Syndrome |
|
Aminoaciduria |
OMIM:603358 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
| Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
| Hereditary Orotic Aciduria |
|
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Low-set, posteriorly rota... |
ORPHA:30 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Cognitive impairment, Schistocytosis, Elevated circulating creatinine concentration, Acute kidney... |
OMIM:235400 |
| Hypophosphatemic Rickets |
|
Renal phosphate wasting, Joint stiffness, Fibrous dysplasia of the bones, Periapical tooth absces... |
ORPHA:437 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Aminoaciduria, Splenomegaly |
ORPHA:664 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Irritability, Thin ... |
OMIM:264700 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Low-set ears, Renal tubular acidosis, Renal tubular atrophy, Aminoaciduria, Reduced renal cortico... |
OMIM:208085 |
| X-Linked Hypophosphatemia |
|
Sensorineural hearing impairment, Renal phosphate wasting, Cellulitis, Craniosynostosis, Reduced ... |
ORPHA:89936 |
| Pelger-Huet Anomaly |
|
Kyphosis, Failure to thrive, Foot dorsiflexor weakness, Lower limb hypertonia |
OMIM:169400 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Persistence of hemoglobin F, Pancytopenia, Anemia, Thrombocytopenia, Nephrocalcinosi... |
OMIM:260400 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
EEG abnormality, Osteopenia, Ureteral stenosis, Osteoporosis, Hypercalciuria, Renal cyst, Low-set... |
OMIM:615398 |
| Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy, Polydipsia, Failure to thrive |
ORPHA:320 |
| Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
| Congenital Erythropoietic Porphyria |
|
Splenomegaly, Osteopenia, Anisocytosis, Leukopenia, Increased urinary porphobilinogen, Osteoporos... |
ORPHA:79277 |
| Whipple Disease |
|
Cachexia, Polydipsia, Muscle weakness, Myositis |
ORPHA:3452 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Sensorineural hearing impairment, Intention tremor, Polyuria, Hypocalciuria, Renal sodium wasting... |
OMIM:612780 |
| Crisponi Syndrome |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Flexion contracture |
ORPHA:1545 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis, Ophthalmoparesis, Lower limb muscle weakness, Skeletal muscle atrophy |
ORPHA:88644 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
| Red Cell Phospholipid Defect With Hemolysis |
|
