Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Aggressive behavior, Fair hair, Gait ataxia |
OMIM:618808 |
Tietz Syndrome |
|
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... |
ORPHA:42665 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... |
OMIM:617280 |
Hidrotic Ectodermal Dysplasia |
|
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... |
ORPHA:189 |
Waardenburg Syndrome, Type 2F |
|
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... |
OMIM:619947 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair |
ORPHA:1410 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:606952 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... |
ORPHA:170 |
Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
Atrial Standstill |
|
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... |
ORPHA:1344 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia |
OMIM:611938 |
Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:607624 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
Pandas |
|
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Ataxi... |
OMIM:256710 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Blue irides, Hypopigmentation of hair |
OMIM:606574 |
Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... |
OMIM:619464 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia |
OMIM:617182 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... |
ORPHA:2885 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Broad-based gait, Hyperactivity, Hypopigmentation of the skin, Polyphag... |
ORPHA:411515 |
Oculocerebral Syndrome With Hypopigmentation |
|
Athetosis, Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia |
OMIM:618782 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Genera... |
ORPHA:33445 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... |
OMIM:611818 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... |
OMIM:600858 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... |
OMIM:616201 |
Brugada Syndrome |
|
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... |
ORPHA:130 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Congestive heart failure, Irritability, Abnormal fear-induced behavior, Broad-based gai... |
ORPHA:3077 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613265 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Woolly h... |
OMIM:610193 |
Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Atax... |
OMIM:277580 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... |
OMIM:193510 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... |
OMIM:608567 |
Albinism, Oculocutaneous, Type Ii |
|
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... |
OMIM:203200 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... |
OMIM:613695 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... |
OMIM:612240 |
Cardiomyopathy, Dilated, 1A |
|
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... |
OMIM:115200 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:619165 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Dysphagia, Bradycardia |
OMIM:620265 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:895 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... |
OMIM:140400 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:2786 |
Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... |
ORPHA:66529 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... |
OMIM:618447 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death |
OMIM:600919 |
Obesity And Hypopigmentation |
|
Red hair, Polyphagia |
OMIM:620195 |
Piebaldism |
|
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... |
ORPHA:2884 |
Hypotrichosis 8 |
|
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... |
OMIM:278150 |
Myopathy, Myofibrillar, 1 |
|
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... |
OMIM:601419 |
Woolly Hair Nevus |
|
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... |
ORPHA:79414 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Hypopigmentation of... |
ORPHA:411511 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Romano-Ward Syndrome |
|
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... |
ORPHA:101016 |
Waardenburg-Shah Syndrome |
|
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... |
ORPHA:897 |
Ermine Phenotype |
|
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... |
OMIM:227010 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... |
ORPHA:79433 |
Congenital Heart Block |
|
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... |
ORPHA:60041 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Polyphagia, Hypopigmentation of hair |
ORPHA:177910 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Irritability, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618235 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Irritability, Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular con... |
OMIM:212138 |
Piebald Trait With Neurologic Defects |
|
White forelock, Ataxia, Absent pigmentation of the ventral chest |
OMIM:172850 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... |
OMIM:614022 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Inability to walk, Hypopigmentation of hair, Hypertrophic cardiomyopath... |
ORPHA:70472 |
Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Dysphagia, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Gait disturbanc... |
ORPHA:100 |
Sudden Cardiac Failure, Infantile |
|
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... |
OMIM:617222 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... |
ORPHA:894 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:614072 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Hypopigmentation of... |
ORPHA:98795 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hyperactivity, Tongue thrusting, Hypo... |
ORPHA:98794 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Bradycardia, Depression, Cardiomyopathy, Gait disturbance, Dysphagia, Arrhythmia |
OMIM:609286 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair, Polyphagia |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair, Polyphagia |
ORPHA:71526 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Depression, Hypopigmentation of the skin, Attention deficit hyperactivi... |
ORPHA:79254 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... |
ORPHA:79435 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Trichorrhexis nodosa, Aggressive behavior, Small nail, Tricuspid regurgitation, Impulsivity, Spar... |
OMIM:261990 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Truncal ataxia, Long eyebrows, Bradycardia |
OMIM:614407 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Bradycardia |
ORPHA:95717 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618815 |
Atrial Standstill 2 |
|
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... |
OMIM:615745 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval |
ORPHA:542306 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Red hair, Hyperactivity, Fair hair |
OMIM:614613 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... |
ORPHA:79432 |
Oculocutaneous Albinism Type 1 |
|
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... |
ORPHA:352731 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair |
ORPHA:2221 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Difficulty walking, Sinus bradycardia, Loss of ambulation, Syncope, Palpitations, Second degree a... |
OMIM:616812 |
Wild Type Attr Amyloidosis |
|
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... |
ORPHA:330001 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Epistaxis, Hematochezia, ... |
OMIM:203300 |
Piebald Trait |
|
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... |
OMIM:172800 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... |
ORPHA:79434 |
Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... |
OMIM:601005 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... |
ORPHA:3214 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:79477 |
Carney Complex, Type 1 |
|
Congestive heart failure, Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesion... |
OMIM:160980 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... |
OMIM:261740 |
Waardenburg Syndrome |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:3440 |
Squalene Synthase Deficiency |
|
Irritability, Abnormality of hair pigmentation |
OMIM:618156 |
Ermine Phenotype |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... |
ORPHA:999 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia |
OMIM:610015 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Tetanus |
|
Tachycardia, Hypertension, Dysphagia, Bradycardia |
ORPHA:3299 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... |
ORPHA:79431 |
Hoyeraal-Hreidarsson Syndrome |
|
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Ataxia, Generalized hyperpigmentati... |
ORPHA:3322 |
Congenital Myopathy 22A, Classic |
|
Bradycardia, Waddling gait, Tricuspid regurgitation, Synophrys, Neonatal death |
OMIM:620351 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... |
OMIM:203100 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Bradycardia |
ORPHA:95716 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Bradycardia, Depression, Jaw claudication, Syncope |
ORPHA:221098 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... |
ORPHA:216694 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Alopecia |
OMIM:610768 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Bradycardia, Atrial fibrillation, Hirsutism, Dysphagia, Tachycardia |
OMIM:613327 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Spontaneous, recurrent epistaxis, Hypopigmentation of... |
OMIM:214500 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Mottled pigmentation, Bradycardia |
ORPHA:226313 |
Muenke Syndrome |
|
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair |
ORPHA:53271 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:618541 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Polyphagia |
OMIM:609734 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:163746 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Glycogen Storage Disease Iv |
|
Cardiomyopathy, Portal hypertension, Bradycardia |
OMIM:232500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618775 |
Hermansky-Pudlak Syndrome |
|
Anorexia, Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypopigmentation of the skin, Ca... |
ORPHA:79430 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Ski... |
ORPHA:398079 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Tip-toe gait, Loss of ambulation, Bradycardia |
ORPHA:565624 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Compulsive beha... |
ORPHA:398069 |
Necrotizing Enterocolitis |
|
Lethargy, Shock, Hypotension, Bradycardia |
ORPHA:391673 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... |
ORPHA:238468 |
Brittle Cornea Syndrome |
|
Pulmonic stenosis, Abnormality of hair pigmentation, Gait disturbance |
ORPHA:90354 |
Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613266 |
Proximal Spinal Muscular Atrophy |
|
Difficulty walking, Inability to walk, Dysphagia, Bradycardia |
ORPHA:70 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... |
ORPHA:98793 |
D-Glyceric Aciduria |
|
Tongue thrusting, Bradycardia |
OMIM:220120 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... |
ORPHA:177901 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depression, Attention deficit hyperactivity disorder, Lethargy, Bradycardia |
ORPHA:90674 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Hypopigmentation of hair, Hyperpigmentation of the skin, Head-banging, ... |
ORPHA:177907 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iri... |
ORPHA:98754 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia, Lethargy,... |
OMIM:277400 |
Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Hypopigmentation of hair, Overfriendliness |
ORPHA:96169 |
Encephalitis Lethargica |
|
Lethargy, Bradycardia |
ORPHA:83600 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Blotching pigmentation of the skin |
OMIM:614653 |
Neuroleptic Malignant Syndrome |
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Agitation, Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Dysphagia, Arrhythmia, Ta... |
ORPHA:94093 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Lethargy, Bradycardia |
ORPHA:90673 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Athetosis, Iris hypopigmentation, Ataxia, Ocular albinism |
ORPHA:2719 |
Chédiak-Higashi Syndrome |
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Inability to walk, Hypopigmentation of hair, Hypopigmentation of the skin, Gait disturbance, Larg... |
ORPHA:167 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Bradycardia |
OMIM:608800 |
Crimean-Congo Hemorrhagic Fever |
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Hematemesis, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorrhage, Myocarditis, Anor... |
ORPHA:99827 |
Sheehan Syndrome |
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Breast hypoplasia, Orthostatic hypotension, Bradycardia, Sparse pubic hair, Sparse axillary hair,... |
ORPHA:91355 |
Syndromic Diarrhea |
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Trichorrhexis nodosa, Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Generalized h... |
ORPHA:84064 |
Vici Syndrome |
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Congestive heart failure, Hypopigmentation of hair, Cardiomyopathy, Hypopigmentation of the skin,... |
OMIM:242840 |
Lujo Hemorrhagic Fever |
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Myocarditis, Bradycardia, Hypotension, Subconjunctival hemorrhage, Dysphagia, Shock |
ORPHA:319213 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Hypertension, Hypopigmentation of the skin, Polyphagia, Attention defic... |
ORPHA:739 |
Sepsis In Premature Infants |
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Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
Degcags Syndrome |
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Premature graying of hair, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Abnormal eyelash ... |
OMIM:619488 |
Marburg Hemorrhagic Fever |
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Anorexia, Aggressive behavior, Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal he... |
ORPHA:99826 |
Bohring-Opitz Syndrome |
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Bradycardia, Inability to walk, Hypertrichosis, Synophrys |
ORPHA:97297 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak |
ORPHA:1974 |
Menkes Disease |
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Gastrointestinal hemorrhage, Hypopigmentation of hair, Woolly hair, Intracranial hemorrhage, Spar... |
ORPHA:565 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Nail dystrophy, Bradycardia, Abnormality of the nail, Anonychia, Dilated cardiomyopathy, Paronych... |
ORPHA:79404 |
3-Methylglutaconic Aciduria, Type Viii |
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Neonatal death, Dysphagia, Bradycardia |
OMIM:617248 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Lethargy, Bradycardia |
OMIM:218700 |
Smith-Lemli-Opitz Syndrome |
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Attention deficit hyperactivity disorder, Self-injurious behavior, Abnormal eyelash morphology, H... |
ORPHA:818 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Lethargy, Bradycardia |
ORPHA:226307 |
Cystinosis, Nephropathic |
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Polydipsia, Hypopigmentation of hair, Hypopigmentation of the skin, Dysphagia, Retinal pigment ep... |
OMIM:219800 |
Yellow Fever |
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Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri... |
ORPHA:99829 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, Pulmonary arterial hypertension, N... |
OMIM:614437 |