Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Gait ataxia, Fair hair, Aggressive behavior |
OMIM:618808 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Oculocerebral Syndrome With Hypopigmentation |
|
Athetosis, Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... |
OMIM:256710 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... |
ORPHA:2885 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Broad-based gait, Hyperactivity, Ataxia, Hypopigmentation of hair, ... |
ORPHA:411515 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Cln3 Disease |
|
Ataxia, Aggressive behavior, Depression, Bradykinesia, Pigmentary retinopathy, T-wave inversion, ... |
ORPHA:228346 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypop... |
ORPHA:33445 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive behaviors, ... |
OMIM:261600 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C... |
ORPHA:3077 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, Ataxia, White eyebrow, Blue irides, Hypopigmented skin patches, Premature grayin... |
OMIM:277580 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Bradycardia, Dysphagia |
OMIM:620265 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Obesity And Hypopigmentation |
|
Red hair, Polyphagia |
OMIM:620195 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Ataxia, White eyebrow, Synophrys, Piebaldism, Hypopigm... |
ORPHA:2884 |
Piebald Trait With Neurologic Defects |
|
Absent pigmentation of the ventral chest, White forelock, Ataxia |
OMIM:172850 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Abnormal eating behavior, Tongue thrusting, I... |
ORPHA:411511 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Irritability, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Polyphagia, Iris hypopigmentation |
ORPHA:177910 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia |
OMIM:616276 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Ataxia, Inability to walk, Congestive heart failure, Dysphagia, Hypertr... |
ORPHA:70472 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Telangiectasia of the skin, Ataxia, Premature graying of hair, Gait dis... |
ORPHA:100 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Hypopigmentation of hair, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm... |
ORPHA:98795 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Hypopigmentation of hair, Abnormal eating behavior, Tong... |
ORPHA:98794 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Depression, Cardiomyopathy, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia |
OMIM:609286 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin, Polyphagia |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin, Polyphagia |
ORPHA:71526 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Tricuspid regurgitation, Impulsivity, Aggressive behavior, Trichorrhexis nodosa, Sinus ... |
OMIM:261990 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Depression, Self-injurious behavior, Attention deficit hyperactivity di... |
ORPHA:79254 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block, Long eyebrows, Truncal ataxia |
OMIM:614407 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Bradycardia |
ORPHA:95717 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... |
OMIM:616812 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Hyperactivity, Fair hair, Blue irides |
OMIM:614613 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Gait disturbance, Multiple cafe-au-lait spo... |
ORPHA:3214 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Carney Complex, Type 1 |
|
Congestive heart failure, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesion... |
OMIM:160980 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Squalene Synthase Deficiency |
|
Irritability, Abnormality of hair pigmentation |
OMIM:618156 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Dysphagia |
ORPHA:3299 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Nail dystrop... |
ORPHA:3322 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia |
OMIM:610015 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Bradycardia |
ORPHA:95716 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Jaw claudication, Depression, Syncope, Bradycardia |
ORPHA:221098 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Tricuspid regurgitation, Synophrys, Bradycardia, Neonatal death |
OMIM:620351 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Ataxia, Silver-gray hair, Ocular albi... |
OMIM:214500 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Dysphagia, Hirsutism |
OMIM:613327 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Mottled pigmentation, Bradycardia |
ORPHA:226313 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Polyphagia |
OMIM:609734 |
Necrotizing Enterocolitis |
|
Shock, Lethargy, Bradycardia, Hypotension |
ORPHA:391673 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Premat... |
ORPHA:163746 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia, Alopecia totalis |
OMIM:618775 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epistaxis, Anorexia, Ocu... |
ORPHA:79430 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Skin-picking, Abnormal temper tantrums, L... |
ORPHA:398079 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Tip-toe gait, Bradycardia |
ORPHA:565624 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Impulsivity, Abnormal temper tantrums, Co... |
ORPHA:398069 |
D-Glyceric Aciduria |
|
Tongue thrusting, Bradycardia |
OMIM:220120 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Brittle Cornea Syndrome |
|
Gait disturbance, Abnormality of hair pigmentation, Pulmonic stenosis |
ORPHA:90354 |
Proximal Spinal Muscular Atrophy |
|
Inability to walk, Bradycardia, Difficulty walking, Dysphagia |
ORPHA:70 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... |
ORPHA:98793 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Bradycardia, Attention deficit hyperactivity disorder, Depression |
ORPHA:90674 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... |
ORPHA:177904 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... |
ORPHA:177901 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Head-banging, Abnormal temper tantrums, S... |
ORPHA:177907 |
Encephalitis Lethargica |
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Lethargy, Bradycardia |
ORPHA:83600 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... |
ORPHA:98754 |
Brittle Cornea Syndrome 1 |
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Red hair |
OMIM:229200 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Abnormality of hair texture, Overfriendliness |
ORPHA:96169 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Tachycardia, Retinal hemorrhage, Hypertension, Blotching pigmentation of the skin, Bradycardia |
OMIM:614653 |
Neuroleptic Malignant Syndrome |
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Tachycardia, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypotension, Dysphagia, Ar... |
ORPHA:94093 |
Prader-Willi Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair, Self-injurious behavior, Frontal upsweep ... |
OMIM:176270 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Epistaxis, Inability to wa... |
ORPHA:167 |
Sheehan Syndrome |
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Orthostatic hypotension, Sparse axillary hair, Sparse pubic hair, Palpitations, Bradycardia, Brea... |
ORPHA:91355 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hemoperit... |
ORPHA:99827 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Ataxia, Ocular albinism, Athetosis, Iris hypopigmentation |
ORPHA:2719 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Bradycardia |
OMIM:608800 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Lethargy, Bradycardia |
ORPHA:90673 |
Syndromic Diarrhea |
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Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-... |
ORPHA:84064 |
Vici Syndrome |
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Hypopigmentation of hair, Albinism, Congestive heart failure, Dilated cardiomyopathy, Ocular albi... |
OMIM:242840 |
Lujo Hemorrhagic Fever |
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Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia |
ORPHA:319213 |
Prader-Willi Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair, Hypertension, Attention deficit hyperacti... |
ORPHA:739 |
Sepsis In Premature Infants |
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Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Marburg Hemorrhagic Fever |
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Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Hypovolemia, Capillary leak, Sub... |
ORPHA:99826 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Tachycardia, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Ab... |
OMIM:619488 |
Bohring-Opitz Syndrome |
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Inability to walk, Synophrys, Bradycardia, Hypertrichosis |
ORPHA:97297 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Menkes Disease |
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Gastrointestinal hemorrhage, Hypopigmentation of hair, Intracranial hemorrhage, Sparse hair, Wool... |
ORPHA:565 |
3-Methylglutaconic Aciduria, Type Viii |
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Neonatal death, Bradycardia, Dysphagia |
OMIM:617248 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Alopecia, Paronychia, Dilated cardiomyopathy, Bradycardia, Nail dystrophy, Anonychia, Abnormality... |
ORPHA:79404 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Lethargy, Bradycardia |
OMIM:218700 |
Cystinosis, Nephropathic |
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Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Pigment... |
OMIM:219800 |
Smith-Lemli-Opitz Syndrome |
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Abnormal eyelash morphology, Self-injurious behavior, Hypopigmentation of hair, Attention deficit... |
ORPHA:818 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Lethargy, Bradycardia |
ORPHA:226307 |
Yellow Fever |
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Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary insufficiency, Bradycardia |
OMIM:614437 |