Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... |
OMIM:618883 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:203330 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... |
OMIM:271150 |
Spastic Paraplegia Type 7 |
|
Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Optic atrophy, Abnormal... |
ORPHA:99013 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Limb-girdle muscle we... |
ORPHA:352470 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Exercise intolerance, Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ra... |
ORPHA:457050 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Mitochondrial Myopathy With Diabetes |
|
Exercise intolerance, Ataxia, Facial palsy, Ragged-red muscle fibers, Decreased activity of mitoc... |
OMIM:500002 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... |
OMIM:254110 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Sensorineural hearing impa... |
OMIM:619518 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... |
OMIM:617760 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Exercise intolerance, Facial palsy, Decreased activity of mitochondrial complex IV, Ragged-red mu... |
OMIM:616209 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... |
OMIM:618129 |
Tuberculosis |
|
Fatigue, Weight loss |
ORPHA:3389 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Abdominal pain, ... |
ORPHA:86812 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske... |
OMIM:619733 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc... |
OMIM:608358 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Increas... |
OMIM:611705 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-... |
OMIM:616228 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin... |
OMIM:158600 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Frontotemporal dementia, Abnormal mitochondrial morpholog... |
ORPHA:275872 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hearing impairment, Centrally nucleate... |
OMIM:301075 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:603233 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Spinal muscular atrophy, Hyperlordosis, Sc... |
OMIM:611067 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Mitochondrial ... |
OMIM:500013 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Dystonia, Abnormal anterior horn cell morphology, Short neck, Paucity of... |
OMIM:611890 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Cryptorchi... |
OMIM:618484 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Centrally nucleated skeletal mus... |
OMIM:619542 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Myofibrillar Myopathy 11 |
|
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hy... |
OMIM:619178 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Centrally nucleated skeletal muscle fibers, Chorea, Optic atrophy, Cardio... |
ORPHA:401768 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Posteriorly rotated ears, Decreased act... |
OMIM:618378 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal rigidit... |
OMIM:608423 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:602771 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Inability t... |
OMIM:617066 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:255160 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Le... |
OMIM:160500 |
Nonaka Myopathy |
|
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... |
OMIM:605820 |
Hsd10 Mitochondrial Disease |
|
Progressive neurologic deterioration, Sensorineural hearing impairment, Optic atrophy, Abnormal m... |
OMIM:300438 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Distal amyotro... |
OMIM:607641 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Gastrocnemius myalgia, Tremor, Inability to walk, Ragged... |
ORPHA:276435 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Decreased activity of mitochondrial ATP synthase complex, Loss of ability to walk in early childh... |
OMIM:609560 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Fiber type grouping, Distal sensory impairment, Distal amyotrophy, Hearing impairment |
OMIM:614369 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy, Spastic gait, Gait imbalance |
ORPHA:247604 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperl... |
OMIM:255200 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis |
ORPHA:111 |
Mantle Cell Lymphoma |
|
Fatigue, Weight loss |
ORPHA:52416 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... |
OMIM:167320 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Inability to walk, Gait disturbance, Scoliosis, Joint contract... |
OMIM:611225 |
Sandhoff Disease, Adult Form |
|
Tremor, Mental deterioration, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness i... |
ORPHA:309169 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle f... |
OMIM:620235 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Fatty replacement of skeletal muscle... |
ORPHA:52430 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Impaired temperature sensation, Impai... |
OMIM:619574 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... |
ORPHA:94090 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Cryptor... |
ORPHA:486815 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Exercise intolerance, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, D... |
OMIM:619024 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy... |
ORPHA:603 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Welander Distal Myopathy |
|
Distal amyotrophy, Steppage gait, Rimmed vacuoles |
OMIM:604454 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Distal sensory impairment, Sco... |
OMIM:617087 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... |
ORPHA:101075 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, High-frequency sensorineural hearing impai... |
ORPHA:2590 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... |
OMIM:606070 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Ragged-red muscle fibers, Decreased activity of mitochondrial complex ... |
OMIM:615159 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:255310 |
Congenital Myopathy 22A, Classic |
|
Fatigue, Hip contracture, Scapular winging, Thoracic scoliosis, Waddling gait, Centrally nucleate... |
OMIM:620351 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion co... |
OMIM:248800 |
Pulmonary Blastoma |
|
Chest pain, Weight loss |
ORPHA:64741 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscula... |
OMIM:602541 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr... |
OMIM:620246 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... |
DECIPHER:29 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Exercise Intolerance, Riboflavin-Responsive |
|
Exercise intolerance, Ragged-red muscle fibers |
OMIM:616839 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... |
OMIM:620068 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Abdominal pain, Decreased activity of mitochondrial complex IV, Ragged-red musc... |
OMIM:613662 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Optic atrophy, Myopathy, Irritability, Dystonia, Decreased activit... |
OMIM:618237 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... |
ORPHA:95434 |
Myopathy, Centronuclear, 4 |
|
Exercise intolerance, Myalgia, Type 1 muscle fiber predominance, Centrally nucleated skeletal mus... |
OMIM:614807 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Di... |
OMIM:608099 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Card... |
OMIM:612999 |
Undifferentiated Pleomorphic Sarcoma |
|
Fatigue, Weight loss |
ORPHA:2023 |
X-Linked Centronuclear Myopathy |
|
Pneumonia, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability ... |
ORPHA:596 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, ... |
ORPHA:169186 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Tremor, Myopathy, Arth... |
ORPHA:397744 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... |
OMIM:613954 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Exercise intolerance, Neuropathic spinal arthropathy, Decreased mitochondrial number, Spinal rigi... |
ORPHA:352447 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Ky... |
ORPHA:101078 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl... |
ORPHA:169189 |
Merrf |
|
Ataxia, Sensorineural hearing impairment, Ragged-red muscle fibers, Optic atrophy, Myopathy, Cogn... |
ORPHA:551 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadricep... |
OMIM:620389 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atro... |
OMIM:252011 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers... |
OMIM:300816 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-g... |
OMIM:616812 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Dystonia, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, A... |
ORPHA:330050 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Frontotemporal dem... |
OMIM:615422 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration p... |
OMIM:619477 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Myopathy, Myofibrillar, 5 |
|
Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... |
OMIM:609524 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Urinary incontinence, Opisthotonus, Spasticity of f... |
OMIM:205100 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Barth Syndrome |
|
Fatigue, Exercise intolerance, Macrotia, Dilated cardiomyopathy, Abnormal mitochondrial morpholog... |
OMIM:302060 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Myasthenic Syndrome, Congenital, 17 |
|
Difficulty walking, Type 1 muscle fiber predominance |
OMIM:616304 |
Muscle Filaminopathy |
|
Back pain, Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory mus... |
ORPHA:171445 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Increased mitochondrial number, Tremor, Dysmetria, Decreased activity of... |
OMIM:615578 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Failure to thrive in infancy, Decreased activity of mitochondrial complex IV, Increased i... |
OMIM:619065 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... |
OMIM:612462 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Fa... |
OMIM:609285 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... |
OMIM:300696 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Dilated cardiomyopathy... |
OMIM:300718 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Spinal muscular atrophy, Hype... |
OMIM:615290 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... |
OMIM:253400 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Exercise intolerance, Scapular winging, Ataxia, Facial palsy, Hearing impairment, Hand muscle wea... |
ORPHA:254886 |
Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... |
ORPHA:79445 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S... |
ORPHA:266 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Fatigue, Abdominal pain, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers... |
OMIM:616794 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Ragged-red muscle fibers, Myopathy, Difficulty walking, Decreased activity of mitochondri... |
OMIM:618242 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos... |
OMIM:617994 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired vibratory sensation,... |
ORPHA:3115 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... |
ORPHA:178400 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Urinary incontinence, Progressive neurologic deterioration, Fatty replacement of skele... |
ORPHA:329478 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S... |
OMIM:617072 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... |
OMIM:258450 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Achilles tendon co... |
OMIM:617258 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
OMIM:620386 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Shoulder pain, Kyphoscoliosis... |
ORPHA:101081 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordosis, Intrinsic ha... |
OMIM:620285 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Myalgia, Muscle fiber cytoplasmat... |
OMIM:609200 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Spinocerebellar Ataxia 28 |
|
Somatic sensory dysfunction, Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Lower limb hyper... |
OMIM:610246 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Macroglossia, Gait disturbance... |
ORPHA:412217 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Decreased compound muscle action potential amplitude, Flexion contra... |
OMIM:603511 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... |
ORPHA:36913 |
Calciphylaxis |
|
Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi... |
ORPHA:598 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Urinary incontinence, Chorea, Upper-limb joint contracture, Opisthotonus... |
ORPHA:300605 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Distal sensory impairment, C... |
ORPHA:399086 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdo... |
OMIM:620138 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac... |
OMIM:253700 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy... |
OMIM:608340 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Optic atrophy, Skeletal muscle hypertrophy, Ga... |
ORPHA:99014 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Exercise intolerance, Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ra... |
OMIM:615084 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Sensorineural hearing impairment, In... |
OMIM:619473 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability i... |
OMIM:253601 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Upper limb postural tremor, Decreased activity of mitochondrial complex IV, Ragged-red muscle fib... |
ORPHA:477774 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Flexion contracture, Scoliosis, Loss of ambulation, Increased variability in mus... |
OMIM:300717 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... |
OMIM:619566 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Ataxia, Inability to walk, Type 1 muscle fiber predominance, Dystonia, F... |
OMIM:618276 |
Huntington Disease-Like 2 |
|
Chorea, Weight loss, Dementia, Gait disturbance, Dystonia, Memory impairment |
ORPHA:98934 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... |
OMIM:103580 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Urinary incontinence, Kyphosis, Impaired vibration sensation in the... |
OMIM:614409 |
Zebra Body Myopathy |
|
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle... |
ORPHA:97240 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Broad-based... |
ORPHA:353 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:98855 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Exercise intolerance, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, D... |
OMIM:613561 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Idiopathic Achalasia |
|
Chest pain, Weight loss |
ORPHA:930 |
Primary Lateral Sclerosis, Juvenile |
|
Decreased compound muscle action potential amplitude, Spasticity of facial muscles, Abnormal uppe... |
OMIM:606353 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Short neck, Kyphosis, Spinal rigidity, Flexion con... |
ORPHA:75840 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Ragged-red muscle fiber... |
OMIM:616924 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni... |
ORPHA:2323 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Dilated cardiomyopathy, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, I... |
OMIM:612937 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Childhood-Onset Nemaline Myopathy |
|
Exercise intolerance, Waddling gait, Scapular winging, Spinal rigidity, Flexion contracture, Incr... |
ORPHA:171439 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Boucher-Neuhauser Syndrome |
|
Ataxia, Gait ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Intention tremor |
OMIM:215470 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Ataxia, Eczema, Kyphosis, Attention deficit hyperactivity disorder, Facial myokymia, Failure to t... |
OMIM:620007 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Senso... |
OMIM:616756 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle fiber predominance, Scoli... |
OMIM:619042 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Dilated cardiomyopathy, Centrally nucleated skel... |
OMIM:615959 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Gait disturbance, Type 1... |
ORPHA:424107 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... |
ORPHA:98863 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Urinary incontinence, Dist... |
OMIM:602099 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Inability to walk, Dilated ... |
ORPHA:206546 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... |
OMIM:606612 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:98853 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Adiposis Dolorosa |
|
Fatigue, Arthralgia, Chronic pain, Obesity |
OMIM:103200 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Sensorineural hearing impairment, Ragged-red muscle fibers, Ataxia |
OMIM:545000 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Failure to thrive, Ankle flexion contracture, Decreased nerve conduction velocit... |
ORPHA:319514 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Proximal amyotrophy, Tip-toe gait, Gait disturbance, Sc... |
OMIM:617404 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... |
OMIM:605637 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... |
OMIM:616471 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Dilated cardiomyopathy, Limb muscle ... |
OMIM:161800 |
Chronic Hiccup |
|
Recurrent singultus, Weight loss |
ORPHA:396 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... |
OMIM:254130 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Exercise intolerance, Facial palsy, Sensorineural hearing impairment, Ragged-red muscle fibers, E... |
OMIM:609283 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... |
OMIM:618323 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Short attention span, Abnormal mitochondrial shape, Sensorineural hearin... |
ORPHA:17 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... |
ORPHA:263297 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb... |
ORPHA:353327 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Spondyloli... |
ORPHA:270 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m... |
OMIM:619903 |
Distal Myotilinopathy |
|
Multiple joint contractures, Loss of ability to walk in first decade, Cardiomyopathy, Distal amyo... |
ORPHA:98911 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Exercise-induced myalgia, Scol... |
OMIM:618416 |
Laryngeal Neuroendocrine Tumor |
|
Chronic fatigue, Weight loss |
ORPHA:100083 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Fatigue, Exercise intolerance, Ataxia, Sensorineural hearing impairment, Ragged-red muscle fibers... |
ORPHA:1349 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616437 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:105550 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture, Urinary incontinence, Scoliosis |
OMIM:607225 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Urinary incontinenc... |
OMIM:617114 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short attention span, Motor neuron atrophy, Frontotemporal dementia, Dementia, Falls, Spinocerebe... |
ORPHA:412066 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Cachexia, Abdominal pain, Senso... |
ORPHA:298 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Exercise intolerance, Skeletal muscle atrophy, Broad-based gait, Ataxia, Ragged-red muscle fibers... |
OMIM:616479 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Progressive neurologic deterioration, Cachexia, Decreased activity of mitochondrial complex IV, W... |
OMIM:612075 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy, Decreased testicular size, Gait disturbance |
ORPHA:1875 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Urinary incontinence, Cachexia, Tremor, Chorea, Dysmetria, Depression, Gait ataxia, Irrit... |
OMIM:618093 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... |
OMIM:613204 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial... |
OMIM:614096 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy,... |
ORPHA:157973 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Achilles tendon contracture, Ragged-red m... |
OMIM:615418 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Ataxia, Tremor, O... |
OMIM:614298 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Kyphosis, Impaired proprioception, Upper limb hypertonia, Limb dyst... |
ORPHA:319199 |
Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Urinary incontinence, Distal sensory impairment, Gait disturbance, Pares... |
OMIM:263570 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Fatigue, Exercise intolerance, Failure to thrive, Abnormal heart morphology, Exercise-induced mya... |
OMIM:618250 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Sandhoff Disease |
|
Ataxia, Kyphosis, Progressive psychomotor deterioration, Motor deterioration, Failure to thrive, ... |
ORPHA:796 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Myopathy, Scoliosis, Decreased activity of mitochondrial complex I, Hypertrophic cardio... |
OMIM:618234 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Kyphosis, Sensorineural hearing impairment, Cognitive impairment, Scoliosis |
ORPHA:2744 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Euphoria, Frontal lobe dementia, Dementia, Gait disturbance, Abnormal upper... |
OMIM:221770 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Chorea, Depression, Weight loss, Irritability, Gait ataxia, Dementia, P... |
ORPHA:248111 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elev... |
ORPHA:94089 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Increased variab... |
OMIM:614399 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Huntington Disease-Like 2 |
|
Chorea, Subcortical dementia, Depression, Weight loss, Irritability, Dementia, Dystonia, Memory i... |
OMIM:606438 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Spinal rigidity,... |
OMIM:613327 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Liposarcoma |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:69078 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the in... |
OMIM:614373 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fatigue, Weight loss |
ORPHA:86893 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Noncompaction cardiomyopathy, Ataxia, Progressive psychomotor deteriorat... |
ORPHA:3208 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ataxia, Progressive intervertebral space narrowing, Ragged-red muscle fi... |
ORPHA:480 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Rhabdomyolysis, Ragged-red muscle fibe... |
OMIM:617070 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Low-set ears, Arthrogryposi... |
ORPHA:178148 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Proximal amyotrophy, Dis... |
OMIM:608627 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... |
ORPHA:171442 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Chorea, Ragged-red muscle fibers, Paroxysmal choreoathetosis, Difficulty walking, Lingual dystonia |
OMIM:500003 |
Myopathy, Distal, 3 |
|
Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Joint contrac... |
OMIM:610099 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Irregular menstru... |
OMIM:101800 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... |
ORPHA:171881 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... |
OMIM:620249 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, Low-set ... |
OMIM:618393 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Resting tremor, Urinary incontinence, Gait ataxia, Gait disturbance... |
OMIM:601162 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Short attention span, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predom... |
OMIM:619028 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... |
ORPHA:1878 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Short attention span, Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, K... |
ORPHA:459033 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Obesity, Distal sensory impairment, Sco... |
OMIM:618124 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Kyphosis, Lower limb hypertonia, Gait disturbance, Upper limb hyper... |
OMIM:614898 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... |
OMIM:254090 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction... |
OMIM:615368 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated ca... |
OMIM:607155 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Progressive h... |
ORPHA:97229 |
Pfapa Syndrome |
|
Fatigue, Abdominal pain, Arthralgia, Weight loss |
ORPHA:42642 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Abnormal circulating follicle-stimulating hormone concentration, Hyperphosphatemia, Hypocalcemic ... |
ORPHA:93325 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Dysmetria, Paresthesia, Scoliosi... |
ORPHA:48431 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Fatigue, Exercise intolerance, Ragged-red muscle fibers, Limb muscle weakness, Depression, Sensor... |
OMIM:609286 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Dystonia, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking o... |
OMIM:230650 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Failure to thrive, Abnormality of the mitochondrion |
ORPHA:91130 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gait disturbance, Proximal amyotrophy |
OMIM:608030 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl... |
OMIM:300219 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Mast Cell Sarcoma |
|
Fatigue, Weight loss |
ORPHA:66661 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Follicular Lymphoma |
|
Fatigue, Night sweats, Weight loss |
ORPHA:545 |
Central Core Disease |
|
Multiple joint contractures, Kyphoscoliosis, Mitral valve prolapse, Myopathy, Type 1 muscle fiber... |
ORPHA:597 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type... |
ORPHA:171433 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Urinary incontinence, D... |
ORPHA:464282 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Eczema, Cryptorchidism, Kyphosis, Abnormal heart morphology, Congenita... |
ORPHA:352490 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy,... |
OMIM:613157 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A... |
OMIM:253310 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Gm1 Gangliosidosis |
|
Tremor, Abnormal form of the vertebral bodies, Arthralgia, Aspiration pneumonia, Infectious encep... |
ORPHA:354 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Soma... |
OMIM:612577 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Posteriorly rotated ears, Small for gestational age, Kyphosis, Decreased body weig... |
OMIM:618392 |
Myopathy With Lactic Acidosis, Hereditary |
|
Exercise intolerance, Skeletal muscle atrophy, Abnormal iron deposition in mitochondria, Rhabdomy... |
OMIM:255125 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Dementia, Scoliosis... |
ORPHA:2047 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... |
ORPHA:99879 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Calf muscle hypertrophy, Chest pain, Muscular dystrophy, Pelvic girdle mu... |
ORPHA:263494 |
Congenital Myopathy 24 |
|
Waddling gait, Scapular winging, Facial palsy, Cardiomyopathy, Type 1 muscle fiber predominance, ... |
OMIM:617336 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Bowel incontinence, Truncal titubation, Kyphosis, Abnormal spinal cord mor... |
ORPHA:88628 |
Huntington Disease |
|
Bradyphrenia, Dystonia, Inability to walk, Chorea, Depression, Weight loss, Irritability, Gait di... |
ORPHA:399 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigue, Skeletal muscle atrophy, Ataxia, Cachexia, Cardiomegaly, Myopathy, Decreased plasma tota... |
ORPHA:42 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Short neck, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, Fl... |
ORPHA:171436 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape, Ataxia, Optic atrophy, Gait ataxia, Failure to thrive |
ORPHA:543470 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... |
OMIM:128100 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, De... |
ORPHA:276244 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... |
OMIM:615048 |
Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Cachexia, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the ... |
ORPHA:2471 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hyperlordosis, Chorea, Right ventricular dilatation, Myopathy, Limb-girdle muscula... |
ORPHA:369840 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Depression |
ORPHA:663 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Weight loss |
OMIM:191390 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Resting tremor, Facial palsy, Impaired distal prop... |
OMIM:157640 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho... |
OMIM:612089 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of mitochondrial metabolism, Weight loss, Chronic otitis media, Failure to... |
ORPHA:33355 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy, Dementia |
OMIM:205200 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... |
OMIM:607855 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Waddling gait, Left ventricular hypertrophy, Left atrial enlargement, Ky... |
OMIM:300280 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... |
ORPHA:324604 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Depression, Limb ataxia, Distal sensory impairment,... |
OMIM:617675 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Eosinophilic Fasciitis |
|
Fatigue, Myositis, Fasciitis, Weight loss, Arthritis, Arthralgia, Myalgia, Paresthesia, Muscular ... |
ORPHA:3165 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... |
OMIM:619790 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Exercise-induced... |
OMIM:160565 |
Focal Myositis |
|
Myalgia, Weight loss |
ORPHA:48918 |
Polymyositis |
|
Fatigue, Pericarditis, Abdominal pain, Abnormal muscle fiber morphology, Dilated cardiomyopathy, ... |
ORPHA:732 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Flexion contracture... |
OMIM:609541 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Distal sensory impairment, Weight loss |
ORPHA:84142 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Abnormal pinna morphology, Tremor, Kyphosis, Cryptorchidism, Gait a... |
OMIM:300354 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Myopathy, Type 1 muscle fiber predomi... |
OMIM:603034 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Gait disturbance, Progressi... |
OMIM:125250 |
Glycogen Storage Disease Ixd |
|
Exercise intolerance, Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Q... |
OMIM:300559 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Skeletal muscle atrophy, Sudden cardiac death, Achilles tendon contracture, Type 1... |
OMIM:310300 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Dilated c... |
ORPHA:70595 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Tip-toe ga... |
ORPHA:216866 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fatigue, Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hype... |
ORPHA:209335 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Fatigue, Rigors, Hyperintensi... |
ORPHA:79139 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dementia |
OMIM:105500 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Dementia |
OMIM:615515 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Exercise intolerance, Scapular winging, Hyperlordosis, Decreased activity of mitochondrial comple... |
OMIM:600462 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Atypical Juvenile Parkinsonism |
|
Fatigue, Resting tremor, Dystonia, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Scol... |
ORPHA:391411 |
Loeffler Endocarditis |
|
Fatigue, Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal ... |
ORPHA:75566 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autonomic nervous system p... |
OMIM:610743 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Frontotemporal dementia, Emotional lability |
OMIM:612069 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Idiopathic Camptocormia |
|
Myositis, Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Fatty replaceme... |
ORPHA:1320 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Ataxia, Abnormal pinna mor... |
OMIM:615471 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Progressive neurologic deterioration, Kyphosis, Protruding ear, Gait disturbance, Scoliosis |
ORPHA:85317 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Ataxia, Cachexia, Bowel incontinence, Kyphosis, Optic atrophy, Chor... |
ORPHA:702 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber dia... |
ORPHA:502423 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture, Hearing impairment |
ORPHA:87876 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Rett Syndrome |
|
Skeletal muscle atrophy, Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Trun... |
OMIM:312750 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Abnormality of the mit... |
ORPHA:254892 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Kyphosis, Obesity, Scoliosis, Macrotia, Scheuermann-like vertebral changes, Cervi... |
OMIM:301900 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Hearing impairment, Optic atrophy, Athetosis, Distal amyotrophy, Loss of ambulation, Fibe... |
OMIM:271245 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... |
OMIM:616503 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Thymic Carcinoma |
|
Fatigue, Chest pain, Weight loss |
ORPHA:99868 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... |
ORPHA:35689 |
Wilson Disease |
|
Back pain, Bone pain, Increased body weight, Hepatitis, Weight loss, Depression, Proximal muscle ... |
ORPHA:905 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness, Frontotemporal dementia |
OMIM:619141 |
Christianson Syndrome |
|
Decreased muscle mass, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Arthrogryposis multiplex ... |
ORPHA:85278 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis |
ORPHA:505652 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Decreased activity of mitochond... |
OMIM:616239 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, U... |
ORPHA:466768 |
Takayasu Arteritis |
|
Fatigue, Abnormal endocardium morphology, Increased inflammatory response, Abnormal heart valve m... |
ORPHA:3287 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter, Cryptorchidism |
OMIM:616816 |
Gerstmann-Straussler Disease |
|
Tremor, Limb ataxia, Depression, Emotional lability, Weight loss, Gait ataxia, Dementia, Truncal ... |
OMIM:137440 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Short attention span, Ataxia, Urinary inco... |
ORPHA:88644 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Myopathy, Dementia, Bilateral sensorineural hearing impairment, Left ve... |
OMIM:540000 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, A... |
OMIM:235200 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia |
OMIM:617915 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age |
ORPHA:85288 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Optic disc pallor, Abnormal mitochondrial shape, Optic atrophy |
ORPHA:485421 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Myalgia, Muscular dys... |
OMIM:123320 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Difficulty wa... |
ORPHA:119 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Cryptorchidism, Abnormal heart morphology, Camptodactyly of toe... |
OMIM:175700 |
Huntington Disease-Like 1 |
|
Chorea, Dysmetria, Depression, Weight loss, Gait ataxia, Dementia, Gait disturbance, Cognitive im... |
ORPHA:157941 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Facial palsy, Triceps weakness, Weakness of lon... |
ORPHA:98913 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia... |
OMIM:226670 |
Amyotrophic Lateral Sclerosis |
|
Fatigue, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Depression... |
ORPHA:803 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Kyphosis, Generalized limb muscle atrophy, Scoliosis |
ORPHA:2598 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Obesity, Scoliosis, Depression |
ORPHA:276630 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Gait disturbance, Truncal obesity, Scoliosis |
ORPHA:2429 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Sensorine... |
ORPHA:812 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Chills, Weight loss |
ORPHA:86884 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Gait ataxia, Dystonia, Limb hypertonia |
ORPHA:500180 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Congenital fibrosis of extraocular muscles, Kyphosis |
OMIM:609384 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Progressive sensorineural hearing impairment, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Myalgia... |
OMIM:619040 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia, Abnormal cardiac septum morphology, Abnormal fo... |
ORPHA:93941 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Myocarditis, Proximal muscle weak... |
ORPHA:206569 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Klatskin Tumor |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:99978 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Hearing impairment, Macrotia, Gait apraxia, Optic atrophy, Dysmet... |
OMIM:617302 |
Pleural Mesothelioma |
|
Constitutional symptom, Chest pain, Weight loss |
ORPHA:50251 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Cryptorchidism, Kyphosis, Flexion contracture, Inability to walk, O... |
OMIM:615547 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Amyotrophic lateral sclerosis, Athetosis, Dystonia |
OMIM:300857 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Decreased circulating parathyroid hormone level, Increas... |
ORPHA:157215 |
Classic Hodgkin Lymphoma |
|
Fatigue, Chest pain, Bone pain, Weight loss |
ORPHA:391 |
Masa Syndrome |
|
Kyphosis, Shuffling gait, Hyperlordosis |
OMIM:303350 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Sensorineural hearing impairment, Dilated card... |
OMIM:164310 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Inability to walk, Kyphosis, Obesity, Dystonia |
OMIM:619255 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Short neck, Posteriorl... |
OMIM:616801 |
Congenital Myopathy 15 |
|
Waddling gait, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diamet... |
OMIM:620161 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Fatigue, Ataxia, Cardiomegaly, Dysesthesia, Unsteady gait, Optic atrophy, Limb ataxia, Depression... |
OMIM:619259 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Hemifacial Atrophy, Progressive |
|
Ataxia, Trigeminal neuralgia, Kyphosis, Horner syndrome, Microtia |
OMIM:141300 |
Atypical Rett Syndrome |
|
Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Gait ataxia, Pill-rolling tremor, G... |
ORPHA:3095 |
Behçet Disease |
|
Myositis, Arthralgia, Infectious encephalitis, Fatigue, Ataxia, Confusion, Acne, Abdominal pain, ... |
ORPHA:117 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:617892 |
Benign Recurrent Intrahepatic Cholestasis |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:65682 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Decreased nerve conduction velocity, Sensorineural hea... |
ORPHA:1933 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... |
ORPHA:1354 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Depression, Weight loss, Blepharospasm, Lingual dystonia, Limb... |
ORPHA:93958 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:105400 |
Ck Syndrome |
|
Posteriorly rotated ears, Hyperlordosis, Kyphosis, Irritability, Scoliosis, Slender build |
OMIM:300831 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short neck, External ear malformation, Cryptorchidism, Obesity, ... |
ORPHA:251071 |
Erythrokeratodermia Variabilis |
|
Skin rash, Protruding ear, Weight loss, Abnormal testis morphology, Hearing impairment |
ORPHA:317 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morph... |
ORPHA:324964 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, F... |
ORPHA:2020 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:614808 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Delayed puberty, Type I diabetes m... |
ORPHA:213 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Fatigue, Increased inflammatory response, Myositis, Sinusitis, Skin rash, Abnormal pericardium mo... |
ORPHA:183 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Abdominal pain, Weight loss |
OMIM:266600 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Emanuel Syndrome |
|
Chronic oral candidiasis, Torticollis, Sacral dimple, Truncus arteriosus, Ventricular septal defe... |
OMIM:609029 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
ORPHA:98914 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Hirschsprung Disease |
|
Abdominal pain, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Ataxia, Tremor, Sensorineural hearing impairment, Ragged-red muscle fibers, Loss of ambu... |
OMIM:607426 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Obesity, Ab... |
ORPHA:94065 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Abdominal pain, Hypoesthesia, Sensorineural hearing impairment, Ragged-red muscle fiber... |
OMIM:603041 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Akinesia, Depression, Weight loss, Dementia, Low frustration tolerance, Shuffling... |
ORPHA:411602 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Cockayne Syndrome Type 2 |
|
Ataxia, Hearing impairment, Cryptorchidism, Kyphosis, Flexion contracture, Uveitis, Gait disturba... |
ORPHA:90322 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Hearing impairment, Kyphosis,... |
OMIM:211530 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... |
OMIM:616470 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Melas |
|
Exercise intolerance, Short attention span, Ataxia, Sensorineural hearing impairment, Ragged-red ... |
ORPHA:550 |
Pseudomyxoma Peritonei |
|
Abdominal pain, Weight loss |
ORPHA:26790 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Rheumatoid Arthritis |
|
Fatigue, Arthralgia, Weight loss |
OMIM:180300 |
Rat-Bite Fever |
|
Back pain, Lymphadenitis, Arthralgia, Morbilliform rash, Chills, Maculopapular exanthema, Parotit... |
ORPHA:31205 |
Cryptogenic Organizing Pneumonia |
|
Fatigue, Night sweats, Weight loss, Chest pain, Arthralgia |
ORPHA:1302 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Tremor, Kyphosis, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cho... |
OMIM:617988 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Unsteady gait, Scoliosis, Dystonia |
OMIM:617435 |
Non-Functioning Paraganglioma |
|
Fatigue, Pulsatile tinnitus, Tremor, Cranial nerve compression, Weight loss, Episodic abdominal p... |
ORPHA:94080 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Kyphosis |
OMIM:618512 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Frontotemporal dementia, Frontal lobe dementia, Irritability, Deme... |
OMIM:600274 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Abnormal pinna morphology, Facial palsy, Hyperlordosis, Abnormal muscle ... |
ORPHA:3068 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Kyphosis, Low-set ears, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:615834 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Kyphosis, Unsteady gait, Protruding ear, Scoliosis |
OMIM:300861 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Decreased compound muscle action potential amplitude, Osteoarthritis, Bronchiec... |
OMIM:620080 |
Perry Syndrome |
|
Akinesia, Tremor, Frontotemporal dementia, Depression, Weight loss, Dystonia, Short stepped shuff... |
OMIM:168605 |
Cap Polyposis |
|
Abdominal pain, Weight loss |
ORPHA:160148 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Cachexia, Sensorineural hearing impairment, Round ear, Macrotia, Decreas... |
ORPHA:3242 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly |
OMIM:313420 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Flexion contracture... |
ORPHA:77297 |
Lynch Syndrome |
|
Fatigue, Abdominal pain, Flexion contracture, Depression, Weight loss, Irritability, Gait disturb... |
ORPHA:144 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Posteriorly rotated ears, Facial palsy, Urinary incontinence, Short neck, Kyphos... |
OMIM:301041 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Frontotemporal dementia, Sensorineural hearing impairment,... |
OMIM:615911 |
Chronic Beryllium Disease |
|
Fatigue, Weight loss |
ORPHA:133 |
Alexander Disease Type I |
|
Cachexia, Failure to thrive, Ataxia, Scoliosis |
ORPHA:363717 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
OMIM:264700 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Whipple Disease |
|
Fatigue, Myositis, Pericarditis, Ataxia, Cachexia, Abdominal pain, Myocarditis, Uveitis, Depressi... |
ORPHA:3452 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Decreased circulating parat... |
OMIM:241530 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Alveolar Echinococcosis |
|
Fatigue, Low back pain, Ataxia, Abnormal pericardium morphology, Cholangitis, Abdominal pain, Abn... |
ORPHA:284 |
X-Linked Agammaglobulinemia |
|
Fatigue, Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Sensorineura... |
ORPHA:47 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphosis, Macrogl... |
ORPHA:583 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
Leishmaniasis |
|
Fatigue, Night sweats, Arthralgia, Weight loss |
ORPHA:507 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Torticollis, Somatic sensory dysfunction, Spinal c... |
ORPHA:370348 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Weight loss |
ORPHA:168816 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in... |
ORPHA:93314 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Inability to walk, Flexion co... |
ORPHA:258 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... |
OMIM:614924 |
Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal... |
OMIM:617321 |
Wieacker-Wolff Syndrome |
|
Dystonia, Facial palsy, Short neck, Hyperlordosis, Kyphosis, Congenital foot contractures, Distal... |
OMIM:314580 |
Familial Colorectal Cancer Type X |
|
Fatigue, Abdominal pain, Flexion contracture, Depression, Weight loss, Irritability, Gait disturb... |
ORPHA:440437 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Giant Cell Arteritis |
|
Fatigue, Pericarditis, Ataxia, Sudden cardiac death, Abdominal pain, Optic atrophy, Weight loss, ... |
ORPHA:397 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Elevated circulating parath... |
OMIM:307800 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Cystic Echinococcosis |
|
Fatigue, Abnormality of the testis size, Weight loss, Abnormal heart morphology, Membranous nephr... |
ORPHA:400 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... |
OMIM:239200 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dementia |
OMIM:617839 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... |
ORPHA:2311 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia |
ORPHA:199299 |
Native American Myopathy |
|
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Inability to ... |
ORPHA:168572 |
Arthrogryposis, Distal, Type 5 |
|
Exercise intolerance, Decreased muscle mass, Kyphosis, Protruding ear, Distal arthrogryposis, Fir... |
OMIM:108145 |
Alpha-Mannosidosis |
|
Short neck, Kyphosis, Macroglossia, Arthritis, Scoliosis, Abnormal helix morphology, Chronic otit... |
ORPHA:61 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Cryptorchidism, Kyphosis, Sensorineural hearing impairment, Obesity, Decreased tes... |
ORPHA:3085 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Abnor... |
ORPHA:85293 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Limb joint contracture, Cachexia, Hearing impairment, ... |
OMIM:618186 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Osteosarcoma |
|
Pain, Weight loss |
ORPHA:668 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Tremor, Myo... |
OMIM:619424 |
Alexander Disease |
|
Ataxia, Facial palsy, Sudden cardiac death, Bowel incontinence, Short neck, Hyperlordosis, Kyphos... |
ORPHA:58 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Tethered cord, Bicuspid aortic valve, Ventricular septal... |
OMIM:130720 |
Perry Syndrome |
|
Tremor, Depression, Dementia, Weight loss |
ORPHA:178509 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Weight loss |
ORPHA:168811 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Fatigue, Scapular winging, Pain insensitivity, Ventricular septal defect, Tremor, Kyphosis, Scoli... |
OMIM:617061 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck... |
OMIM:253000 |
Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Scoliosis, Cognitiv... |
ORPHA:1545 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Fatigue, Decreased muscle mass, Abdominal pain, Cardiomegaly, Weight loss, Cardiomyopathy, Arthri... |
ORPHA:465508 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:85447 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Optic atrophy, Perimembranous ventricular septal defect, Failure to th... |
OMIM:606812 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Cryptorchidism, Kyphosis, Abnormal fo... |
ORPHA:628 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Failure to thrive, Flexion contracture |
OMIM:620240 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Facial hypotonia, Uplifted earlobe, Cryptorchidism, Kyphosis, Macrotia, Scoli... |
ORPHA:364028 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... |
OMIM:277440 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Low-set, posteriorly rotated ears, Hip contracture, Cachexia, Short neck, Elbow flexion contractu... |
ORPHA:371364 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Semantic dementia, Memory impairment, Deposits immunoreactive to bet... |
ORPHA:1020 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen |
ORPHA:90321 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Chorea, Oromandibular dystonia, Limb dystonia, Loss of ambulation, Muscl... |
ORPHA:2388 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Flexion contracture... |
OMIM:616866 |
Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Episodic pain, Dysesthesia, Ear pain, Cranial nerve compressio... |
ORPHA:221098 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Kyphosis, Low-set ears, Attention deficit hyperactivity disorder, Macrotia, Decre... |
OMIM:615433 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Eczema, Keratoconjunctivitis, Weight loss, Irritability, Perioral eczema |
ORPHA:79242 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the earlobes... |
ORPHA:3409 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Generalized dystonia, Kyphosis, Sensorineural hearing impairment, Macroglossia, Scoliosis, Mental... |
ORPHA:79107 |
Distal Triplication 15Q |
|
Large for gestational age, Kyphosis, Sensorineural hearing impairment, Flexion contracture, Cuppe... |
ORPHA:314588 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Sensorineural hearing impairment, Kyphosis, Short neck |
OMIM:616455 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Amyotrophic lateral sclerosis |
OMIM:616208 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
Infantile Krabbe Disease |
|
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Cachexia, Progressive ... |
ORPHA:206436 |
Systemic Capillary Leak Syndrome |
|
Fatigue, Abdominal pain, Weight loss, Myalgia, Constitutional symptom |
ORPHA:188 |
Danon Disease |
|
Myocardial necrosis, Exercise intolerance, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyot... |
OMIM:300257 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Abnormal heart morp... |
ORPHA:206572 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Abnormal pinna morphology, K... |
OMIM:618291 |
Polyarteritis Nodosa |
|
Abdominal pain, Arthralgia, Myalgia, Weight loss |
ORPHA:767 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Acute pancreatitis, Chilblains, Pericardial effusion, Optic atrophy, Weight loss, I... |
OMIM:619487 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Senso... |
OMIM:252010 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:613435 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Posteriorly rotated ears, Facial palsy, Ragged-red muscle fibers, Macrotia |
OMIM:606407 |
Kaposi Sarcoma |
|
Fatigue, Weight loss |
ORPHA:33276 |
Ane Syndrome |
|
Multiple joint contractures, Kyphoscoliosis, Motor neuron atrophy, Generalized amyotrophy, Motor ... |
ORPHA:157954 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... |
ORPHA:2635 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Brucellosis |
|
Chorea, Knee osteoarthritis, Arthralgia, Chills, Infectious encephalitis, Fatigue, Abdominal pain... |
ORPHA:1304 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Eczema, Kyphosis, Lower limb hypertonia, Recurrent otitis media, Failu... |
OMIM:169400 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Fanconi Renotubular Syndrome 2 |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia |
OMIM:613388 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoli... |
ORPHA:2617 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Spina bifida, Short neck, Cryptorchid... |
ORPHA:261318 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Premature osteoart... |
OMIM:130060 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Chronic pancreatitis, Sensorineural h... |
ORPHA:98908 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Encopresis, Inability to walk, Unsteady... |
OMIM:618443 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
ORPHA:289157 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Short neck, Wrist flexion contracture, Low-set, posteriorly rotated ears... |
ORPHA:800 |
Kearns-Sayre Syndrome |
|
Ataxia, Sensorineural hearing impairment, Ragged-red muscle fibers, Cardiomyopathy, Dementia |
OMIM:530000 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Short neck, External ear malformation, Kyphosis, Cryptorchidism, Condu... |
ORPHA:254346 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Macrotia, Kyphosis, Scoliosis |
OMIM:619797 |
Idiopathic Bronchiectasis |
|
Halitosis, Chest pain, Cachexia |
ORPHA:60033 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Decreased nerve conduction velocity, Simple ear, Sensorineural hearing ... |
OMIM:618733 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Cryptorchidism, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Attention... |
ORPHA:500055 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Hip pa... |
ORPHA:94068 |
Frank-Ter Haar Syndrome |
|
Acne, Camptodactyly of finger, Kyphosis, Mitral valve prolapse, Protruding ear, Scoliosis, Beakin... |
ORPHA:137834 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Hyperlordosis, Short neck, Cryptorchidism, K... |
ORPHA:2789 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Tremor, Kyphosis, Unsteady gait, Myopathy, Cholecysti... |
OMIM:615512 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:99880 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive |
OMIM:234250 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Kyphosis, Sensorineural hearing impairment, Optic atro... |
ORPHA:3378 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Impaired vibratory sensation, Thoracic kyphoscoliosis, Decreased muscle mass, Thoracic scoliosis,... |
ORPHA:1900 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Decreased muscle mass, Failure to thrive in infancy, Cachexia,... |
ORPHA:813 |
Aggressive Systemic Mastocytosis |
|
Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Abdominal cramps, Constitutional sym... |
ORPHA:98850 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
Nephroblastoma |
|
Abdominal pain, Weight loss |
ORPHA:654 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Acne, Short neck, Kyphosis, Obesity, Membranous subvalvular ao... |
ORPHA:3191 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:143 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Kyphosis, Sensorineural hearing impairment, Joint contracture of the 5th... |
ORPHA:1883 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Rhabdoid Tumor |
|
Abdominal pain, Weight loss |
ORPHA:69077 |
Mucolipidosis Type Ii |
|
Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Kyphosis, Inability to walk, ... |
ORPHA:576 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chest pain, Asthenia, Weight loss |
ORPHA:411703 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Generalized dystonia, Urinary incontinence, Bowel incontinence, Kyphosis, Optic atrophy, Dysmetri... |
ORPHA:171629 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Memory impairment, Amyotrophic lateral sclerosis, Limb muscle weakness, Frontotemporal dementia |
OMIM:619133 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Dextrocardia, Short neck, Cryptorchidism, Kyphosis, Congenital contracture... |
OMIM:248700 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Rhizomelic Syndrome, Urbach Type |
|
Acne, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Cognitive impairment, Pulmonic... |
ORPHA:3098 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Oculogyric crisis, Akinesia, Kyphosis, Depression, Paresthesia, Tre... |
ORPHA:97349 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
Bone Dysplasia, Lethal Holmgren Type |
|
Short neck, Weight loss, Atrial septal defect, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:1842 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... |
ORPHA:582 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Night sweats, Weight loss, Salmonella osteomyelitis |
OMIM:209950 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fatigue, Weight loss |
ORPHA:3226 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Abdominal pain, Spinal cord compression, Bone pain, Horner syndrome, Weight loss, Failure... |
OMIM:256700 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Exercise intolerance, Rhabdomyolysis, Increased muscle lipid content, Exercise-induced myalgia, T... |
ORPHA:228302 |
2P15P16.1 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Camptodactyly of finger, Facial palsy, Kyphosis, Optic atrophy, Protrudin... |
ORPHA:261349 |
Desmoplastic Small Round Cell Tumor |
|
Abdominal pain, Cachexia, Weight loss |
ORPHA:83469 |
Nodular Non-Suppurative Panniculitis |
|
Abdominal pain, Arthralgia, Myalgia, Weight loss |
ORPHA:33577 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Ataxia, Cholangitis, Rhabdomyolysis, Ragged-red muscle fibers, Decreased ac... |
OMIM:124000 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, ... |
ORPHA:1328 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Kyphosis, Depression, Truncal obesity, Mental deterioration, Emotional l... |
OMIM:219080 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Optic atrophy, Elbow flexion contrac... |
OMIM:618493 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Low-set ears, Scoliosis |
OMIM:615761 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased... |
OMIM:620278 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy, Myalgia, Hypert... |
ORPHA:2348 |
Al Amyloidosis |
|
Fatigue, Abnormal cardiac ventricle morphology, Weight loss, Abnormal heart morphology, Macroglos... |
ORPHA:85443 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Osteoarthritis... |
OMIM:177170 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Abnormal cardiac septum morphology, Sc... |
ORPHA:2075 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Arthralgia, Scoliosis, Aortic valve stenosis |
OMIM:252605 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Inflammatory abnormality of the eye, Scoliosis |
ORPHA:816 |
Acute Monoblastic/Monocytic Leukemia |
|
Fatigue, Weight loss |
ORPHA:514 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Sensorineural hearing impairment, Optic atrophy, Abnormal form... |
ORPHA:192 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr... |
ORPHA:79083 |
Simple Cryoglobulinemia |
|
Fatigue, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Progressive neu... |
ORPHA:91139 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal arthrogryposis, Lumbar scoliosis,... |
OMIM:609128 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Small for gestational age, Bicuspid aortic valve, Ventricular se... |
OMIM:610443 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
Cronkhite-Canada Syndrome |
|
Fatigue, Cachexia, Abdominal pain |
ORPHA:2930 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Osteoarthritis, Scoliosis |
ORPHA:2114 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Anaplastic Thyroid Carcinoma |
|
Pain, Weight loss, Abnormal skeletal muscle morphology |
ORPHA:142 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Pericardial effusion, Kyphosis, Abnormal cardiac septum morphology, Low-set ears, Fai... |
OMIM:608776 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Cryptorchidism, Kyphosis, Sensorineural hearing impairment, Scoliosis, Joint contracture |
OMIM:615381 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion co... |
OMIM:603387 |
Srd5A3-Cdg |
|
Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy, Hearing impairment |
ORPHA:324737 |
Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Shoulder girdle muscle atrophy |
ORPHA:64755 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Dystonia, Ataxia, Eczema, Short neck, Tremor, Kyphosis, Prominent protruding coccy... |
OMIM:300966 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Diastasis recti, S... |
OMIM:253220 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Tethered cord, Abnormal heart valve morphology,... |
ORPHA:280 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Weight loss, Arthritis, Ar... |
ORPHA:47612 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
4Q21 Microdeletion Syndrome |
|
Short neck, Tremor, Kyphosis, Low-set ears, Scoliosis, Hearing impairment |
ORPHA:238750 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Kyphosis, Optic atrophy,... |
ORPHA:7 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Eczema, Abdominal pain, Thyroiditis, Weight loss, Depression, Arthralgia, Recurrent aphth... |
OMIM:212750 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Night sweats, Arthralgia, Asthenia, Weight loss |
ORPHA:2902 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Frontotemporal dementia, Depression, Mental deterioration... |
ORPHA:100070 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Mitral valve prolapse, Proximal amyotrophy, Arthralgia, Muscle fiber s... |
OMIM:606408 |
Fatal Familial Insomnia |
|
Dementia, Ataxia, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:600072 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
Fucosidosis |
|
Decreased muscle mass, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Failure to t... |
ORPHA:349 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:85138 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Weakness o... |
OMIM:265000 |
Malignant Atrophic Papulosis |
|
Fatigue, Pain insensitivity, Abnormal pericardium morphology, Abdominal pain, Peritonitis, Weight... |
ORPHA:679 |
Solitary Fibrous Tumor |
|
Fatigue, Low back pain, Night sweats, Weight loss |
ORPHA:2126 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Weight loss |
ORPHA:2221 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Fatigue, Pulsatile tinnitus, Tremor, Cranial nerve compression, Weight loss, Episodic abdominal p... |
ORPHA:276621 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae, Low-set ears |
ORPHA:2522 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Aganglionic megacolon, Cachexia, Chorea, Athetosis, Dystonia |
ORPHA:52503 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Asthenia, Weight loss |
ORPHA:90003 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morp... |
ORPHA:3082 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Stickler Syndrome, Type I |
|
Kyphosis, Osteoarthritis, Sensorineural hearing impairment, Mitral valve prolapse, Arthritis, Pla... |
OMIM:108300 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Progressive gait ataxia, I... |
ORPHA:191 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Scoliosis, ... |
OMIM:617602 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Cryptorchidism, Kyphosis, Abnormal heart morphology, Attention deficit... |
ORPHA:404440 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormal heart valve morphology, Short neck, Kyphosis, Flexion contracture, Recurren... |
OMIM:309900 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Short neck, Abnormal antihelix morphology, Large earlobe, Low-se... |
ORPHA:1438 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia |
OMIM:611590 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Flexion contracture, Knee osteoarthritis, Oligoarthritis, Uveitis, Weight loss, En... |
ORPHA:85408 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cerv... |
OMIM:253010 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Obesity, Platyspondyly, Scoli... |
OMIM:251450 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Chorea, Dilated cardiomyopathy, Ragged-red muscle fibers, Optic atrophy, Sensorineural he... |
ORPHA:255210 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly, Cognitive impairment, Atrial septal defect, Hearing impairment |
ORPHA:93274 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Fatigue, Chest pain, Weight loss |
ORPHA:747 |
Juvenile Dermatomyositis |
|
Calcinosis, Fatigue, Myositis, Pericarditis, Skin rash, Abdominal pain, Weight loss, Cardiomyopat... |
ORPHA:93672 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Arthralgia, Scoliosis, Hump... |
OMIM:313400 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Failure to thrive, Small for gestational age, Ventricular septal defect, Ankle... |
ORPHA:464311 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Nephritis, Infectious encephalitis, Abdominal pa... |
ORPHA:2552 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Acute Promyelocytic Leukemia |
|
Fatigue, Abdominal pain, Bone pain, Weight loss, Gangrene |
ORPHA:520 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Alg1-Cdg |
|
Kyphosis, Abnormal heart morphology, Scoliosis, Cardiomyopathy |
ORPHA:79327 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Decreased fumarate hydratase activity |
OMIM:150800 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Bone pain, Gait disturbance |
ORPHA:85193 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Congenital muscular torticollis, Vertebral fusion, Kyphosis, Aplasia/Hypoplasia of the earlobes, ... |
ORPHA:2916 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy |
OMIM:222300 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Kyphosis, Optic atrophy, Bronchiectasis, Dysmetria, Knee flexion contrac... |
OMIM:619708 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Limb hyp... |
OMIM:619909 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Cachexia, Weight loss |
ORPHA:1979 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Chest pain, Weight loss |
ORPHA:79127 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Low-set ears, Atrial septal defect... |
ORPHA:2655 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis |
OMIM:180870 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abdominal pain, Myalgia, Weight loss |
ORPHA:54251 |
Snakebite Envenomation |
|
Pain, Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Emotio... |
OMIM:219090 |
African Trypanosomiasis |
|
Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Arthralgia, Conjunctiviti... |
ORPHA:3385 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Tremor, Kyphosis, Complete atrioventricular canal defect, Gait ataxia, Atte... |
ORPHA:476126 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Kyphosis, Optic atrophy, Contractures of ... |
OMIM:617527 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Posteriorly rotated ears, Camptodactyly of finger, Secundum atrial septal defect, Cryptorchidism,... |
OMIM:619951 |
Q Fever |
|
Fatigue, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Maculopapular exanthema, P... |
ORPHA:781 |
Thymoma |
|
Myositis, Glomerulonephritis, Night sweats, Ulcerative colitis, Weight loss, Chest pain, Myalgia,... |
ORPHA:99867 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Ataxia, Pericardial effusion, Kyphosis, Tremor, Flexion contracture, Macrotia, Dysm... |
OMIM:212065 |
Cystinosis, Nephropathic |
|
Male infertility, Hyponatremia, Diabetes mellitus, Hypomagnesemia, Reduced blood urea nitrogen, H... |
OMIM:219800 |
Ménétrier Disease |
|
Abdominal pain, Asthenia, Weight loss |
ORPHA:2494 |
Primary Myelofibrosis |
|
Fatigue, Flank pain, Constitutional symptom, Cachexia |
ORPHA:824 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Premature osteoarthritis, Elbow flexion cont... |
ORPHA:93360 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Kyphosis, Optic atrophy, Platyspondyly, Cognitive impairment, D... |
OMIM:618476 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Poems Syndrome |
|
Fatigue, Papilledema, Pericardial effusion, Weight loss, Paresthesia, Hyperesthesia, Pain, Sclero... |
ORPHA:2905 |
Wild Type Attr Amyloidosis |
|
Bowel incontinence, Weight loss, Abnormal autonomic nervous system physiology, Autonomic bladder ... |
ORPHA:330001 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Posteriorly rotated ears, Camptodactyly... |
ORPHA:2215 |
East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Shashi-Pena Syndrome |
|
Posteriorly rotated ears, Kyphosis, Cupped ear, Scoliosis, Low-set ears, Atrial septal defect, Ce... |
OMIM:617190 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Weight loss, Myalgia, Test... |
ORPHA:764 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Abnormal pinna morphology, Low-set ears |
ORPHA:77300 |
Immunodeficiency 31C |
|
Fatigue, Skeletal muscle atrophy, Osteomyelitis, Eczema, Bronchiectasis, Chronic mucocutaneous ca... |
OMIM:614162 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Protruding ear, Oti... |
OMIM:619475 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointerstitial nephriti... |
ORPHA:139402 |
Igg4-Related Aortitis |
|
Abdominal pain, Low back pain, Weight loss |
ORPHA:449400 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Sensorineural hearing impairment, Increased muscle lipid co... |
ORPHA:565612 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Multiple joint contractures, Small for gestational age, Ventricular septal def... |
ORPHA:464306 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Fl... |
ORPHA:3042 |
Carney-Stratakis Syndrome |
|
Abdominal pain, Weight loss |
ORPHA:97286 |
Hurler Syndrome |
|
Progressive neurologic deterioration, Short neck, Hypoplasia of the odontoid process, Kyphosis, F... |
OMIM:607014 |
Noonan Syndrome 14 |
|
Scapular winging, Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, Mitral valve pr... |
OMIM:619745 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Abdominal pain, Recurrent pneumonia, Weight loss, Arthritis, Gait disturbance,... |
ORPHA:420741 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Cryptorchidism, Kyphosis, Flexion contracture, Increased body wei... |
ORPHA:398069 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Protruding ear, Atrial septal defect, Spina bifida, H... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Protruding ear, Atrial septal defect, Spina bifida, H... |
ORPHA:363958 |
Polycythemia Vera |
|
Fatigue, Abdominal pain, Arthralgia, Weight loss |
ORPHA:729 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Poster... |
ORPHA:2461 |
Congenital Tufting Enteropathy |
|
Optic disc coloboma, Weight loss, Irritability, Arthritis, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hyperlordosis, External ear malformat... |
ORPHA:568 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... |
OMIM:300967 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
Eosinophilic Gastroenteritis |
|
Abdominal pain, Weight loss |
ORPHA:2070 |
Erdheim-Chester Disease |
|
Fatigue, Osteomyelitis, Ataxia, Abnormal pericardium morphology, Skin rash, Abdominal pain, Bone ... |
ORPHA:35687 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Posteriorly rotated ears, Kyphoscoliosis, Kyphosis, Cryptorchidism, Se... |
OMIM:301040 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Kyphosis, Sensorineural hearing ... |
ORPHA:521426 |
Harrod Syndrome |
|
Cryptorchidism, Kyphosis, Protruding ear, Scoliosis, Failure to thrive |
ORPHA:2115 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Abnormal mitral valve morphology |
ORPHA:1969 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Posteriorly rotated ears, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th ... |
OMIM:618050 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Gallbladder Neuroendocrine Tumor |
|
Chronic fatigue, Episodic abdominal pain, Weight loss |
ORPHA:100086 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Hypophosphatemia, Abnormal circ... |
ORPHA:534 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Renal Nutcracker Syndrome |
|
Fatigue, Flank pain, Abdominal pain, Weight loss |
ORPHA:71273 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Kyphosis, Dilated cardiomyopat... |
ORPHA:261250 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Optic disc pallor, Progressive neurologic deterioration, Kyphosis, Condu... |
ORPHA:90324 |
Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... |
ORPHA:699 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Fatigue, Pulsatile tinnitus, Tremor, Cranial nerve compression, Weight loss, Episodic abdominal p... |
ORPHA:29072 |
Lymphoid Interstitial Pneumonia |
|
Fatigue, Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid a... |
ORPHA:79128 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arthritis, Chronic fatigue, Cache... |
ORPHA:558 |
Bruck Syndrome |
|
Arthrogryposis multiplex congenita, Platyspondyly, Kyphosis, Scoliosis |
ORPHA:2771 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Malt Lymphoma |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:52417 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Kyphosis, Protruding ear, Pulmonic stenosis, Camptodac... |
OMIM:619123 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Aganglionic megacolon, Obesity, Attention deficit hyperactivity disorder |
ORPHA:261222 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Bilateral cryptorchidism, Thoracic kyphosis, Aspiration pneumonia, Cervical c... |
OMIM:602535 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Protruding ear, Abnormal antihelix morphology, Macroglossia, Scoliosis |
ORPHA:261144 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Cachexia, Cryptorchidism, Failure to thrive, Hearing impairment |
ORPHA:217346 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Large for gestational age |
OMIM:618272 |
Alkaptonuria |
|
Low back pain, Vertebral fusion, Mitral valve calcification, Diminished physical functioning, Kyp... |
OMIM:203500 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Cachexia, ... |
ORPHA:3380 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Brachyolmia Type 3 |
|
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Cachexia, Pneumonia, Ost... |
ORPHA:37042 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Depression, Truncal obesity, Mental deterioration, Emotional lability, Pancreatitis |
OMIM:610475 |
Nocardiosis |
|
Fatigue, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis, Lymp... |
ORPHA:31204 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Microtia, Severe sensorineural hearing i... |
ORPHA:2983 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Cryptorchidism, Kyphosis, Dysplastic tricuspid valve... |
ORPHA:1724 |
Granulomatosis With Polyangiitis |
|
Fatigue, Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Asthenia, Myalgia, Conjunctivi... |
OMIM:608710 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Acne, Kyphosis, Scoliosis, Low-set ears, Atrial septal defect |
ORPHA:261190 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
Fountain Syndrome |
|
Spina bifida, Kyphosis, Sensorineural hearing impairment, Abnormal form of the vertebral bodies, ... |
ORPHA:3219 |
Cohen Syndrome |
|
Failure to thrive in infancy, Ventricular septal defect, Cryptorchidism, Kyphosis, Aplasia/Hypopl... |
ORPHA:193 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hyperuricemia |
OMIM:300322 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Memory impairment, Frontotemporal dementia, Amyotrophic lateral sclerosis, Dementia |
OMIM:619132 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Chorea, Protruding ear, Athetosis, Irritability, Scoliosis, Dystonia |
OMIM:613454 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Pericardial effusion, Hepatitis, Atopic der... |
OMIM:615846 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Cryptorchidism, Kyphosis, Protruding ear, Vertebral segm... |
ORPHA:96169 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Kyphoscoliosis, Asymmetry of the ears, Cryptorchidism, Kyphosis, Unsteady ... |
ORPHA:3063 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Flexion contracture, Irregular vertebral endplates, Arthralgia, Waddling gait, Lumbar... |
OMIM:143095 |
Achondroplasia |
|
Lumbar hyperlordosis, Hearing impairment, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar... |
ORPHA:15 |
Castleman Disease |
|
Fatigue, Abdominal pain, Flank pain, Weight loss, Constitutional symptom |
ORPHA:160 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Thenar muscle atrophy, Contracture of the distal interphalangeal joint o... |
OMIM:607015 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Weight loss, Enthesitis, Arthritis, Inflamm... |
ORPHA:29207 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Cowden Syndrome 5 |
|
Kyphosis, Thyroiditis, Hydrocele testis, Scoliosis, Intention tremor, Hearing impairment |
OMIM:615108 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology |
ORPHA:3121 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensation, Cryptorchidism, Kyp... |
OMIM:176270 |
3M Syndrome |
|
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Protruding ear... |
ORPHA:2616 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fatigue, Acute pancreatitis, Ataxia, Dilated cardiomyopathy, Weight loss |
ORPHA:20 |
Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Cachexia, Abnormal tragus morphology, Scoliosis |
ORPHA:1133 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Abnormal heart morphology, Weight loss, Lower-limb joint contracture, Arthrogryposis mult... |
ORPHA:99885 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Night sweats, Chronic fatigue, Episodic abdominal pain, Weight loss |
ORPHA:100085 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Cupped ear, Hemivertebrae, Overfolded helix, Contracture of the proximal in... |
OMIM:618223 |
Familial Pancreatic Carcinoma |
|
Back pain, Abdominal pain, Chronic fatigue, Weight loss |
ORPHA:1333 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Alstrom Syndrome |
|
Chronic active hepatitis, Kyphosis, Dilated cardiomyopathy, Recurrent pneumonia, Truncal obesity,... |
OMIM:203800 |
Granulomatosis With Polyangiitis |
|
Fatigue, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Abdominal pain, Pro... |
ORPHA:900 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Myalgia |
ORPHA:98849 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemiver... |
ORPHA:958 |
Cockayne Syndrome A |
|
Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrease... |
OMIM:216400 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S... |
ORPHA:392 |
Thymic Neuroendocrine Tumor |
|
Chest pain, Weight loss |
ORPHA:97289 |
Cowden Syndrome 6 |
|
Kyphosis, Thyroiditis, Hydrocele testis, Scoliosis, Intention tremor, Hearing impairment |
OMIM:615109 |
Acrodermatitis Enteropathica |
|
Pustule, Cheilitis, Weight loss, Conjunctivitis, Emotional lability, Failure to thrive, Blepharitis |
ORPHA:37 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Optic d... |
ORPHA:251014 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Confusion, Cachexia, Skin rash, Optic atrophy, Hearing impairment |
ORPHA:220295 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of the vertebral... |
ORPHA:666 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Kyphosis, Inability to walk, Recurrent pneumonia, Scoliosis, Difficult... |
ORPHA:464738 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Cryptorchidism, Ky... |
OMIM:616894 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Osteoarthritis, Sensorineural hearing impairment, Bo... |
ORPHA:828 |
Gm1-Gangliosidosis, Type I |
|
Abnormal heart valve morphology, Short neck, Kyphosis, Dilated cardiomyopathy, Hypoplastic verteb... |
OMIM:230500 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Kyphosis, Optic atrophy, Scoliosis, Macrotia |
ORPHA:2510 |
Budd-Chiari Syndrome |
|
Abdominal pain, Weight loss |
ORPHA:131 |
Pancreatoblastoma |
|
Abdominal pain, Weight loss |
ORPHA:677 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Abnormal pulmonary valve cusp morphology, Night sweats, Weight loss, Chest pain |
ORPHA:97287 |
Mend Syndrome |
|
Sacral dimple, Abnormal auditory evoked potentials, Cryptorchidism, Kyphosis, Abnormal heart morp... |
ORPHA:401973 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis |
OMIM:609008 |
Primary Sclerosing Cholangitis |
|
Fatigue, Abdominal pain, Hepatitis, Uveitis, Depression, Weight loss, Ulcerative colitis, Thyroid... |
ORPHA:171 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Neuroendocrine Tumor Of The Colon |
|
Abdominal pain, Weight loss |
ORPHA:100080 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Protruding ear, Scoliosis, Macrotia |
ORPHA:236 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Aminoaciduria, Hypocalcemia |
OMIM:617913 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Kyphosis, Sensorineural hearing impairment, Protruding ear, Scoliosis |
ORPHA:2479 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Abdominal pain, Weight loss, Chest pain, Constrictive pericardit... |
ORPHA:67 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Cachexia, Myopathy, Scoliosis, Macrotia, Hashimoto thyroiditis |
ORPHA:109 |
Glycogen Storage Disease Xii |
|
Short neck, Myopathy, Cholecystitis, Increased variability in muscle fiber diameter, Muscle fiber... |
OMIM:611881 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:309031 |
Adrenocortical Carcinoma |
|
Abdominal pain, Increased body weight, Weight loss |
ORPHA:1501 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis |
ORPHA:1798 |
Cowden Syndrome 1 |
|
Kyphosis, Thyroiditis, Hydrocele testis, Scoliosis, Intention tremor, Hearing impairment |
OMIM:158350 |
Weaver Syndrome |
|
Diastasis recti, Cryptorchidism, Kyphosis, Macrotia, Hydrocele testis, Scoliosis, Camptodactyly, ... |
OMIM:277590 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Camptodactyly of finger, Cryp... |
ORPHA:1606 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Pericardial ef... |
ORPHA:536532 |
Spondyloenchondrodysplasia |
|
Skin rash, Pneumonia, Kyphosis, Chorea, Hepatitis, Arthritis, Platyspondyly, Myalgia, Juvenile rh... |
ORPHA:1855 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Scapular winging, Kyphosis, Dural ectasia, Mitral valve prolapse, Keratoconjunctivitis sicca |
OMIM:616914 |
Fanconi Anemia |
|
Aganglionic megacolon, Spina bifida, External ear malformation, Cryptorchidism, Tetralogy of Fall... |
ORPHA:84 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Uplifted earlobe, Kyphosis, Recurrent pneumonia, Scoliosis, Low-set ea... |
OMIM:616449 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Acne, Secund... |
OMIM:249420 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Atrial septal defect, Hearing impa... |
ORPHA:1860 |
Osteootohepatoenteric Syndrome |
|
Abdominal pain, Failure to thrive, Weight loss |
OMIM:619377 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Mitral valve calcification, Broad-based gait, Cachexia, Aortic valve calcification, ... |
ORPHA:2072 |
Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Ventricular septal defect, Camptodactyly of fin... |
ORPHA:1507 |
Beta-Ketothiolase Deficiency |
|
Body odor, Ataxia, Weight loss |
ORPHA:134 |
Pneumocystosis |
|
Acute infectious pneumonia, Chronic oral candidiasis, Interstitial pneumonitis, Weight loss |
ORPHA:723 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large ... |
ORPHA:457359 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level |
OMIM:607364 |
Pycnodysostosis |
|
Hyperlordosis, Overweight, Kyphosis, Chronic pain, Mild conductive hearing impairment, Spondyloly... |
ORPHA:763 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
Dermatomyositis |
|
Fatigue, Pericarditis, Myocarditis, Weight loss, Inflammatory myopathy, Arthritis, Arthralgia, My... |
ORPHA:221 |
Williams Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Tremor, Abnormal form of the vertebral bodies, Dysmetria, Pr... |
ORPHA:904 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Multiple Endocrine Neoplasia, Type Iib |
|
Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Scoliosis |
OMIM:162300 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Non-obstructive azoosperm... |
ORPHA:2232 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Hip contracture, Posteriorly rotated ears, Short neck, Prominent crus of helix,... |
OMIM:619194 |
Stevens-Johnson Syndrome |
|
Fatigue, Sudden cardiac death, Abdominal pain, Weight loss, Conjunctivitis, Abnormal myocardium m... |
ORPHA:36426 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Tropical Pancreatitis |
|
Epigastric pain, Weight loss |
ORPHA:103918 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis, Hearing impairment |
OMIM:259420 |
Neuroendocrine Tumor Of The Rectum |
|
Abdominal pain, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Abdominal pain, Weight loss |
ORPHA:100082 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity |
OMIM:229300 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Cryptorchidism, Kyphosis, Attention deficit hyperactivity disorder, Scol... |
OMIM:619005 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Weight loss, Chest pain, Precordial pain, Failure to thrive |
ORPHA:1018 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Broad-based gait, Small for gestational age, Failure to thrive in infancy, Ventric... |
ORPHA:268261 |
Toxic Epidermal Necrolysis |
|
Fatigue, Sudden cardiac death, Abdominal pain, Weight loss, Conjunctivitis, Abnormal myocardium m... |
ORPHA:537 |
Cockayne Syndrome B |
|
Small for gestational age, Ataxia, Abnormal auditory evoked potentials, Abnormal pinna morphology... |
OMIM:133540 |
Insulin-Resistance Syndrome Type B |
|
Fatigue, Skin rash, Abnormality of body weight, Pneumonia, Osteoarthritis, Increased body weight,... |
ORPHA:2298 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Urinary incontinence, Bowel incontinence, Kyphosis, Platyspondyly, Recurren... |
OMIM:616482 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Dysmetria, Supravalvar pulmonary stenosis, Protruding ear, Pulmonic sten... |
OMIM:620185 |
Primary Intestinal Lymphangiectasia |
|
Abdominal pain, Weight loss |
ORPHA:90362 |
Kikuchi-Fujimoto Disease |
|
Fatigue, Ataxia, Skin rash, Pustule, Myocarditis, Night sweats, Weight loss, Arthralgia, Myalgia,... |
ORPHA:50918 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma, Short neck, Recurrent pneumonia, Attention d... |
ORPHA:647 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy |
OMIM:613154 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Kyphosis, Abnormal antihelix morphology, Vertebral segmentatio... |
ORPHA:1005 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro... |
OMIM:106300 |
Gaucher Disease Type 1 |
|
Abdominal pain, Pericardial effusion, Kyphosis, Osteoarthritis, Bone pain, Abnormal myocardium mo... |
ORPHA:77259 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Depression, Truncal obesity, Mental deterioration, Emotional lability |
OMIM:610489 |
Xfe Progeroid Syndrome |
|
Cachexia, Optic atrophy, Scoliosis, Failure to thrive, Hearing impairment |
OMIM:610965 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Posteriorly rotated ears, Kyphosis,... |
ORPHA:79329 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Hajdu-Cheney Syndrome |
|
Mitral stenosis, Ventricular septal defect, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosi... |
ORPHA:955 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, Kyphosis, Low-set ears |
OMIM:619244 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Ventricular septal defect, Congenital d... |
ORPHA:818 |
Poland Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Kyphosis, Aplasia of t... |
ORPHA:2911 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Aganglionic megacolon, Camptodactyly of finger, Eczema, Keratitis, Cryptorchidism, ... |
ORPHA:2273 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Large for gestational age, Short neck, Kyphosis, Cardiac fibroma, Abnormality o... |
ORPHA:77301 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Decreased muscle mass, Sacral dimple, Small for gestational age, Ventricular se... |
OMIM:194190 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Body odor, Arthralgia, Kyphosis |
OMIM:300942 |
Familial Thrombocytosis |
|
Chest pain, Weight loss |
ORPHA:71493 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fatigue, Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Abnormality of the ext... |
ORPHA:79078 |
Hermansky-Pudlak Syndrome |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:79430 |
Acromegaly |
|
Fatigue, Acne, Kyphosis, Osteoarthritis, Spinal canal stenosis, Depression, Macroglossia, Arthral... |
ORPHA:963 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Bone pain, Hemivertebrae, Abn... |
ORPHA:2062 |
Igg4-Related Kidney Disease |
|
Fatigue, Pericarditis, Inflammatory abnormality of the skin, Abdominal pain, Lymphadenitis, Urina... |
ORPHA:449395 |
Seckel Syndrome |
|
Cachexia, Abnormal earlobe morphology, Cognitive impairment, Scoliosis, Absent earlobe |
ORPHA:808 |
Cowden Syndrome |
|
Ataxia, Kyphosis, Macroglossia, Cognitive impairment, Scoliosis, Failure to thrive, Hearing impai... |
ORPHA:201 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Ileal Neuroendocrine Tumor |
|
Chronic fatigue, Episodic abdominal pain, Weight loss |
ORPHA:100078 |
Cono-Spondylar Dysplasia |
|
Short neck, Kyphosis, Low-set ears, Scoliosis, Failure to thrive |
ORPHA:420794 |
Caroli Disease |
|
Chills, Abdominal pain, Abdominal rigidity, Weight loss |
ORPHA:53035 |
Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
Pulmonary Alveolar Microlithiasis |
|
Fatigue, Mitral valve calcification, Bronchiectasis, Weight loss, Chest pain, Testicular microlit... |
ORPHA:60025 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Posteriorly rotated ears, Large for gestational age, Hyperlordosis, Kyphosis, Gait ataxia, Scolio... |
OMIM:617011 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Protruding ear, Scoliosis, Absent earlobe, Hearing impairment |
OMIM:619557 |
Somatomammotropinoma |
|
Fatigue, Kyphosis, Osteoarthritis, Spinal canal stenosis, Depression, Macroglossia, Arthralgia, P... |
ORPHA:314769 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairment, Irregular vertebr... |
OMIM:271700 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Fatigue, Papilledema, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Abdominal pain, Flan... |
ORPHA:91500 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Weight loss, Arthritis, Inflammat... |
OMIM:301074 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, High-frequency sensorineural hearing impairment, Mitral valve calcificat... |
ORPHA:740 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Increased body weight, Recurrent cutaneous fungal infections, Weight loss, Proximal amyotro... |
ORPHA:99889 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Low-set ears, Scoliosis, Hearing impair... |
ORPHA:140 |
Mend Syndrome |
|
Sacral dimple, Posteriorly rotated ears, Cryptorchidism, Kyphosis, Overfolded helix, Low-set ears... |
OMIM:300960 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
Zttk Syndrome |
|
Ventricular septal defect, Kyphosis, Flexion contracture, Optic atrophy, Hemivertebrae, Protrudin... |
OMIM:617140 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Ventricular septal defect, Abnormal pinna morphology, Congenital diaphragmatic her... |
OMIM:135900 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular ... |
OMIM:182250 |
Glucagonoma |
|
Skin rash, Chronic fatigue, Depression, Weight loss, Episodic abdominal pain, Stomatitis |
ORPHA:97280 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Calcification of the auricular cartilage, Ataxia, Bilat... |
OMIM:259050 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Neuroendocrine Tumor Of Stomach |
|
Episodic abdominal pain, Weight loss |
ORPHA:100075 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Abdominal pain, Gastritis, Bronch... |
OMIM:619381 |
Somatostatinoma |
|
Chronic fatigue, Episodic abdominal pain, Weight loss |
ORPHA:97283 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Pericardial effusion, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arth... |
OMIM:181000 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis, Mitral valve prolapse |
OMIM:177850 |
Rabson-Mendenhall Syndrome |
|
Hypokalemia, Increased C-peptide level |
ORPHA:769 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
Aspartylglucosaminuria |
|
Acne, Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of... |
OMIM:208400 |
Wrinkly Skin Syndrome |
|
Scapular winging, Hypoplasia of the musculature, Cryptorchidism, Kyphosis, Muscular ventricular s... |
OMIM:278250 |
Vipoma |
|
Chronic fatigue, Episodic abdominal pain, Weight loss |
ORPHA:97282 |
Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:251110 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Hearing impairment |
OMIM:166220 |
Neurofibromatosis Type 1 |
|
Ataxia, Cryptorchidism, Kyphosis, Paresthesia, Attention deficit hyperactivity disorder, Scoliosi... |
ORPHA:636 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Abdominal pain, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Wei... |
ORPHA:99921 |
Tsh-Secreting Pituitary Adenoma |
|
Fatigue, Pericardial effusion, Tremor, Weight loss |
ORPHA:91347 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Facial palsy, Cryptorchidism, Kyphosis, Scoliosis, Macrotia |
ORPHA:2658 |
Proteus Syndrome |
|
Decreased muscle mass, Sudden cardiac death, Testicular neoplasm, Cachexia, Kyphosis, Abnormal fo... |
ORPHA:744 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
17Q11 Microdeletion Syndrome |
|
Short attention span, Rhabdomyosarcoma, Kyphosis, Abnormal heart morphology, Memory impairment, D... |
ORPHA:97685 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence, Kyphosis, Difficulty walking, Scoliosis, Aspiration pneumonia |
OMIM:619482 |
Sarcoidosis |
|
Fatigue, Maculopapular exanthema, Facial palsy, Erythema nodosum, Bronchiectasis, Uveitis, Weight... |
ORPHA:797 |
Norrie Disease |
|
Cachexia, Cryptorchidism, Macrotia, Sensorineural hearing impairment, Optic atrophy, Protruding e... |
ORPHA:649 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Bicuspid aortic valve, Short neck, External ear malformation, Kypho... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Failure to thrive in infancy, Bicuspid aortic valve, Short neck, External ear malformation, Kypho... |
ORPHA:99228 |
Monosomy X |
|
Failure to thrive in infancy, Bicuspid aortic valve, Short neck, External ear malformation, Kypho... |
ORPHA:99226 |
Sotos Syndrome |
|
Hip contracture, Sacrococcygeal teratoma, Aganglionic megacolon, Ventricular septal defect, Ankle... |
ORPHA:821 |
Turner Syndrome |
|
Failure to thrive in infancy, Bicuspid aortic valve, Short neck, External ear malformation, Kypho... |
ORPHA:881 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Hypokalemia |
ORPHA:18 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Low-set ears |
OMIM:258850 |
Ramon Syndrome |
|
Optic disc pallor, Kyphosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis, Hea... |
OMIM:266270 |
Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Kyphosis, Scoliosis |
OMIM:619718 |
Multiple Endocrine Neoplasia Type 1 |
|
Short attention span, Confusion, Abdominal pain, Cranial nerve compression, Weight loss, Depressi... |
ORPHA:652 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... |
OMIM:259770 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Abdominal pain, Abnormal heart morphology, Low-set ears, Atrial septal defect |
ORPHA:79076 |
Ppoma |
|
Episodic abdominal pain, Weight loss |
ORPHA:97278 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Kyphosis, Atresia of the external auditory canal, Conduc... |
ORPHA:1393 |
Cleidocranial Dysplasia 1 |
|
Hearing impairment, Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Friedreich Ataxia 2 |
|
Decreased pyruvate carboxylase activity, Muscular subvalvular aortic stenosis, Concentric hypertr... |
OMIM:601992 |
Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia |
ORPHA:786 |
Nelson Syndrome |
|
Hypokalemia |
ORPHA:199244 |
Lymphedema-Distichiasis Syndrome |
|
Conjunctivitis, Kyphosis, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Camptodactyly of finger, Cryptorchidism, Kyphosis, Platyspondyly, Scoliosis, J... |
OMIM:309000 |
Proximal Renal Tubular Acidosis |
|
Hypokalemia, Aminoaciduria, Bicarbonaturia |
ORPHA:47159 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Abnormal earlobe morphology, Abnormal form of the vertebral bodies, Large earlobe, Scol... |
ORPHA:2769 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Cdags Syndrome |
|
Kyphosis, Sensorineural hearing impairment |
OMIM:603116 |
Tropical Endomyocardial Fibrosis |
|
Fatigue, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, Myoca... |
ORPHA:75565 |
Zollinger-Ellison Syndrome |
|
Episodic abdominal pain, Weight loss |
ORPHA:913 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Grfoma |
|
Episodic abdominal pain, Weight loss |
ORPHA:97261 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:277400 |
Viss Syndrome |
|
Chronic gastritis, Right ventricular dilatation, Atrial septal defect, Patent foramen ovale, Coro... |
OMIM:619472 |
Scorpion Envenomation |
|
Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase... |
ORPHA:466677 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Sensorineural hearing impairment |
OMIM:609944 |
Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Facial palsy, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Sens... |
OMIM:113620 |
Classic Homocystinuria |
|
Kyphosis, Optic atrophy, Scoliosis |
ORPHA:394 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Eczema, Hearing impairment |
ORPHA:85199 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Yunis-Varon Syndrome |
|
Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy... |
OMIM:216340 |
Coffin-Lowry Syndrome |
|
Kyphosis, Sensorineural hearing impairment, Protruding ear, Lumbar kyphosis, Scoliosis, Decreased... |
OMIM:303600 |
Alström Syndrome |
|
Thoracic scoliosis, Urinary incontinence, Hypoplasia of the Leydig cells, Otitis media, Severe se... |
ORPHA:64 |
Occipital Horn Syndrome |
|
Kyphosis, Hepatitis, Platyspondyly, Esophagitis, Scoliosis |
ORPHA:198 |
Leprechaunism |
|
Hypokalemia, Increased circulating renin level |
ORPHA:508 |
Occipital Horn Syndrome |
|
Kyphosis, Orthostatic hypotension, Platyspondyly |
OMIM:304150 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |
Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia |
ORPHA:286 |