Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Narcolepsy 1 |
|
Excessive daytime somnolence, Narcolepsy, Sleep paralysis, Abnormal rapid eye movement sleep |
OMIM:161400 |
Idiopathic Hypersomnia |
|
Excessive daytime somnolence, Hypersomnia, Sleep disturbance |
ORPHA:33208 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Narcolepsy Type 2 |
|
Excessive daytime somnolence, Insomnia, Sleep disturbance |
ORPHA:83465 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Narcolepsy 3 |
|
Excessive daytime somnolence, Narcolepsy, Abnormal rapid eye movement sleep |
OMIM:609039 |
Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Advanced Sleep Phase Syndrome, Familial, 2 |
|
Early chronotype, Sleep-wake cycle disturbance |
OMIM:615224 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy |
OMIM:604432 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy |
ORPHA:98766 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy |
OMIM:616410 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... |
OMIM:601376 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Narcolepsy 7 |
|
Excessive daytime somnolence, Narcolepsy |
OMIM:614250 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Acromesomelic Dysplasia 2A |
|
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... |
OMIM:200700 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy |
OMIM:613371 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy |
ORPHA:211017 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Short st... |
OMIM:614963 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... |
OMIM:601098 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... |
ORPHA:2932 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:605388 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Short stature, Osteopenia, Osteoporosis, Camptodactyly, Enlarged e... |
OMIM:264010 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... |
ORPHA:2098 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... |
OMIM:112910 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Neonatal short-limb short stature, Hypoplasia of the radius, Short tibia, Pseudoarthrosis, Mesome... |
OMIM:156230 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy |
OMIM:615268 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
ORPHA:50811 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Lethal Faciocardiomelic Dysplasia |
|
Intrauterine growth retardation, Microretrognathia, Hypoplasia of the radius, Radial club hand, S... |
ORPHA:1972 |
Acromesomelic Dysplasia 2C |
|
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... |
OMIM:201250 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... |
ORPHA:206594 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, Inability to walk, Decreased nerve conduction vel... |
ORPHA:457205 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy |
OMIM:619333 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy |
OMIM:617769 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... |
ORPHA:2501 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Disproport... |
OMIM:127300 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Failure to thrive, Disproportionate short-limb short stature, Short femur, Short humerus, Rhizome... |
OMIM:600121 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Gait imbalance, Broad-based gait, Decreased nerve conduction velocity, Tip-toe gait, Abolished vi... |
ORPHA:435387 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia |
OMIM:615041 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... |
OMIM:615415 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decreased amplitude of s... |
OMIM:618912 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... |
ORPHA:53697 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy |
OMIM:617133 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Distal se... |
OMIM:608323 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Restless legs, Insomnia, Sleep disturbance |
OMIM:102300 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... |
OMIM:249700 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Short stature, Cerebellar hypoplasia, Hypogonadism, Postnatal growth retardation, Central... |
OMIM:616113 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Charcot-Marie-Tooth Disease Type 1A |
|
Gait imbalance, Spontaneous pain sensation, Sensory ataxia, Decreased sensory nerve conduction ve... |
ORPHA:101081 |
Null Syndrome |
|
Abnormal cerebellum morphology, Ataxia, Inability to walk, Decreased nerve conduction velocity, O... |
ORPHA:280234 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Hypoesthesia, Onion bulb formation, Decreased motor nerve conduction ... |
OMIM:609311 |
Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... |
ORPHA:166016 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... |
OMIM:618728 |
Sim1-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... |
ORPHA:398079 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... |
ORPHA:90103 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Short stature, Hypergonadotropic hypogonadism, Hypogonadotrop... |
OMIM:604168 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... |
ORPHA:75508 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Distal sens... |
ORPHA:352675 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduction velocit... |
OMIM:607706 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Hypertrophic nerve chang... |
DECIPHER:29 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Mult... |
ORPHA:1879 |
Craniopharyngioma |
|
Growth delay, Enlarged pituitary gland, Type II diabetes mellitus, Postnatal growth retardation, ... |
ORPHA:54595 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Excessive daytime somnolence, Narcolepsy |
OMIM:604121 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormality of tibia morphology, Bowi... |
ORPHA:1802 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short stature, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foo... |
OMIM:605274 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Periphe... |
ORPHA:99939 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait |
OMIM:302801 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Leukodystrophy, Hypomyelinating, 18 |
|
Failure to thrive, Decreased nerve conduction velocity, Dysmetria, Abnormal motor nerve conductio... |
OMIM:618404 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility |
OMIM:617442 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... |
OMIM:619489 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Short stature, Truncal obesity, Gait disturbance, Premature ... |
ORPHA:2928 |
Charcot-Marie-Tooth Disease Type 4G |
|
Gait imbalance, Loss of ambulation, Motor conduction block, Impaired vibratory sensation, Decreas... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... |
OMIM:605588 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:264700 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short stature, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia... |
OMIM:612447 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Dysmetria, Impaired vibration sensation in the lower... |
OMIM:159550 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Gait disturbance, Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy |
OMIM:616187 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Inability to walk, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... |
OMIM:618184 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Cerebellar hypoplasia |
OMIM:604213 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Magel2-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Increased bod... |
ORPHA:398069 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Ataxia, Decreased nerve conduction velocity, Impaired pain sensation |
ORPHA:101078 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Dysdiadochokinesis, Optic atrophy, Optic disc pallor, Choreo... |
ORPHA:98890 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine growth retardation, Sho... |
ORPHA:1505 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Severe short stature, Abnormal morphology of ulna... |
ORPHA:3344 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Sh... |
ORPHA:231720 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction... |
OMIM:600882 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature |
OMIM:608278 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Ataxia, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micrope... |
OMIM:308750 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly, Short stature |
OMIM:300484 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Failure to thrive, Ataxia, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, Ce... |
OMIM:618356 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral axonal neuropathy, Dist... |
OMIM:600361 |
Roussy-Lévy Syndrome |
|
Limb ataxia, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sen... |
ORPHA:3115 |
Cednik Syndrome |
|
Ataxia, Short stature, Optic atrophy, Hypogonadism, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the cerebellum |
ORPHA:1188 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Short stature |
ORPHA:1368 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... |
OMIM:601382 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Gait ... |
ORPHA:101077 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Ataxia, Cerebellar atrophy, Azoospermia |
OMIM:613909 |
Slc35A2-Cdg |
|
Intrauterine growth retardation, Talipes equinovarus, Craniosynostosis, Short stature, Osteopenia... |
ORPHA:356961 |
Monosomy 5P |
|
Recurrent fractures, Microretrognathia, Inguinal hernia, Short stature, Small hand, Abnormality o... |
ORPHA:281 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Meningioma |
|
Ataxia, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abn... |
ORPHA:2495 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... |
OMIM:614436 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Sensory ataxia, S... |
OMIM:145900 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, female, Female infertility, Streak ovary, Abnormality of the male genitalia,... |
ORPHA:261529 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:277440 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Distal sensory impai... |
OMIM:613641 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Distal sensory impairment, Decreased nerve conduction velocity, Peripheral demy... |
ORPHA:99944 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Motor axonal neuropathy, Ataxia, Dysmetria, Short stature, Hypogonadotropic hypogonadism, Paresth... |
ORPHA:48431 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Intrauterine growth retarda... |
OMIM:601560 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Ataxia, Decreased serum testosterone concentration, Leydig cell insensitivity... |
OMIM:308700 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... |
OMIM:614895 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Ataxia, Impaired pain sensation, Abnormal nerve conduction velocity |
ORPHA:101075 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Cerebellar atrophy, Azoospermia |
ORPHA:276183 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Orofaciodigital Syndrome Type 10 |
|
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity, Unsteady gait, Impaired vibratory sensation |
ORPHA:139536 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... |
ORPHA:1263 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Ulnar bowing, Mesomelic short stature, Short forearm |
OMIM:127350 |
Premature Ovarian Failure 6 |
|
Female infertility, Streak ovary, Primary amenorrhea, Secondary amenorrhea, Premature ovarian ins... |
OMIM:612310 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Frontal bossing, Plagiocephaly, Brachycephaly |
OMIM:300064 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Gait disturbance, Abnormality of peripheral nerve conduction, Abnormal cerebellum morphology, Dif... |
ORPHA:101001 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Gait disturbance, Onion bulb formation, Decreased nerve conduction velocity, Distal sensory impai... |
OMIM:615284 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... |
ORPHA:289157 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... |
OMIM:214400 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... |
OMIM:183849 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short stature, Short tibia, Microgn... |
OMIM:201170 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Short stature, Slen... |
OMIM:619795 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ... |
OMIM:162500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Gnathodiaphyseal Dysplasia |
|
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... |
OMIM:166260 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... |
ORPHA:1916 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Cerebellar vermis atrophy, Decreased num... |
OMIM:270550 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Micromelia... |
OMIM:251230 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... |
OMIM:618160 |
Warburg Micro Syndrome 4 |
|
Inability to walk, Micropenis, Short stature, Severe postnatal growth retardation, Decreased moto... |
OMIM:615663 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Leukocytosis, ST segment depression, Cerebral ischemia, Syncope, Prolonged Q... |
ORPHA:90065 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Distal sensory impairment, Steppage gait |
OMIM:302802 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Short stature, Synostosis of carpal bones, Abnormality of fibula... |
ORPHA:988 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Decreased motor nerve conduction velocity |
ORPHA:640 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Ataxia, Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased amplitude... |
OMIM:616688 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Dysmetria, Tip-toe gait, Axonal degeneration, Onion bulb formation, Decreased motor nerve conduct... |
OMIM:302800 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Hypogonadotr... |
ORPHA:2235 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... |
OMIM:605253 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment, ... |
OMIM:606595 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... |
ORPHA:882 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... |
OMIM:611497 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... |
OMIM:300009 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment |
OMIM:613287 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Impaired distal vibration sensation, Inability to walk, Abnormal sensory nerve ... |
ORPHA:276435 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Progressive cerebellar ataxia, D... |
ORPHA:98755 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... |
ORPHA:98856 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Difficulty walking, Decreased compound muscle action potential amplitude |
OMIM:619112 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Optic atrophy, Postnatal growth retardation, Cryptorchidism, Decreased motor nerve conduction vel... |
OMIM:615419 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Limb ataxia, Somatic sensory dysfunction, Gait ataxia, Cerebellar atrophy, Abnormal nerve conduct... |
OMIM:619862 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Distal sensory impairment |
OMIM:608895 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia |
OMIM:616531 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:604563 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... |
ORPHA:289176 |
Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Po... |
OMIM:614326 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal cerebellum morphology, Loss of ambulation, EEG abnormality, Decreased nerve conduction v... |
ORPHA:565624 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Difficulty walking |
OMIM:615575 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Distal senso... |
OMIM:118200 |
Weismann-Netter Syndrome |
|
Severe short stature, Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Anterior ti... |
OMIM:112350 |
Charcot-Marie-Tooth Disease Type 4D |
|
Inability to walk, Decreased motor nerve conduction velocity, Distal sensory impairment, Decrease... |
ORPHA:99950 |
Kallmann Syndrome |
|
Ataxia, Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amen... |
ORPHA:478 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity |
OMIM:183050 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Irregular acetabular roof, Genu valg... |
OMIM:156500 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
Spinocerebellar Ataxia 1 |
|
Progressive cerebellar ataxia, Spinocerebellar atrophy, Decreased sensory nerve conduction veloci... |
OMIM:164400 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Growth delay, Choreoathetosis, Decreased nerve conduction velocity |
OMIM:614932 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Proportionate short st... |
ORPHA:759 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Inability to walk |
ORPHA:431329 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Short stature, Osteopenia, Femoral bowing, Increased susceptibility to fract... |
OMIM:615066 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Atrial septal defect, Nephritis, Hepatomegaly, Splenomegaly, Renal tubular at... |
OMIM:617303 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... |
ORPHA:93108 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... |
ORPHA:52901 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Spast... |
OMIM:270685 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Coxoauricular Syndrome |
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Abnormality of femur morphology, Reduced bone mineral density, Short stature, Micromelia, Abnorma... |
ORPHA:1508 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... |
ORPHA:2639 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Short... |
OMIM:607143 |
Solitary Bone Cyst |
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Lytic defects of the radius, Abnormal humeral diaphysis morphology, Abnormality of the pubic bone... |
ORPHA:83468 |
Xeroderma Pigmentosum, Complementation Group B |
|
Ataxia, Decreased nerve conduction velocity, Short stature, Optic atrophy, Cerebellar atrophy, Hy... |
OMIM:610651 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
Neuronal Intranuclear Inclusion Disease |
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Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, G... |
OMIM:603472 |
3-Methylglutaconic Aciduria, Type Iv |
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Cerebellar dysplasia |
OMIM:250951 |
Charcot-Marie-Tooth Disease Type 1B |
|
Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased nerve conduction velocity, P... |
ORPHA:101082 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Reduced bone mineral density, Interphalangeal joint erosions, Osteopenia, Abnormality of limb bon... |
ORPHA:85435 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait |
OMIM:118300 |
Kennedy Disease |
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Testicular atrophy, Type II diabetes mellitus, Gait disturbance, Erectile dysfunction, Decreased ... |
ORPHA:481 |
Dystonia 30 |
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Loss of ambulation, Hypothalamic hamartoma |
OMIM:619291 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Hepatomegaly, Splenomegaly |
OMIM:619175 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
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Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Van Buchem Disease |
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Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Microphthalmia With Limb Anomalies |
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Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Cryptorchidism, Interhypothalamic Adhesion, Supernumerary nipple, Micropenis |
OMIM:618929 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Optic atrophy, Gait disturbance, Impaired pain sensation, Abnormal nerve conduction velocity |
ORPHA:99014 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
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Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:249900 |
Orofaciodigital Syndrome Ix |
|
Short stature, Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly |
OMIM:258865 |
Cardiomyopathy, Familial Hypertrophic, 8 |
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Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, Short stature, High iliac wing, Metatars... |
ORPHA:85170 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... |
OMIM:307800 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... |
OMIM:135750 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia |
OMIM:616490 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminas... |
ORPHA:858 |
Amyotrophic Lateral Sclerosis 11 |
|
Somatic sensory dysfunction, Decreased nerve conduction velocity |
OMIM:612577 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Ataxia, EEG abnormality, Decreased sensory nerve conduction velocity, Aplasia/... |
ORPHA:456312 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ... |
ORPHA:93324 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... |
OMIM:314390 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Short stature, Short tibia, Micrognathia, Brachydactyly, Short finger, Cli... |
OMIM:258860 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Sensory ... |
ORPHA:139578 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Mul... |
ORPHA:464329 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Joint stiffness, Tibial bowing, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Narrow ... |
OMIM:608940 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Abnormal tibial metaphysis morphology, Pathologic fractur... |
ORPHA:668 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... |
OMIM:608836 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait, Facial palsy |
OMIM:607684 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Dysmetria, Distal sensory impairment, Optic atrophy,... |
OMIM:612674 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... |
ORPHA:298 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired proprioception, Absent brainstem auditory responses, Decreased number of large periphera... |
ORPHA:101085 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Paresthesi... |
ORPHA:85446 |
Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Dysmetria, Limb ataxia, Dysdi... |
OMIM:603516 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... |
ORPHA:2741 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy |
OMIM:616267 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar ... |
ORPHA:101070 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia, Postnatal growth retar... |
OMIM:614732 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Sensory ataxia, Decreased sensory nerve conduction velocity, Short stature, Decreased motor nerve... |
OMIM:616192 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Severe intrauterine growth retardation, Failure to thrive, Clinodactyly of the 5th finger, Short ... |
ORPHA:231144 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia, Decreased nerve conduction velocity, Short stature |
ORPHA:1933 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... |
ORPHA:3035 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure, Hepatocellular car... |
OMIM:276700 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Gait disturbance, Decreased distal sensory nerve action potential, Impaired distal tactile sensat... |
OMIM:618400 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Disproportionate short-limb short sta... |
OMIM:259420 |
Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Failure to thrive, Decreased nerve conduction velocity, Distal sensory impairme... |
OMIM:616652 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia, C... |
OMIM:613313 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Atelosteogenesis Type Iii |
|
Laryngotracheomalacia, Talipes equinovarus, Absent humerus, Hand clenching, Knee dislocation, Dis... |
ORPHA:56305 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal cementum morphology, Abnormal trabecular bone morphology, Abno... |
ORPHA:83451 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... |
ORPHA:2634 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... |
ORPHA:731 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Inability to walk, Orthostatic hypotension, Peripheral axonal neuropathy, Gait disturbanc... |
ORPHA:2822 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Abnormal motor nerve conduction velocity, Spastic gait, Distal sensory impairment |
ORPHA:100998 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... |
ORPHA:91348 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Failure to thrive, Choreoathetosis, Intrauterine growth retardation, Decreased nerve conduction v... |
ORPHA:319514 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Recurrent fractures, 2-3 toe syndactyly, Osteopenia, Postnatal growth retardation, Joint hyperfle... |
ORPHA:2324 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of thalamus morphology |
OMIM:613724 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormal ... |
ORPHA:485421 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Short stature, Hypothalamic hypothyroidism |
OMIM:275120 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Acroparesthesia, Decr... |
ORPHA:206443 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... |
ORPHA:90117 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed ossification of carp... |
OMIM:600002 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Combined Saposin Deficiency |
|
Optic atrophy, Hepatomegaly, Splenomegaly |
OMIM:611721 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Abnormal adipose tissue morphology, Abnormal hip bone morphology,... |
ORPHA:93160 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated hepatic transaminase, Ca... |
OMIM:617713 |
Cach Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, Limb ataxia, Dysmetria, Primary amenorrhea, ... |
ORPHA:135 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... |
ORPHA:206484 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short statu... |
OMIM:171480 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
Krabbe Disease |
|
Failure to thrive, EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Periphera... |
OMIM:245200 |
Huntington Disease-Like 1 |
|
EEG abnormality, Dysmetria, Chorea, Gait disturbance, Gait ataxia, Cerebellar atrophy, Weight los... |
ORPHA:157941 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Decreased motor nerve conduction velocity, Severe short stature, Peripheral axona... |
OMIM:619851 |
Bruck Syndrome 2 |
|
Talipes equinovarus, Flexion contracture, Short stature, Inguinal hernia, Osteopenia, Femoral bow... |
OMIM:609220 |
Femoral-Facial Syndrome |
|
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Inguinal hernia, Short femur, Sh... |
ORPHA:1988 |
Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia |
OMIM:615960 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, Inability to walk, T2 hypointense thalamus, EEG with generalized epileptiform discharges,... |
ORPHA:1947 |
Neonatal Severe Primary Hyperparathyroidism |
|