Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... |
ORPHA:849 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance, Pallor |
ORPHA:79283 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate currents |
OMIM:616321 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Paresthesia, Pallor, Im... |
ORPHA:90064 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia |
OMIM:605899 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ... |
OMIM:614201 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Abnormal peripheral nervous system synaptic transmission, Fatigable weakness, Diff... |
ORPHA:353327 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:254210 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia |
OMIM:238700 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Pallor, Weight loss |
ORPHA:517 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... |
OMIM:261600 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:605809 |
Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Optic Atrophy 1 |
|
Ataxia, Pallor |
OMIM:165500 |
Benign Paroxysmal Torticollis Of Infancy |
|
Ataxia, Pallor |
ORPHA:71518 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Primary Lateral Sclerosis, Juvenile |
|
Loss of ambulation, Pallor, Cerebral cortical atrophy, Spastic gait |
OMIM:606353 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Hypertrophic cardiomyopathy, Failure to thrive, Pallor |
OMIM:613561 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Paresthesia, Pallor, Let... |
ORPHA:49827 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induce... |
OMIM:155100 |
Evans Syndrome |
|
Epistaxis, Syncope, Pallor, Lethargy, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Myasthenic Syndrome, Congenital, 5 |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:603034 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Hyperactivity, Aggressive behavior, Self-injurious behavior, Long eyelashes, T... |
OMIM:618362 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic car... |
ORPHA:276556 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Ataxia, Pallor, Gait disturbance |
ORPHA:29822 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Frontal upsweep of hair, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:300983 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Tachycardia, Increased body weight, Pallor |
ORPHA:276608 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Inability to walk, Chorea, Cerebral atrophy, Neurodegeneration, Decre... |
OMIM:617672 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpitations, Pallor,... |
ORPHA:324575 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:601462 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Ataxia, Pallor, Lethargy |
OMIM:500007 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic car... |
ORPHA:276575 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic car... |
ORPHA:276580 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Leber Congenital Amaurosis 14 |
|
Falls, Pallor |
OMIM:613341 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia |
OMIM:612716 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Decreased miniature endplate potentials |
OMIM:608930 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time, Skin ulcer |
ORPHA:1114 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia |
OMIM:615924 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Telangiectasia of the skin, Retinal telangiectasia, Gait ataxia, Neurodegener... |
ORPHA:438134 |
Gand Syndrome |
|
Sparse hair, Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Pallor, Positive regiti... |
ORPHA:94080 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:187900 |
Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Synophrys, Aggressive behavior |
OMIM:615541 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Weight loss, Intracranial hemorrhage, Pallor, Bruising susceptibility |
ORPHA:3226 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Difficulty walking,... |
OMIM:612319 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis |
ORPHA:382 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... |
ORPHA:248111 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Familial Focal Epilepsy With Variable Foci |
|
Paresthesia, Pallor |
ORPHA:98820 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:608404 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio... |
ORPHA:98818 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Chromosome Xq25 Duplication Syndrome |
|
Sparse eyebrow, Hyperactivity, Thick eyebrow, Highly arched eyebrow |
OMIM:300979 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Chorea, Erythema, Gait disturbance, Pallor, Arrhythmia |
ORPHA:3099 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness of bulbar muscles, Fatiga... |
ORPHA:803 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration |
OMIM:615643 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Hypopigmentation of hair, Inappropriate laughter, Polyph... |
ORPHA:411515 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Chorea, Choreoathetosis, Bradykinesia, Falls, Pallor |
ORPHA:13 |
Dravet Syndrome |
|
Bradykinesia, Progressive gait ataxia, Pallor, Global brain atrophy |
ORPHA:33069 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-a... |
OMIM:271980 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Leishmaniasis |
|
Abnormal bleeding, Pallor, Skin ulcer, Weight loss |
ORPHA:507 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Ataxia, Gait apraxia, Limb ataxia, Dysmetria, Gait ataxia, Bradykinesia, Dysd... |
OMIM:615157 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Bruising susceptibility, Epistaxis, Petechiae |
OMIM:314050 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Neurodegeneration |
OMIM:615889 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Aregenerative Anemia |
|
Abnormal bleeding, Bruising susceptibility, Pallor, Fatigable weakness of skeletal muscles |
ORPHA:101096 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadochokinesis,... |
OMIM:617675 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Decreased miniatur... |
ORPHA:98913 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Ataxia, Pallor, Cerebral atrophy |
OMIM:613839 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive, Pallor |
OMIM:611590 |
Primary Myelofibrosis |
|
Abnormal bleeding, Portal hypertension, Cachexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:188025 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Generali... |
ORPHA:228402 |
Kcnq2-Related Epileptic Encephalopathy |
|
Inability to walk, Pallor, Cerebral atrophy, Facial erythema |
ORPHA:439218 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Tip-toe gait, Pallor |
ORPHA:536516 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Pallor, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Cer... |
OMIM:615491 |
Retinitis Pigmentosa 51 |
|
Pallor, Obesity |
OMIM:613464 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Prolonged miniature endplate currents, Abnormal synaptic transmission at the neuro... |
ORPHA:98915 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Menorrhagia, Br... |
ORPHA:182050 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
Idiopathic Camptocormia |
|
Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic lateral sclerosis, Cere... |
ORPHA:1320 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Cerebral atrophy, Neurodegeneration, Neuronal loss in ... |
OMIM:256600 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Increased body weight, Pallor, Lethargy |
ORPHA:263455 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Congestive heart failure, Vasculitis, Retinal hem... |
ORPHA:33226 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Synophrys, Coarse hair, Dense calvaria, Hirsutism |
OMIM:252920 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Pallor, Positive regiti... |
ORPHA:276621 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity, Synophrys |
OMIM:300143 |
Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... |
ORPHA:49566 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding |
ORPHA:1059 |
Fg Syndrome 3 |
|
Sparse hair, Hyperactivity, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Post-partum hemorrhage, Melena, Oral cavity bleeding, Pallor, Gingival bleeding |
ORPHA:98870 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Cardiac arrest, Dilated cardiomyopathy, Weight loss, Prolonged prothrombin time, Pallor, ... |
ORPHA:20 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis, Pallor |
ORPHA:163596 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Congestive heart failure, Pallor |
ORPHA:75564 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Small for gestational age, Bradycardia, Hypotension, Decreased bo... |
ORPHA:90051 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Bruising susceptibility, Impaired platelet aggregation, Epistaxis |
OMIM:601399 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Cerebral atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Neu... |
ORPHA:391428 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Neurodegeneration, Brain... |
OMIM:214150 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:614074 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Transient ischemic attack, Paresthesia, Myocardial infarction |
ORPHA:3318 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Gingival bleeding, Ecchymosis, ... |
OMIM:203300 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Akinesia, Cerebral atrophy, Bradykinesia, Neurodegeneration |
OMIM:300894 |
American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia |
ORPHA:3386 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Weight loss, Pallor, Failure to thrive |
ORPHA:35858 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Weight loss, Hypertension, Pallor, Hypotension |
ORPHA:134 |
Superficial Siderosis |
|
Abnormal bleeding, Cerebellar atrophy, Ataxia, Subarachnoid hemorrhage, Impaired temperature sens... |
ORPHA:247245 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Macs Syndrome |
|
Prolonged bleeding time, Redundant skin, Cutis laxa, Decreased body weight, Bruising susceptibility |
OMIM:613075 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... |
ORPHA:100924 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Synophrys, Coarse hair, Dense calvaria, Hirsutism |
OMIM:252900 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Failure to thrive, Pallor |
OMIM:600462 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... |
ORPHA:335 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Pallor, Positive regiti... |
ORPHA:29072 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Ataxia, Chorea, Dilated cardiomyopathy, Erythema, Cerebral atrophy, Gait ataxia, Neu... |
OMIM:618321 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Failure to thrive, Neurodegeneration |
OMIM:245200 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Synophrys, Coarse hair, Dysphagia, Dense calvaria, Hirsutism, Hypertrichosis |
OMIM:252930 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... |
ORPHA:449291 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Chorea, Choreoathetosis, Bradykinesia, Neurodegeneration |
OMIM:606159 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Cardiac conduction abnormality, Chorea, Choreoathetosis, Cardiomyopathy, Pallor, Abnormal... |
ORPHA:2131 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage, Weight loss |
ORPHA:69077 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Ataxia, Pallor, Skin ulcer |
ORPHA:822 |
Fanconi Anemia, Complementation Group I |
|
Pallor, Decreased body weight |
OMIM:609053 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90033 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myocarditis, Pulmonary arteri... |
ORPHA:809 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Cardiac arrest, Ventricular tachycardia, Cerebral atrophy, Gait ataxia, Gait disturbance,... |
OMIM:616878 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Self-mutilation |
ORPHA:52503 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility, Small for gestational age |
OMIM:616229 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy, Dysdiadochoki... |
OMIM:610217 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Anemic pallor, Retinal hemorrhage |
ORPHA:86839 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity |
OMIM:608747 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, High-output congestive heart failure, Dilated cardiomyopathy, Skin ... |
ORPHA:231226 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Neurodegeneration, Limb ataxia, Truncal ataxia |
OMIM:300100 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Pallor |
ORPHA:90045 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Cerebellar atrophy, Ataxia, Unsteady gait, Cutaneous telangiectasia,... |
OMIM:615919 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Idiopathic Hypereosinophilic Syndrome |
|
Somatic sensory dysfunction, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary em... |
ORPHA:3260 |
Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer |
ORPHA:231222 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Weight loss, Syncope, Pallor, Hypotension |
ORPHA:98849 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait |
OMIM:207800 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, High-output congestive heart failure, Dilated cardiomyopathy, Skin ... |
ORPHA:231214 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
Sheehan Syndrome |
|
Orthostatic hypotension, Obesity, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemic pallor, Hematochezia |
ORPHA:329971 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Pallor |
ORPHA:331206 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Prolonged bleeding time |
ORPHA:1901 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Erythema, Pallor, Lethargy, Failure to thrive |
OMIM:557000 |
Fumarase Deficiency |
|
Failure to thrive, Pallor, Cerebral atrophy |
OMIM:606812 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Hyperactivity, Nail dystrophy, Emotional lability, Self-mutilation |
OMIM:256800 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Central nervous system degeneration, Ischemic stroke, Neurodegeneration |
ORPHA:447788 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration |
OMIM:616239 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Broad-based gait, Gait disturbance, Difficulty walking |
ORPHA:79244 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia, Thick eyebrow |
OMIM:620047 |
Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Ataxia, Neurodegeneration, Gait disturbance, Bruising susceptib... |
OMIM:214500 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Ataxia, Gait disturbance, Neurodegeneration, Loss of ambulation |
OMIM:614298 |
Multiple System Atrophy 1, Susceptibility To |
|
Bradykinesia, Orthostatic hypotension, Ataxia, Neurodegeneration |
OMIM:146500 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor |
OMIM:266200 |
Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Small for gestational age, Anemic pallor |
OMIM:600901 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Retinal hemorrhage |
OMIM:308300 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Palpitations, H... |
ORPHA:91347 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Ataxia, Difficulty walking |
OMIM:618476 |
Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Small for gestational age, Anemic pallor |
OMIM:227650 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Epistaxis, Hematemesis, Large vessel vasculitis, Melena, Gingival bleedi... |
OMIM:301000 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Increased circulating thyroglobulin level |
OMIM:609152 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... |
ORPHA:99827 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy |
ORPHA:478029 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation |
OMIM:608233 |
Fanconi Anemia, Complementation Group C |
|
Bruising susceptibility, Small for gestational age, Anemic pallor |
OMIM:227645 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Dys... |
ORPHA:99826 |
Esophageal Atresia |
|
Pallor, Small for gestational age, Failure to thrive in infancy |
ORPHA:1199 |
Hellp Syndrome |
|
Cerebral hemorrhage, Increased body weight, Prolonged prothrombin time, Hypotension, Internal hem... |
ORPHA:244242 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Choreoathetosis, Bradykinesia, Gait disturbance, Neurodegeneration, Cerebral de... |
OMIM:234200 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Pallor, Failure to thrive, Tricuspid stenosis |
OMIM:105650 |
Diamond-Blackfan Anemia |
|
Lethargy, Small for gestational age, Pallor |
ORPHA:124 |
Degcags Syndrome |
|
Tachycardia, Small for gestational age, Pallor, Pulmonic stenosis, Pulmonary arterial hypertensio... |
OMIM:619488 |
Fanconi Anemia, Complementation Group D2 |
|
Bruising susceptibility, Small for gestational age, Anemic pallor |
OMIM:227646 |
Mucopolysaccharidosis, Type Ii |
|
Congestive heart failure, Neurodegeneration |
OMIM:309900 |
Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Neurodegeneration |
OMIM:607014 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Bruising susceptibility, Pallor |
ORPHA:667 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Pallor, Hypertensive crisis |
ORPHA:544482 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral regurgitation, Abnorma... |
ORPHA:287 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Broad-based gait, Ataxia, Overweight, Congestive heart failure, Obesity, He... |
OMIM:619475 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Neurodegeneration |
OMIM:253220 |
Goodpasture Syndrome |
|
Weight loss, Pallor, Pulmonary hemorrhage |
OMIM:233450 |
Yellow Fever |
|
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... |
ORPHA:99829 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Neurodegeneration |
OMIM:251260 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time, Tachycardia |
OMIM:618280 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
Tuberous Sclerosis Complex |
|
Hypertension, Internal hemorrhage |
ORPHA:805 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Redundant skin, Renovas... |
ORPHA:286 |
Primrose Syndrome |
|
Neurodegeneration, Truncal obesity, Ataxia |
OMIM:259050 |