| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Autism, Susceptibility To, X-Linked 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300425 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Thrombocytopenia, Intention ... |
OMIM:610539 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
| Autism |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:607373 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations |
OMIM:615048 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
| Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia, Fascicul... |
ORPHA:309169 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Tre... |
ORPHA:94093 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... |
OMIM:617021 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Inguinal hernia, Incoordination, Ataxia, Ventr... |
OMIM:614947 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Hy... |
ORPHA:2169 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Ventricular arrhythmia, Depression, Abnormal left... |
ORPHA:36913 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Tremor, Impaired myocardial contractility, Respiratory paralysis, Pe... |
ORPHA:79102 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat... |
ORPHA:48818 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Failure to thrive, Transient ischemic attack, Elevated circulating creatine kinase ... |
ORPHA:365 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
| Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Akinesia, Limb apraxia, Tremor, Involuntary movement... |
ORPHA:454887 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Eyelid myoclonus, Increased m... |
OMIM:613839 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, F... |
ORPHA:137675 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... |
OMIM:615924 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... |
ORPHA:216873 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... |
ORPHA:276435 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomy... |
OMIM:620270 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Cellulitis, Lymphadeni... |
OMIM:618986 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... |
ORPHA:521406 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, E... |
OMIM:612126 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil... |
ORPHA:673 |
| Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
OMIM:607115 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Spasticity, Unsteady gait, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... |
OMIM:603909 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Fatiguable weaknes... |
ORPHA:90117 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tetralogy of Fallot, Mitra... |
OMIM:612561 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... |
OMIM:615558 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Methylmalonic ac... |
OMIM:277410 |
| Huntington Disease-Like 1 |
|
Restlessness, Abnormal head movements, Incoordination, Involuntary movements, Chorea, Slurred spe... |
ORPHA:157941 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... |
ORPHA:52368 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:608636 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Congenital sensorineural hearing impairment, Elevated circulating cre... |
OMIM:617872 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Elevated circulating creatine kinase concentration, Facial palsy, Flexion contractu... |
OMIM:253600 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
| Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Abnormal circulating calcium concentration, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... |
ORPHA:231226 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Lower limb spasticity, Foot joint contracture, Scarring, Ataxi... |
ORPHA:90321 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Optic atrophy, Hyperammonemia, Choreo... |
ORPHA:289916 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Broad-based gait, Hyperactivity, Lower limb spasticity, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Autism, Susceptibility To, X-Linked 2 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300495 |
| Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Distal renal tubular acidosis, Hepatosp... |
OMIM:611590 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic t... |
ORPHA:599373 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Blepharospasm, S... |
ORPHA:240094 |
| Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Congestive heart failure, Optic atrophy, Hypercalciuria, Depression, Fatigable we... |
ORPHA:428 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Failure to thrive, Hearing ... |
OMIM:617052 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... |
ORPHA:251004 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp... |
OMIM:618387 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Hand tremor, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia |
ORPHA:26137 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Conductive hearing impairment... |
ORPHA:443811 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... |
ORPHA:98870 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Optic atrophy, Hyperammonemia, Choreoat... |
ORPHA:27 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Loss of ambulati... |
ORPHA:206443 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarction, Tremor, Hemolytic... |
OMIM:274150 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon... |
ORPHA:94090 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic atta... |
ORPHA:183 |
| Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Aggressive behavior, EEG abnormality, Inappropriate laughter, Bruxism, Abnormal repetit... |
OMIM:619150 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Involuntary movements, Sensorineural hearing impairment, Obesi... |
ORPHA:79443 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, High-frequency sensorineural hearing impairment, Tremor, Inability to walk, Sensor... |
ORPHA:2590 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis... |
OMIM:618278 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Ataxia, Eosinophil... |
OMIM:615816 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent i... |
ORPHA:169160 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Irritability, Chvostek sign, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seiz... |
OMIM:146200 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,... |
ORPHA:96180 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal ... |
OMIM:618718 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619301 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:229050 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Low... |
ORPHA:94089 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619302 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria,... |
OMIM:604273 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,... |
ORPHA:98849 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Eosinophi... |
OMIM:616651 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... |
OMIM:616269 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia, ... |
OMIM:617303 |
| Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia |
OMIM:261630 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy... |
ORPHA:251282 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperpho... |
OMIM:145600 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Falls, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutrop... |
ORPHA:79312 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume,... |
OMIM:127550 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Pigmentary retinop... |
OMIM:614307 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
| Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Spastic diplegia, Abnormality of circulatin... |
ORPHA:3124 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Obesity, Depression, Irritability, Hyperphosphatemia, Hypocalc... |
ORPHA:79444 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Horseshoe kidney, In... |
OMIM:612562 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Methylmalonic aciduria, Hyperhomocyst... |
OMIM:614857 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Ane... |
OMIM:159550 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
| Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
| Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Left ventricular hypertrophy, Aggressive behavior, Vacu... |
ORPHA:228346 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Hypercalcemia, Eosin... |
ORPHA:199299 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Protruding ear, Mitral... |
ORPHA:261250 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephr... |
ORPHA:39041 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Hyperlysinuria, Anemia |
OMIM:238700 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hand tremor, Tetraplegia, Gait disturbance, Fasciculations, Hyperglycemia, Mildly... |
OMIM:604484 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Spasticity, Thrombocytopenia, Dystonia |
OMIM:610329 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
EEG abnormality, Self-injurious behavior, Abnormal repetitive mannerisms, Dystonia |
OMIM:617820 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, T... |
OMIM:208920 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, EEG abnormality, Pr... |
OMIM:239500 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Acute kidney injury, Ataxia, Elevated circulating creatine kinase concentr... |
ORPHA:466650 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Ataxia, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
| Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Neutropenia, Atrial septal defect, Lethargy... |
ORPHA:124 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Rod-cone dystrophy, Spasticity, Opist... |
ORPHA:216866 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Hyperactivity, Ataxia, Elevated circulating cre... |
OMIM:615673 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre... |
OMIM:128100 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ... |
OMIM:224120 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili... |
OMIM:617237 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Insulin-resistant diabetes mellitus, Chorea, Optic... |
ORPHA:401768 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... |
ORPHA:99027 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... |
ORPHA:210128 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Attention deficit hyperactivity disorder |
OMIM:615401 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, St... |
OMIM:613280 |
| Peroxisome Biogenesis Disorder 3B |
|
Ataxia, Retinal dystrophy, Elevated circulating phytanic acid concentration, Steatorrhea, Rod-con... |
OMIM:266510 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Tremor, Sensorineural hearing impairment, Hypertension, Nephrotic syndrome, Hyperton... |
ORPHA:1192 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... |
OMIM:609425 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Difficulty wal... |
OMIM:159950 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Spinocerebellar Ataxia 21 |
|
Postural tremor, Ataxia, Akinesia, Parkinsonism, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro... |
OMIM:607454 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... |
OMIM:603552 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Hand tremor, Dysphagia |
OMIM:617862 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
ORPHA:206594 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Portal hypertension, Cholangitis, Hepatic cysts, Pancreatic ... |
ORPHA:284 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Ataxia, Cardiac arrest, Tremor, Low-set ears, Failure to thrive |
OMIM:618951 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... |
OMIM:300908 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Hypermanganesemia With Dystonia 2 |
|
Limb dystonia, Generalized dystonia, Hypermanganesemia, Elevated circulating creatine kinase conc... |
OMIM:617013 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... |
ORPHA:447 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Abnormal pinna morphology, Aggressive behavior, Tremor, Optic atrophy, Spa... |
OMIM:300983 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... |
ORPHA:231214 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... |
OMIM:246700 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... |
OMIM:301107 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... |
OMIM:612716 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ... |
OMIM:128235 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Abnormal pyramidal sign, Renal tubular dys... |
ORPHA:213 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Ataxia, Abnormal central motor function... |
ORPHA:760 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia... |
OMIM:304790 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Hemiplegia, Decreased proportion of C... |
OMIM:243700 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Lower limb spasticity, Abnormal pyramidal sign, Optic atrophy, Progressive cerebell... |
ORPHA:1177 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Involuntary movements, Tremor, Inability to walk, Tongue thrusting, Limb my... |
ORPHA:3095 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Macular deg... |
ORPHA:247234 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Gait ... |
ORPHA:225147 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Leukopenia, Hypoalbuminemia, Hernia, Atrial septal defect, Patent foramen ov... |
ORPHA:505248 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Restless legs, Rigidity, Depression, Bradykinesia, Gait ... |
OMIM:616710 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia |
ORPHA:94086 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Anorexia, Megaloblastic anemia, F... |
ORPHA:90045 |
| Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Depression, Progressive c... |
ORPHA:248111 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Cardiac arrest, Myocarditis, Hepatitis, Lymphadenopathy, Weigh... |
ORPHA:139402 |
| Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Abnormal optic nerve morphology, Macular dys... |
ORPHA:33445 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Elevat... |
OMIM:619644 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... |
OMIM:164500 |
| Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Retinal dystrophy, Tremor, Unsteady gait, Elevated circulating phytanic acid concentratio... |
OMIM:614867 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnorma... |
ORPHA:100924 |
| Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
| Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Cellulitis |
ORPHA:3165 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Abscess, Eosinophilia, Hepatic cysts, Abnormality o... |
ORPHA:400 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Urinary incontinence, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemi... |
OMIM:613179 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Inability to walk, Hypereosinophilia,... |
ORPHA:508533 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Hypoglycemia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertoni... |
OMIM:617710 |
| Mohr-Tranebjaerg Syndrome |
|
Dystonia, Tremor, Spasticity, Postlingual sensorineural hearing impairment, Dysphagia, Progressiv... |
OMIM:304700 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Wells Syndrome |
|
Vasculitis, Eosinophilia, Cellulitis |
ORPHA:901 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spastic paraparesis |
ORPHA:101077 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
| Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... |
ORPHA:699 |
| Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... |
ORPHA:3260 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Eosinophilia |
OMIM:618523 |
| Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Eosinophilia, Dysphagia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Eosinophilia, Dysphagia |
OMIM:610247 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Lower limb spasticity, Optic disc pallor, Akinesia, Optic neuropathy, Abnormal pyramidal sign, Op... |
OMIM:618249 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of the liver, Hyp... |
ORPHA:85443 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... |
OMIM:608836 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity |
OMIM:603233 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Flexion contracture, Optic atro... |
OMIM:609260 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Landau-Kleffner Syndrome |
|
Speech apraxia, Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsi... |
ORPHA:98818 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr... |
OMIM:609628 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxia, Parkinsonism, Ob... |
OMIM:300055 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... |
OMIM:605899 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Pseudohypoparathyroidism, Type Ic |
|
Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, ... |
OMIM:612462 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Blepha... |
OMIM:606159 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Macular scar, Hydroxyprolinemia, Sensorineural hearing i... |
OMIM:239000 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... |
ORPHA:240103 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
| Optic Atrophy 11 |
|
Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Splen... |
OMIM:617302 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... |
OMIM:616881 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... |
ORPHA:230 |
| Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis,... |
ORPHA:391417 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Right hemiplegia, Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Recur... |
OMIM:607426 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoalbuminemia, ... |
ORPHA:14 |
| Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
| Manganese Poisoning |
|
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma... |
ORPHA:306682 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Membranous... |
OMIM:618999 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Ankle clonus, ... |
OMIM:617435 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess |
OMIM:618282 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr... |
ORPHA:3240 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia |
ORPHA:330050 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Hearing ... |
ORPHA:208441 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia, Low-set ears, Micropenis, Hypocalcemic... |
OMIM:241410 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
| Hartnup Disorder |
|
Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional l... |
OMIM:234500 |
| Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, EEG with spike-wave complexes, Aggressive... |
ORPHA:228360 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventricular tachycardia, Cardi... |
ORPHA:423 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Tremor, Steatorrhea, Dysmetria, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Rod... |
OMIM:212065 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:618598 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Pseudohypoparathyroidism, Type Ia |
|
Obesity, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic t... |
OMIM:103580 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... |
ORPHA:66624 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait |
OMIM:600363 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy |
OMIM:619690 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101075 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Sp... |
OMIM:615157 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Hype... |
OMIM:261640 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Chorea, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Chorea, Abnormal pyramidal si... |
ORPHA:500180 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Akinesia, Involuntary movements, Rigidity, Babinski sign, Abno... |
ORPHA:97349 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... |
OMIM:619028 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Tachycardia, Rigidity, Opisthotonus, Depression, Hypertension, Myoc... |
OMIM:184850 |
| Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... |
OMIM:102700 |
| Aspergillosis |
|
Abnormality of the kidney, Eosinophilia, Hepatitis, Intracranial hemorrhage, Neutropenia |
ORPHA:1163 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Irritability, Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Ataxia, Proteinuria, Anorexia, Splenomegaly, Myo... |
ORPHA:549 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, EEG with continuous slow ... |
ORPHA:275864 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Spastic parapl... |
OMIM:609541 |
| Baker-Gordon Syndrome |
|
Choreoathetosis, EEG abnormality, Self-injurious behavior, Dystonia, Abnormal repetitive mannerisms |
OMIM:618218 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Rigidity, Falls, Difficulty walking |
ORPHA:3198 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
| Orotic Aciduria |
|
Failure to thrive, Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unre... |
OMIM:258900 |
| Incontinentia Pigmenti |
|
Telangiectasia of the skin, Eosinophilia, Abnormal dental enamel morphology, Camptodactyly of fin... |
ORPHA:464 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Int... |
OMIM:254900 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Dysphagia, Clumsine... |
ORPHA:79263 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... |
OMIM:239200 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Sens... |
OMIM:222300 |
| H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Abnormality of the kidney, Hearing impairment, Microcytic an... |
ORPHA:168569 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... |
OMIM:612541 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
| Propionic Acidemia |
|
Pancytopenia, Dystonia, Hypoglycemia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:606054 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Autism, Susceptibility To, 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:608049 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Ketonuria, Ataxia, Elevated circulating creatine kinase conc... |
ORPHA:480864 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Telangiectasia of the skin, Ataxia, Tremor, Gait disturbance, Spasticity, Lymp... |
ORPHA:100 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Hyperphenylalaninemia, Limb ... |
OMIM:233910 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... |
ORPHA:240085 |
| Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Optic atrophy, Dysmetria, Hypoplastic optic chiasm,... |
OMIM:210000 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity,... |
ORPHA:621 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Papilledema, Small for gestational age, Hyperphosphatemia, Hypocalcem... |
OMIM:127000 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Iron deficiency anemia, Tubulointerstitial nep... |
ORPHA:358 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Achilles tendon c... |
OMIM:302800 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... |
OMIM:608643 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101078 |
| Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Abnormal dental enamel morphology, Extern... |
ORPHA:2323 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bon... |
OMIM:256550 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Lower limb spasticity, Hypoplasia of penis, Ataxia, Repetitive compulsive ... |
ORPHA:66634 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Urinary incontinence, Optic nerve hypoplasia,... |
ORPHA:101085 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ... |
OMIM:617101 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
| Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Increased circulating farnesol concentration, Decreased LDL cholesterol c... |
OMIM:618156 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Raynaud phenomen... |
ORPHA:227510 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Spasticity, Thrombocytopenia |
OMIM:610333 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Atrophic scars, I... |
OMIM:182410 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Leukocytosis, Myocarditis, Hypovolem... |
ORPHA:31824 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Hypertension, Pro... |
ORPHA:97229 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Frequ... |
OMIM:616719 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:214700 |
| Cog4-Cdg |
|
Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Limb hypertonia |
ORPHA:263501 |
| Rasmussen Subacute Encephalitis |
|
Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Increased theta frequency ... |
ORPHA:1929 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Head tremor, Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Rigidity, Babinski sign, Inappropriate b... |
OMIM:600795 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Myocardial infarction, Tremor, Overweight, Depression, Hyperkinetic movements, Gait disturbance, ... |
ORPHA:457240 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Atrial fibrillation, Tremor, Splenomegaly, Congestive heart failure,... |
ORPHA:525731 |
| Oculopharyngodistal Myopathy 3 |
|
Tremor, Pigmentary retinopathy, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:619473 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low... |
OMIM:618342 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Elevated circulating creatine kinase concentration, Sudden cardiac death, First de... |
OMIM:310300 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim... |
ORPHA:2388 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... |
OMIM:603553 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Spastic tetraparesis, Cardiomegaly, Poor coordination, Optic atrophy, Spastic diple... |
ORPHA:391428 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy |
ORPHA:71 |
| Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Elevated circulating creatine kinase concentratio... |
OMIM:612953 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, A... |
ORPHA:96 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, Myoclonus, EEG with focal sharp slow ... |
ORPHA:2382 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Retinal dystrophy,... |
ORPHA:713 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Urinary incontinence, Tremor, Rigidity, Syncop... |
OMIM:603472 |
| Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Nephropathy, Flexion contracture, Um... |
ORPHA:87876 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Ellipto... |
OMIM:616959 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
| Thyrocerebrorenal Syndrome |
|
Slurred speech, Nonprogressive cerebellar ataxia, Thrombocytopenia, Myoclonus |
ORPHA:3327 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... |
OMIM:604250 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
| Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi... |
OMIM:616267 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive meg... |
OMIM:249270 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
| Tyrosinemia, Type I |
|
Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly, Periodic paraly... |
OMIM:276700 |
| Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease, Cellulitis |
ORPHA:280062 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:616050 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight ... |
ORPHA:449400 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Hypospadias, Sudden cardiac death, C... |
OMIM:610198 |
| Preeclampsia |
|
Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Unsteady gait, Abnormal pyramidal sign, Bab... |
OMIM:616795 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
| N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Ataxia, Increased level of gamma-aminobuty... |
OMIM:271980 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality... |
ORPHA:464329 |
| Immunodeficiency 50 |
|
Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Choreoathetosis, Bilateral sensorineural heari... |
OMIM:619422 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Hypospadias, Abnormal eating behavior, Tremor, Anteverted ears, Macrotia, Poor coordinati... |
ORPHA:544254 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... |
ORPHA:99745 |
| Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Tremor, Head ... |
OMIM:312080 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Incoordination, Elevated circulating creatinine concentrati... |
OMIM:223900 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu... |
OMIM:608799 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk... |
ORPHA:268 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
| Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, EEG abnormality, Truncal ataxia, Abnormal... |
OMIM:312750 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
| Igg4-Related Pachymeningitis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Paraparesis, ... |
ORPHA:449427 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Unilateral renal agenesis, Optic atrophy, Hyperphosphatemia, Hearing i... |
OMIM:101800 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Neonatal hypoglycemia, Tremor, Neutropenia, Opisthotonus, Choreoathetosis, Leukopenia, Hy... |
OMIM:616271 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent... |
ORPHA:160 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Inguinal hernia, Aggressive behavior, Chorea, Unsteady gait... |
ORPHA:485350 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Inguinal hernia, Hepatomegaly, Ataxia, Abnormality of the kidney, Optic atrophy, Dy... |
ORPHA:93400 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... |
OMIM:619313 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance |
ORPHA:99014 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Splenomegaly, Hyperlipi... |
OMIM:232220 |
| Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Abnormal ... |
ORPHA:79277 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ... |
OMIM:234200 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Abnormality of extrapyramidal mot... |
ORPHA:320406 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul... |
ORPHA:797 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inabilit... |
OMIM:208900 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Vici Syndrome |
|
Atrial septal defect, Failure to thrive, Left ventricular hypertrophy, Elevated circulating creat... |
OMIM:242840 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells |
OMIM:620282 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia, Inability to walk, Chore... |
OMIM:617864 |
| Sandifer Syndrome |
|
Abnormal head movements, Torticollis, Hiatus hernia, Hematemesis, Abnormal posturing, Anemia |
ORPHA:71272 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:313200 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment |
OMIM:614896 |
| Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Spasticity, Gait ataxia, Myoclonus, Left ventricular hypertrophy, Crouch gait, Fai... |
OMIM:620145 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Akinesia, Spastic tetraplegia, Hypochromic microcytic anemia, Hypertoni... |
OMIM:619147 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... |
OMIM:614298 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:300376 |
| Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence... |
ORPHA:157946 |
| Cystathioninuria |
|
Tremor, Cystathioninemia |
ORPHA:212 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Hyperala... |
OMIM:312170 |
| Nathalie Syndrome |
|
Abnormal EKG, Hearing impairment |
OMIM:255990 |
| Coccidioidomycosis |
|
Pericarditis, Renal insufficiency, Eosinophilia, Abscess, Abnormality of the kidney, Abnormality ... |
ORPHA:228123 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... |
ORPHA:85445 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Optic atrophy, Clumsiness, ... |
ORPHA:137898 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia |
OMIM:607765 |
| Griscelli Syndrome |
|
Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Bone marrow hypocellularity, Spasti... |
ORPHA:381 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas... |
ORPHA:352649 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Head titubation, Inability to walk, Rigidity, Truncal ataxia, Gait ataxia, ... |
OMIM:618877 |
| Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Thrombocytopenia |
OMIM:231000 |
| Overlap Myositis |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Leukopenia, Tetraparesis, ... |
ORPHA:206572 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... |
OMIM:214500 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Chronic kidney dise... |
ORPHA:330015 |
| Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Urinary incontinence, Parkinsonism, Hearing impairment, Dysmetri... |
OMIM:300623 |
| Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Splenomegaly, Increased urinary... |
ORPHA:812 |
| Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Urinary incontinence... |
OMIM:268800 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Xan... |
OMIM:277460 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Anemia |
ORPHA:93325 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autono... |
ORPHA:329284 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Attention deficit hyperactivity... |
OMIM:619556 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Hypertonia, Myoclonus, Low-set ears, Overfolded h... |
OMIM:619092 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ... |
ORPHA:282166 |
| Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... |
ORPHA:293173 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Neutropenia, Thromb... |
OMIM:598500 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Spasticity, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Abnormal circulating lipid concentration, Ataxia, Broad-based gait, Unilateral r... |
OMIM:616541 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Abnormality of the outer ear, Self hugging, Head-banging, EEG abnormality, Onychot... |
OMIM:182290 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal si... |
OMIM:607483 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Cor pulmonale, Melena, Hematuria, Corneal neovascularization, Hearing impairment |
OMIM:158310 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo... |
ORPHA:158048 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:613090 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Attention deficit ... |
OMIM:617182 |
| Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Chorea, Babi... |
ORPHA:157846 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance |
OMIM:118300 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Hypsarrhythmia, Hearing impairment |
OMIM:619877 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Compulsive behaviors, Dystonia, Abnormal repetitive mannerisms, Stereoty... |
OMIM:618917 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Thyrocerebroretinal Syndrome |
|
Slurred speech, Ataxia, Myoclonus, Thrombocytopenia |
OMIM:274240 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Anemia, Hepatocel... |
ORPHA:79259 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Nephrolithiasis, Choreoathetosis... |
OMIM:620023 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Leukopenia, 3-Methylglutaric aciduria, Lethargy, Hepatomegaly, Ketonuria, Ataxia, Spast... |
ORPHA:20 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Tremor, Increased body weight, Agitation, Pancreatic islet-cell hyperplasia, Lethargy |
ORPHA:276608 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts |
OMIM:617425 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, Ab... |
ORPHA:2131 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
| Rhabdoid Tumor |
|
Cerebral palsy, Hypercalcemia, Anemia, Hemiplegia, Thrombocytopenia |
ORPHA:69077 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Loss of ambul... |
OMIM:607694 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Ataxia, Elevated cir... |
ORPHA:42 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:529808 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Renal artery ane... |
OMIM:615688 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
| Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart... |
OMIM:310200 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal pyramidal sign, Abnormal motor evoked potentials, Ataxia, Parkinsonism, Depression, Gait... |
ORPHA:909 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
| 4H Leukodystrophy |
|
Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit... |
ORPHA:289494 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... |
ORPHA:309854 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Rett Syndrome |
|
Increased serum pyruvate, Limb apraxia, Inability to walk, Hyperammonemia, Bradykinesia, EEG abno... |
ORPHA:778 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, EEG with generalized epileptifo... |
OMIM:619827 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block... |
ORPHA:398124 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ... |
OMIM:251100 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Clonus, Oligosacchariduria, Nephrocalcinosis, Protruding ear, Aminoaciduria, Compu... |
ORPHA:534 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Urinary incontinence, Parkinsonism, Tremor, Decreased nerve conduction velocity, Depression, Card... |
ORPHA:329478 |
| Cockayne Syndrome A |
|
Tremor, Micropenis, Loss of facial adipose tissue, Hepatomegaly, Ataxia, Gait disturbance, Hip co... |
OMIM:216400 |
| Foxg1 Syndrome |
|
Dystonia, Choreoathetosis, Bruxism, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter... |
ORPHA:561854 |
| Infantile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve ... |
ORPHA:206436 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi... |
ORPHA:352490 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Abnormal pinna morphology, Small for gestational age, Fail... |
OMIM:614104 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Hypertonia, Hyp... |
OMIM:619738 |
| Gm1 Gangliosidosis |
|
Tremor, Decerebrate rigidity, Ataxia, Hepatosplenomegaly, Cardiomyopathy, Gait disturbance, Low-s... |
ORPHA:354 |
| Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns... |
ORPHA:1942 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis |
OMIM:247800 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Ataxia, Proteinuria, Mesangial hypercellularit... |
OMIM:617575 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, T... |
OMIM:251000 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Carnosinuria, Cardiomyopathy |
OMIM:309930 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, EEG with spike-wave complexes, Tremor, Bradykinesia, Poor fine motor coor... |
ORPHA:36387 |
| Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Recurrent hypoglycemia, B lymphocytopenia, Hypoalbuminemia, Hyp... |
ORPHA:79324 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Atrial septal defect, Ventricular septal defect, Eosinop... |
OMIM:274000 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
| Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Tr... |
ORPHA:94080 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotion... |
ORPHA:542310 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia... |
OMIM:618048 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Spasticity, Hypocholesterolemia |
OMIM:618810 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Ataxia, Impulsivity, Spastic tetraparesis, Unsteady gait, Flexion contracture, Abn... |
ORPHA:35069 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Urinary incontinence, P... |
ORPHA:206448 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Shuffling gait, Dystonia, Parkins... |
ORPHA:411602 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Low-set ears, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged... |
OMIM:613885 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Macrotia, Irritability, Lymphopenia, Abnormal repetitive mann... |
ORPHA:391307 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Enam... |
OMIM:264700 |
| Ogden Syndrome |
|
Abnormal head movements, Torticollis, Inguinal hernia, Ventricular septal defect, Hypertonia, Shu... |
ORPHA:276432 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Angiostrongyliasis |
|
Irritability, Hypereosinophilia |
ORPHA:74 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Spasticity, Myoclonus |
OMIM:618201 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... |
ORPHA:101028 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Failure to thrive, Absence of lymph node germinal center, T lymphocytope... |
ORPHA:277 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Hyperkalemia, Pa... |
OMIM:617053 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... |
ORPHA:247585 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Cerebral palsy, Ataxia, Lower limb spasticity, Aggressive behavior, ... |
ORPHA:163681 |
| Developmental And Epileptic Encephalopathy 6B |
|
Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Choreoathetosis, Dys... |
OMIM:619317 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Irritability, Difficulty walking, Hypophosphatemia, Enamel hypoplasia, Failure to thrive, Hypocal... |
OMIM:277440 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Failure to thrive, Tre... |
OMIM:615512 |
| Christianson Syndrome |
|
Dysphagia, Inappropriate laughter, Dystonia, Macrotia, Abnormal repetitive mannerisms |
ORPHA:85278 |
| Netherton Syndrome |
|
Failure to thrive, Hypereosinophilia |
OMIM:256500 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Tremor, Methylmalonic aciduria, Dysmetria, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Thrombocytopenia |
ORPHA:49827 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk... |
OMIM:600430 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ... |
ORPHA:3299 |
| Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen |
OMIM:223360 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... |
OMIM:241530 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, EEG with generalized slow activity, Ataxia, EEG with spike-wave complexes, Aggress... |
ORPHA:168491 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Ataxia, Hyperammonemia |
ORPHA:79242 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Aminoaciduria, Hypoalbumi... |
OMIM:277900 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Steppage gait, Hypertonia, ... |
OMIM:616505 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Ataxia, Elevated circulating creatine kinase co... |
OMIM:610377 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Cardiom... |
OMIM:252500 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Neonatal hypoglycemia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Difficulty walk... |
ORPHA:572798 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Ataxia, Proteinuria, Abno... |
OMIM:133540 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Cellulitis |
ORPHA:2314 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Supravalvular aort... |
OMIM:618624 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, EEG with abnormally sl... |
ORPHA:98794 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Hypertonia, Spastic tetraplegia, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Inguinal hernia, Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Pulmo... |
OMIM:620141 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... |
ORPHA:411986 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:238750 |
| Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Congenital diaphragmatic hernia, Aggressive behavior, Tremor, Spas... |
OMIM:300978 |
| Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Abnormal synaptic transmission, Blepharo... |
ORPHA:683 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Heparan sulfate exc... |
OMIM:252920 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,... |
OMIM:617675 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhy... |
ORPHA:457351 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Speech apraxia, Broad-based gait, Aganglionic megacolon, Aggressive behavi... |
OMIM:300352 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
| Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas... |
ORPHA:1830 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Dpagt1-Cdg |
|
Tremor, Flexion contracture, Intracranial hemorrhage, Hypertonia, Diffuse optic disc pallor, Hepa... |
ORPHA:86309 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Incontinentia Pigmenti |
|
Scarring, Eosinophilia, Leukocytosis, Optic atrophy, Retinal hemorrhage, Spasticity |
OMIM:308300 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age, Tremor, Abnormal circulating f... |
ORPHA:263455 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leu... |
OMIM:618886 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Tremor, Splenomegaly, Lymphadenopathy, Hypocal... |
ORPHA:667 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... |
OMIM:617808 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... |
ORPHA:730 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration... |
ORPHA:157215 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Portal hypertens... |
OMIM:609136 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Glycosuria, Aminoaciduria, Hypophospha... |
OMIM:618913 |
| Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Dysphagia, A... |
ORPHA:94125 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Abnormality of the liver... |
ORPHA:254892 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Increased theta frequency activity in EEG, EEG with focal spikes, Attention ... |
ORPHA:98784 |
| Brain-Lung-Thyroid Syndrome |
|
Chorea, Abnormal drinking behavior, Choreoathetosis, Compulsive behaviors, Vesicoureteral reflux,... |
ORPHA:209905 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
| Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Spasticity, Hypertonia, Thrombocytopenia |
OMIM:616577 |
| Alg9-Cdg |
|
Large fleshy ears, Right ventricular dilatation, Abnormal left ventricular outflow tract morpholo... |
ORPHA:79328 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ... |
OMIM:617695 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Fatiga... |
ORPHA:99901 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Optic atrophy, Dysphagia, Horseshoe kidney, Choreoathetosis, Spasticit... |
OMIM:617664 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional labilit... |
OMIM:201100 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Tremor, Sensorineural hearing impairment, Depression, Truncal obesity,... |
OMIM:300957 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia |
OMIM:603585 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Maturity-onset d... |
ORPHA:1578 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Low-set ears, Dysphagia, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephroblastoma, S... |
ORPHA:143 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
| Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Pigmentary retinopathy, Type ... |
ORPHA:79095 |
| Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Leukop... |
OMIM:620210 |
| Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Cardiomegaly, Flexion contracture, Abnormal pyramidal sign, Atrioventricular block, ... |
ORPHA:581 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hip contracture, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Knee flexion co... |
OMIM:156400 |
| Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Tremor, Leukopenia, Tongue fasci... |
ORPHA:297 |
| East Syndrome |
|
Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Di... |
ORPHA:199343 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... |
OMIM:255160 |
| Alg8-Cdg |
|
Hyponatremia, Ataxia, Optic atrophy, Anemia, Retinopathy, Thrombocytopenia |
ORPHA:79325 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Hypsarrhythmia, Poor fine motor coordination, Sick sinus syndrome, Bra... |
ORPHA:542306 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Anemia, Hypocalcemia, Optic atrophy from cranial nerve compression, Thrombocy... |
ORPHA:210110 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnorma... |
ORPHA:646 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V... |
ORPHA:116 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly, Mitral valve prolapse, Mitral regurgitation, My... |
ORPHA:309155 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephroblastoma, S... |
ORPHA:99880 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Aggressive behavior, Tongue thrusting, Opisthotonus, Choreoathetosis, Attention defi... |
OMIM:619580 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
| Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Self-biting, Mitral valve prolapse, Recurrent hand flappi... |
OMIM:300624 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Depression, Gait ataxia, Bradyk... |
OMIM:137440 |
| Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, Atrial septal defect, Cardiomegaly, Sensorineu... |
ORPHA:79330 |
| Congenital Myopathy 12 |
|
Abnormal circulating creatine kinase concentration, Akinesia |
OMIM:612540 |
| Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... |
ORPHA:397612 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperhomocystinemia, Neutropen... |
OMIM:277400 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Abnormal adipose tissue morphology, Hypocalcemia, Gait disturbance, Hypophosphat... |
ORPHA:93160 |
| Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Hypertonia, Anemia |
OMIM:620184 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid ... |
OMIM:185070 |
| African Trypanosomiasis |
|
Urinary incontinence, Tremor, Choreoathetosis, Abnormal EKG, Hepatomegaly, Abnormal central motor... |
ORPHA:3385 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Bruxism, Agitation, Abnormal autonomic nervous system physiology, Dystonia, Recurrent hand flapping |
OMIM:617903 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... |
OMIM:241600 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Splenomegaly, Spastic diplegia, Anemia, Type I diabetes mell... |
ORPHA:290 |
| Hyperlysinemia |
|
Tremor, Dysmetria, Opisthotonus, Cystinuria, Hyperactivity, Clumsiness, Hypoornithinemia, Hyperly... |
ORPHA:2203 |
| Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Renal insufficiency, Transient ischemic attack, Proteinuria, Small f... |
OMIM:242900 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Clonus, Spastic tetraparesis, Sensorineural hearing impairment, Babinski sign,... |
ORPHA:423479 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Self-injurious behavior, Bruxism, Macrotia, Abnormal repetitive ma... |
OMIM:618004 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Babinski sign, Optic atrophy, Limb... |
OMIM:619259 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Pr... |
OMIM:227810 |
| 46,Xy Sex Reversal 4 |
|
Sensorineural hearing impairment, Elevated circulating creatinine concentration, Hydronephrosis, ... |
OMIM:154230 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... |
OMIM:618027 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... |
ORPHA:860 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... |
ORPHA:101 |
| Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... |
OMIM:609454 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Clumsiness, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating r... |
ORPHA:89938 |
| Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
| Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... |
OMIM:619632 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... |
ORPHA:401777 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Dilatation of the renal pelvis, Optic atrophy, Dysmetria, Knee flexion c... |
OMIM:619708 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Neurogenic bladder, Incoordination, Aggressive behavior, Paralysis, Paraparesis, P... |
ORPHA:43 |
| Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... |
OMIM:601678 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa... |
ORPHA:210136 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Ataxia, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Prolonged neonat... |
OMIM:607625 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms |
OMIM:617393 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Enam... |
ORPHA:289157 |
| Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Renal insufficiency, Elevated circulating C-reactive protein concentration... |
ORPHA:319213 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... |
ORPHA:292 |
| Friedreich Ataxia |
|
Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Optic atrophy, Limb ataxia, Gait a... |
OMIM:229300 |
| Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Lymphadenitis, Abnormality of the lym... |
ORPHA:2035 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... |
OMIM:245348 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia, Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Thrombocytopenia |
OMIM:608013 |
| Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea, Involuntary movements |
OMIM:616939 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms, Hy... |
OMIM:615873 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hyper... |
ORPHA:79139 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Prominent antihelix, Abnormal repetitive mannerisms, Optic atrophy, Dystonia |
OMIM:617807 |
| Cushing Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Myocardial infarction, Optic nerve compr... |
ORPHA:96253 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Urinary glycosaminoglycan excre... |
ORPHA:79255 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, A... |
OMIM:252900 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... |
ORPHA:90363 |
| Xq28 (MECP2) duplication |
|
Macrotia, Abnormal repetitive mannerisms, Dysphagia |
DECIPHER:45 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Optic disc pallor, Akinesia, Acanthocytosis, Hand tremor, Hypertonia, Poikiloc... |
OMIM:618947 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Inguinal hernia, Transient neutropenia, Multicystic kidney dysplasia, Chronic ... |
ORPHA:500095 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Optic atrophy, Anemia, Exudative... |
OMIM:612199 |
| Snakebite Envenomation |
|
Hyponatremia, Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Thrombocytopenia |
ORPHA:449285 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperaldosteronis... |
OMIM:241200 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... |
ORPHA:101016 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Hearing impairment, Cardiomegaly, Tremor, Sensorineural hearing imp... |
OMIM:105210 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia |
ORPHA:858 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:600081 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... |
ORPHA:37553 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesi... |
OMIM:614381 |
| Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:108 |
| Diaphanospondylodysostosis |
|
Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulati... |
OMIM:608022 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Clonus, Thrombocytopenia, Leukocyt... |
OMIM:259720 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentrati... |
ORPHA:52503 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, Bradykinesia, Urinary urge... |
OMIM:168600 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Failure to thrive, Hypercalciuria, General... |
ORPHA:2088 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:602522 |
| Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, L... |
OMIM:123450 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Abnormal optic nerve morph... |
ORPHA:3226 |
| Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Spastic tet... |
OMIM:619913 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms, Dystonia |
ORPHA:280763 |
| Linear Verrucous Nevus Syndrome |
|
Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
| Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Atax... |
OMIM:619229 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Slender build, Chorea, Heart murmur, Myoclonus, Pulmonic stenosis,... |
OMIM:617600 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Hypospadias, Microcytic anemia, Flexion contracture, Aplasia/H... |
ORPHA:98791 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absen... |
OMIM:619705 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance, Abnormal optic nerve m... |
ORPHA:83629 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Failure to thrive, Tricuspid regurgitation, Sensorineural hearing impairmen... |
OMIM:618460 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Abnormal circulating fatty-ac... |
ORPHA:139396 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Hypsarrhythmia, Head tremor, Continuous spike and wave... |
OMIM:619428 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacolon, Abnormal hemoglob... |
ORPHA:847 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto... |
ORPHA:391673 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
| Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthotonus, Inappropriate l... |
OMIM:103050 |
| Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Tremor, Hepatomegaly, Ataxia, Abnormal per... |
ORPHA:355 |
| Congenital Myopathy 9A |
|
Tongue fasciculations, Akinesia |
OMIM:618822 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Posteriorly rotated ears, Ventricular septal defect, Sensorineural h... |
OMIM:301040 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Ataxia, Elevated circulating creatine kinase concentration, Tremor... |
OMIM:615356 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:618116 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Myoclon... |
ORPHA:438213 |
| Aicardi-Goutieres Syndrome 1 |
|
Inability to walk, Splenomegaly, Abnormality of extrapyramidal motor function, Dystonia, Spastici... |
OMIM:225750 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of... |
ORPHA:171 |
| Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Prominent U wave, Hem... |
ORPHA:466677 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Lower limb spasticity, Hyperactivity, Urinary incontinence, Clonus, Hiatus hernia, Urinary hesita... |
OMIM:609727 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Inguinal hernia, Flexion contracture of finger, Failure to thrive, Shoulder flex... |
OMIM:193700 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... |
OMIM:616586 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia |
OMIM:241520 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Bilateral conductive hearing impairment, Interictal epileptiform activity, Low-set ears, Dysphagi... |
OMIM:617802 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Abnormal lym... |
ORPHA:229717 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Lethar... |
ORPHA:99826 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Hepatic fibrosis, Poly... |
OMIM:200995 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Dysphag... |
OMIM:610217 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Hypertension, Focal segmental glomeru... |
OMIM:232200 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Hyperphosphaturia, Hepatocellular adenoma, Hepatitis, Cholestasis, Renal phosphate ... |
ORPHA:562 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... |
ORPHA:64743 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of... |
OMIM:614171 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal ... |
OMIM:252930 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Facial paralysis, Thrombocytopenia |
OMIM:259700 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Pericardial effusion, Lymphaden... |
ORPHA:93552 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase... |
OMIM:619424 |
| Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Renal insufficiency, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Frequent falls, Incoordination, Ataxia |
ORPHA:79136 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Inguinal hernia, Multicystic kidney dysplasia, Ataxia, Renal insufficiency, Portal ... |
ORPHA:1454 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe... |
ORPHA:3306 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spasti... |
OMIM:617281 |
| 5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
| Classic Phenylketonuria |
|
Tremor, Paraplegia, Hypertonia, Hyperphenylalaninemia, Hemiplegia |
ORPHA:79254 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Failure to thrive, Clonus, Optic nerve hypoplasia, Tremor, Simple e... |
OMIM:615574 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Micropeni... |
ORPHA:51 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Paralysis |
ORPHA:83601 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... |
OMIM:617751 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Lower limb hy... |
OMIM:169400 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251110 |
| Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hypoglutaminemia, Hepatomegaly, ... |
ORPHA:3008 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Hearing impairment, Tremor, Fasciculations,... |
OMIM:620327 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Pigmenta... |
ORPHA:502423 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Listeriosis |
|
Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulomatosis, Cholecystitis,... |
ORPHA:533 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Clonus, Protruding ear, Hypertonia, Tics, Compulsive behaviors, Micropenis... |
OMIM:619475 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Weight loss, Pulmonary venous hype... |
ORPHA:79128 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Ataxia, Hypospadias, Small for gestational age, Tremor, Hyperammonemia, Hyperten... |
OMIM:614052 |
| Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit... |
ORPHA:72 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal d... |
OMIM:608978 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Nephrocalc... |
OMIM:616026 |
| Aicardi-Goutieres Syndrome 5 |
|
Spasticity, Thrombocytopenia |
OMIM:612952 |
| Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Gait imbalance... |
ORPHA:2828 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Tremor, C... |
ORPHA:276621 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contr... |
OMIM:617591 |
| Serotonin Syndrome |
|
Restlessness, Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Irritability, Hypertonia, Agit... |
ORPHA:43116 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
| Scrub Typhus |
|
Renal insufficiency, Tremor, Splenomegaly, Myocarditis, Lymphadenopathy, Hypotension, Lethargy |
ORPHA:83317 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Weight loss, Red... |
ORPHA:90362 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
| Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal renal mor... |
ORPHA:1666 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypoglycemia, Macular coloboma, Megaloblastic ... |
ORPHA:79282 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... |
OMIM:301078 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Optic atrophy, Th... |
OMIM:614576 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
| Alexander Disease |
|
Ataxia, Clonus, Sudden cardiac death, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetr... |
ORPHA:58 |
| Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... |
ORPHA:208447 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia |
ORPHA:438216 |
| Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Tremor, Large earlobe, Low-set ears, Dysphagia, Conductive hear... |
OMIM:619312 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Incoordination, Megaloblastic anemia, Thrombocytopenia, Hyp... |
OMIM:277380 |
| Hyperparathyroidism, Transient Neonatal |
|
Inguinal hernia, Unilateral renal agenesis, Low-set ears, Splenic cyst, Umbilical hernia, Enlarge... |
OMIM:618188 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Weight loss, Abnormality of extrapyramidal motor function, Hypo... |
ORPHA:178509 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Inguinal hernia, Hyperactivity, Hepatomegaly, Aggressive behavior, Heparan sulfate ... |
OMIM:252940 |
| 22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
ORPHA:1727 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
| Lamb-Shaffer Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Optic atrophy, Abnormal temper tantrums |
ORPHA:530983 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia |
OMIM:611490 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-set ears,... |
OMIM:618430 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Follicular hyperplasia,... |
OMIM:615934 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Neutropenia, Thrombocytopenia |
ORPHA:47 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Spasticity, Renal tubular dysfunction, Irritabili... |
OMIM:616539 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Mildly elevated creatine kinase |
ORPHA:397744 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... |
ORPHA:508542 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... |
OMIM:617796 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Clonus, Flexion contracture, Elbow flexion contrac... |
OMIM:617301 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... |
ORPHA:500159 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Dysphagia, Lethar... |
ORPHA:319218 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
| Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention ... |
OMIM:617061 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Urinary incontinence, Hearing impairment, Tremor, Decreased nerve conduct... |
ORPHA:512 |
| Sézary Syndrome |
|
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:3162 |
| Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Rod-cone dystrophy, Aplastic anemia, Hypocholesterolemia |
OMIM:223370 |
| Rett Syndrome, Congenital Variant |
|
Dystonia, Tongue thrusting, Protruding ear, EEG abnormality, Athetosis, Bruxism, Abnormal repetit... |
OMIM:613454 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Vocal cord paresis |
OMIM:619574 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenital dia... |
OMIM:601186 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Cholangitis, Retroperitoneal... |
ORPHA:449563 |
| Trisomy 10P |
|
Absent gallbladder, Poor motor coordination, Abnormality of the kidney, Abnormal auditory evoked ... |
ORPHA:171929 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Mercury Poisoning |
|
Tachycardia, Anorexia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia, Acute kidney injury |
ORPHA:330021 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Urinary incontinence, Aggressive behavior, Tremor, Complete atrioventricular canal... |
ORPHA:476126 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia |
OMIM:615085 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
| Aregenerative Anemia |
|
Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, Bo... |
ORPHA:101096 |
| Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Irrit... |
OMIM:207800 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical body rock... |
OMIM:300912 |
| Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... |
ORPHA:401973 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Hemiparesis, Thrombocytopenia |
OMIM:615750 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ... |
ORPHA:521426 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis |
OMIM:613239 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
| Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response, Hypertonia |
OMIM:272800 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
| Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... |
OMIM:617988 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
| Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess |
ORPHA:3392 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Hyperactivity, Broad-based gait, Camptodactyly of finger, Hypoplasia of penis, A... |
ORPHA:85293 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Renal phosphate wasting, Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
| Lethal Congenital Contracture Syndrome 2 |
|
Degenerative vitreoretinopathy, Akinesia |
OMIM:607598 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor,... |
OMIM:619680 |
| Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Hypocholesterolemia |
OMIM:244450 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Leukopenia, Elevated circulating creatine kinase concentration, Thrombocy... |
OMIM:301056 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... |
OMIM:253800 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Jaundice, Sensorineural hearing impairment, Dysphagia, 3-Methylglutaric... |
OMIM:617248 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Ataxia, Leukopenia, Exudative retinopathy, Bone marrow hypocellula... |
OMIM:613990 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia, Tongue fasciculations |
OMIM:619851 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... |
ORPHA:263297 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... |
ORPHA:70591 |
| Unilateral Polymicrogyria |
|
Epistaxis, Involuntary movements, Spastic tetraplegia, Abnormal heart morphology, Hemiparesis, Po... |
ORPHA:268943 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... |
OMIM:115197 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocyto... |
OMIM:618775 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Dorsocervical fat pad, Myocardial in... |
ORPHA:99889 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Optic atrophy, Hepatosplenomegaly, Anemia, Facial par... |
OMIM:259710 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Small for gestational ag... |
OMIM:260400 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Hypertonia, Bone marrow hypocellularity, Thrombocy... |
ORPHA:3322 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Atri... |
ORPHA:84064 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:617527 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... |
ORPHA:411629 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Spasticity, Thrombocytopenia, Dystonia |
OMIM:251290 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Inguinal hernia, Posteriorly rotated ears, Congenital diaphragm... |
OMIM:614294 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibros... |
ORPHA:449432 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... |
OMIM:618914 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... |
OMIM:610042 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Erythro... |
OMIM:233450 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:488618 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Tachycardia, Renal insufficiency, Dark urine, Urinary incontinence, D... |
ORPHA:79276 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, Chronic kidney... |
ORPHA:25 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Retinal vasculitis |
OMIM:618969 |
| Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Hypertonia, Thrombocytopenia |
ORPHA:85212 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Dyst... |
ORPHA:261197 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Enamel hypomineralization, Renal phosphate wasting, R... |
OMIM:307800 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice, ... |
OMIM:229600 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thromboc... |
ORPHA:293978 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Tremor, C... |
ORPHA:29072 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Failure to thrive, Jaundice, Ly... |
ORPHA:276 |
| 48,Xxyy Syndrome |
|
Chronic otitis media, Abnormal repetitive mannerisms, Tremor, Attention deficit hyperactivity dis... |
ORPHA:10 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, Pa... |
ORPHA:79124 |
| Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... |
OMIM:613174 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Overweight, Persistence of hemoglobin F, Increased size... |
OMIM:619769 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Retinopathy, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Splenomegaly, Babinski sign, Lower limb hypertonia, Myoclonus, Truncal a... |
OMIM:301072 |
| Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Aggressive behavior, Athetosis, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
OMIM:619435 |
| Stt3B-Cdg |
|
Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Failure to thrive, Ventricular septal defect, Tremor, EEG with burst suppression, ... |
ORPHA:1934 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Partial development of the penile shaft, Bradycardia, Tongue fascic... |
OMIM:608800 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia |
OMIM:193100 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia, Neonatal hypogly... |
ORPHA:90794 |
| Legius Syndrome |
|
Hyperactivity, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Nephrolithiasis, Mitral v... |
ORPHA:137605 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Hyperuricem... |
ORPHA:469 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Thrombocytopenia |
OMIM:615597 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can... |
OMIM:619573 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Myoclonus, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Repetitive compulsive behavior, Dysphagia, Low-set ears, Bruxism, Macrotia, Abnormal repetitive m... |
OMIM:300260 |
| Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hypertonia, Hyperammonemia |
OMIM:253270 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,... |
OMIM:619991 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularit... |
ORPHA:88 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Wilson Disease |
|
Splenomegaly, Clumsiness, Anemia, Difficulty walking, Thrombocytopenia |
ORPHA:905 |
| Viss Syndrome |
|
Epidural hemorrhage, Right ventricular dilatation, Atrial septal defect, Patent foramen ovale, Co... |
OMIM:619472 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal repetitive mannerism... |
ORPHA:580 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... |
OMIM:251880 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
| Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aplasia/Hypoplasia... |
ORPHA:2306 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thrombocytopeni... |
ORPHA:77293 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Posteriorly rotated ears, Tremor, Tip-toe gait, Distal arthrogryposis, Attention d... |
OMIM:617557 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Abnormal re... |
OMIM:616364 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Steatorrhea, Hyperbiliru... |
OMIM:557000 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Lower limb spasticity, Spastic tetraparesis, Increased circulatin... |
OMIM:615846 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ... |
ORPHA:508 |
| Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... |
OMIM:619510 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary incontinence, Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal... |
ORPHA:447753 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia |
ORPHA:100024 |
| Macrocephaly/Autism Syndrome |
|
Speech apraxia, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity,... |
OMIM:605309 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... |
ORPHA:36234 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Telangiectasia of the skin, Abnormality of the lymphatic system, Multiple lipomas, M... |
ORPHA:276280 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti... |
OMIM:619293 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Spastic diplegia, Increased mean platelet volume |
OMIM:300048 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Atrial septal defect, Posterior heli... |
OMIM:312870 |
| Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-set ears |
OMIM:618205 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremo... |
OMIM:610505 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... |
OMIM:614868 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
| Fibrous Dysplasia Of Bone |
|
Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia, Hearing impairment |
ORPHA:249 |
| Raine Syndrome |
|
Mixed hearing impairment, Hydroureter, Posteriorly rotated ears, Abnormal pinna morphology, Protr... |
OMIM:259775 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... |
OMIM:610253 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration |
OMIM:301054 |
| Smith-Magenis Syndrome |
|
EEG abnormality, Self-injurious behavior, Attention deficit hyperactivity disorder, Conductive he... |
ORPHA:819 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cor... |
OMIM:130650 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
| Shigellosis |
|
Hyponatremia, Hypoglycemia, Abscess, Leukocytosis, Abnormal blood ion concentration, Microangiopa... |
ORPHA:810 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Hyperactivity, Abscess, Impulsivity, Self-mutilation, Chronic kidney dise... |
ORPHA:642 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequent temper tantrums, A... |
OMIM:619103 |
| Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... |
OMIM:194080 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... |
OMIM:300986 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Dystonia, Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal autonom... |
ORPHA:300570 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... |
ORPHA:466768 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Low-set ears, Ma... |
OMIM:212066 |
| Childhood Absence Epilepsy |
|
Urinary incontinence, Depression, Punding, Attention deficit hyperactivity disorder, Limb myoclon... |
ORPHA:64280 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
| White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... |
ORPHA:468678 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repet... |
OMIM:616393 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr... |
OMIM:222700 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Icf Syndrome |
|
Abnormality of neutrophils, Low-set ears, Umbilical hernia, Lymphopenia, Anemia |
ORPHA:2268 |
| Smith-Kingsmore Syndrome |
|
Hypoglycemia, Thrombocytopenia |
OMIM:616638 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Ataxia, Optic nerve hypoplasia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased... |
ORPHA:221139 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Compulsive behaviors, Conductive hearing impairment, Vesicoureteral reflux... |
ORPHA:353281 |
| Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Hypocalcemia, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Spastic diplegia, Lymphadenopathy, T lymphocytop... |
OMIM:607944 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Absence of subcutaneous fat, Ren... |
OMIM:620005 |
| Braddock-Carey Syndrome 1 |
|
Spastic diplegia, Thrombocytopenia |
OMIM:619980 |
| Megalocornea-Intellectual Disability Syndrome |
|
EEG abnormality, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:2479 |
| Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
| Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Elevated circulating creatine kinase concentration, Facia... |
OMIM:164310 |
| Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... |
OMIM:619695 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Splenomega... |
ORPHA:90051 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
| Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements, Nephronophthisis |
OMIM:257550 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retin... |
ORPHA:2785 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
| Felty Syndrome |
|
Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte morphology, T... |
ORPHA:47612 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:100026 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Multifocal epileptiform discharg... |
ORPHA:369837 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggres... |
OMIM:619121 |
| Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymp... |
OMIM:616084 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Abnormal repetitive mannerisms, Low-set ears, Overfriendliness |
OMIM:616579 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Thrombocytopenia |
OMIM:208085 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate... |
OMIM:608233 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Fatigable weakness, Anemia, Thrombocytopenia |
ORPHA:169105 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig... |
ORPHA:99867 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Microphallus, Low-set ears, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
| Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Pancytopenia, Type II diabetes mellitus, Thrombocytopenia |
OMIM:606593 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Abnormality of the outer ear, A... |
ORPHA:435638 |
| Opsismodysplasia |
|
Renal phosphate wasting, Posteriorly rotated ears, Low-set ears, Hypophosphatemia |
OMIM:258480 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Periodic paralysis, Depression, Hypokale... |
OMIM:170390 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
| Activated Pi3K-Delta Syndrome |
|
Splenomegaly, B lymphocytopenia |
ORPHA:397596 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Vascul... |
ORPHA:1572 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Tongue thrusting, Protruding ear, Bruxism, Macrotia, Abnormal repetitive man... |
OMIM:606232 |
| Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms |
OMIM:618067 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Repetitive compulsive behavior, EEG with focal sharp waves, Self-biting, Choreoathetosis, EEG abn... |
ORPHA:522077 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpi... |
ORPHA:231625 |
| Smith-Lemli-Opitz Syndrome |
|
Splenomegaly, Hypertonia, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentratio... |
OMIM:270400 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... |
OMIM:613989 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Gaucher Disease, Type I |
|
Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... |
OMIM:613507 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glom... |
ORPHA:289390 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... |
ORPHA:904 |
| Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620242 |
| Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Hyperinsulinemia, Dysmetria, Anemia, Vitreous hemorrhage... |
OMIM:620185 |
| Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:301094 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Optic atrophy, Ataxia, Increased mean platelet volume |
OMIM:616737 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
| Transaldolase Deficiency |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:606003 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| Farber Disease |
|
Paraparesis, Hepatosplenomegaly, Anemia, Macular degeneration, Myoclonus, Cherry red spot of the ... |
ORPHA:333 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Functional ab... |
ORPHA:391487 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ... |
OMIM:619575 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias |
OMIM:250790 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Catastrophic Antiphospholipid Syndrome |
|
Chorea, Retinal arterial occlusion, Coombs-positive hemolytic anemia, Microangiopathic hemolytic ... |
ORPHA:464343 |
| 2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
ORPHA:1001 |
| Adams-Oliver Syndrome |
|
Hemiparesis, Leukopenia, Hypertonia, Thrombocytopenia |
ORPHA:974 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Hamamy Syndrome |
|
Inguinal hernia, Prolonged QRS complex, Microcytic anemia, Complete atrioventricular canal defect... |
OMIM:611174 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Dysphagia, Dystonia, Macrotia, Abnormal repetitive mannerisms |
ORPHA:496641 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Sensorineural hearing impairment, Enthesitis, Hypophosphatemia, Renal phosphate ... |
ORPHA:89936 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
| Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Abnormality of the kidney, Abnormality of the spleen, Cel... |
ORPHA:228119 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
| Brucellosis |
|
Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration, Hypersplenism... |
ORPHA:1304 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:77259 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Sensorineural hearing ... |
ORPHA:289176 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Tremor, Microvesicular hepatic steatosis, Aortic valve atresia, Dysmetria,... |
OMIM:220111 |
| Kleefstra Syndrome |
|
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Thickened helices, Abnormal r... |
ORPHA:261494 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Splenomegaly, Ankle clonus, Neutropenia, Thrombocytopenia |
OMIM:308230 |
| Whim Syndrome |
|
Lymphadenitis, Neutropenia, Abnormal neutrophil morphology, Limb ataxia, Tetralogy of Fallot, Poo... |
ORPHA:51636 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Recurrent urinary tract ... |
OMIM:251260 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Ectopic kidney, External ear malformation, Splenomegaly, Pericardial eff... |
ORPHA:2136 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Multiple joint contractures, Urinary incontinence, Clonus, ... |
ORPHA:447997 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski s... |
OMIM:146500 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... |
OMIM:615745 |
| Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:170100 |
| Rift Valley Fever |
|
Retinitis, Paralysis, Paraparesis, Retinal hemorrhage, Macular edema, Anemia, Hemiparesis, Retina... |
ORPHA:319251 |
| Immunodeficiency 22 |
|
Abscess, Retinal vasculitis, Anemia, Decreased proportion of CD4-positive helper T cells, Thrombo... |
OMIM:615758 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compulsive be... |
OMIM:615656 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Rod-cone dystrophy, Thrombocytopenia |
ORPHA:96181 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Le... |
ORPHA:50918 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Tuberous Sclerosis Complex |
|
Renal cyst, Internal hemorrhage, Hyperactivity, Abnormality of the kidney, Repetitive compulsive ... |
ORPHA:805 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Reynolds Syndrome |
|
Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice... |
OMIM:613471 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
| 7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Polyphagia,... |
ORPHA:96121 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Compulsive behaviors, Conductive hearing impairment, Vesicoureteral reflux... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Compulsive behaviors, Conductive hearing impairment, Vesicoureteral reflux... |
ORPHA:353277 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hem... |
ORPHA:544482 |
| Gaucher Disease, Type Ii |
|
Rigidity, Splenomegaly, Anemia, Hypertonia, Oculomotor apraxia, Spasticity, Thrombocytopenia |
OMIM:230900 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Neutropenia, Thrombocytopenia, Steatorrhea |
OMIM:617941 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Atrial septal defect, Exaggerated startle response, Small earlobe, Hypospadia... |
OMIM:619522 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, EEG with tem... |
ORPHA:217253 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Impulsivity, Aggressive be... |
OMIM:300967 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Abnormal repetitive mannerisms, Low-set ears, Aggressive behavior |
ORPHA:457279 |
| Caroli Syndrome |
|
Liver abscess, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbilir... |
ORPHA:480520 |
| Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Abnormality of... |
OMIM:241080 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in... |
OMIM:619512 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Chorioretinitis, Optic neuritis, B lymphocytopenia, Neutropenia |
OMIM:301081 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Ataxia, Splenomegaly, Anemia, Gait disturbance, Thrombocytopenia |
ORPHA:77261 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Broad-based gait, Paralysis, Abnormality of the spleen, Splenomegaly, ... |
ORPHA:2072 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Irritability, Hypertonia, Dysphagia, Spasticity, EEG with generaliz... |
OMIM:618367 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Low-se... |
ORPHA:444072 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Broad-based gait, Hyperactivity, Ataxia, Posteriorly rotated ears, Hiatus hernia, Aggr... |
OMIM:614756 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227645 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
ORPHA:169090 |
| Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Vitreous hemorrhage, Retinal hemorrhage, Hyperbilirubinemia |
ORPHA:464321 |
| Developmental And Epileptic Encephalopathy 2 |
|
EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:300672 |
| Fanconi Anemia, Complementation Group F |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:603467 |
| Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Recurrent hand flapping, Abnorma... |
OMIM:615485 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Acute Liver Failure |
|
Incoordination, Ataxia, Hypoglycemia, Slurred speech, Hyperammonemia, Thrombocytopenia |
ORPHA:90062 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia |
OMIM:620370 |
| Charge Syndrome |
|
Secundum atrial septal defect, Hypocalcemia, Atrial septal defect, Micropenis, Aplasia/Hypoplasia... |
OMIM:214800 |
| Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Myoclonus |
ORPHA:46059 |
| Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
| Pitt-Hopkins Syndrome |
|
Thickened helices, Self-injurious behavior, Cupped ear, Abnormal repetitive mannerisms |
OMIM:610954 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f... |
OMIM:301066 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Cerebral palsy, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Optic atrophy, Anemia, Leukopenia, Bone marrow hypo... |
OMIM:305000 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Aganglionic megacolon, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu... |
ORPHA:99827 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Babinski sign, Concentric hypertr... |
OMIM:601992 |
| Fibular Hemimelia |
|
Difficulty walking, Thrombocytopenia |
ORPHA:93323 |
| Sotos Syndrome |
|
Ureteral duplication, Tremor, Flexion contracture, Vesicoureteral reflux, Conductive hearing impa... |
ORPHA:821 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227646 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tolerance, Elevat... |
OMIM:256040 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:261323 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Optic nerve hypoplasia, Self-injurious beha... |
ORPHA:468631 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Protruding ear, Choreoathetosis, Bilateral sensorineural hearing impairment, Dyst... |
ORPHA:3464 |
| Jacobsen Syndrome |
|
Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Spasticity, Thrombocytopenia |
OMIM:147791 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Porphyria, Congenital Erythropoietic |
|
Elevated circulating uroporphyrin concentration, Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
| Dyskeratosis Congenita |
|
Diabetes mellitus, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Bone marrow hypoce... |
ORPHA:1775 |
| Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling,... |
OMIM:620330 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Chorea, Leukopenia, Retinopathy, Thrombocytopenia |
ORPHA:536 |
| Cornelia De Lange Syndrome 1 |
|
Optic disc coloboma, Hypertonia, Optic atrophy, Thrombocytopenia |
OMIM:122470 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:319182 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Left axis deviation, Double outlet right ventricle, Single ventricle of indetermi... |
OMIM:620294 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Protruding ear, Low-set ears,... |
OMIM:309590 |
| Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils |
ORPHA:235 |
| Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG... |
ORPHA:649 |
| Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit... |
OMIM:301030 |
| Leptospirosis |
|
Papilledema, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic neuritis, Macular cotto... |
ORPHA:509 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
EEG abnormality, Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity... |
OMIM:619005 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Arboleda-Tham Syndrome |
|
Dystonia, Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atroph... |
OMIM:616268 |
| Q Fever |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Granuloma, Thrombocytopenia |
ORPHA:781 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
| Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Protruding ear, Macrotia, Abnormal repetitive mannerisms |
ORPHA:464306 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Prot... |
ORPHA:464311 |
| Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms |
OMIM:610688 |
| Developmental And Epileptic Encephalopathy 100 |
|
Choreoathetosis, Abnormal repetitive mannerisms, EEG with photoparoxysmal response, Dysphagia |
OMIM:619777 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri... |
ORPHA:508498 |
| Kinsship Syndrome |
|
Abnormal repetitive mannerisms, Low-set ears, Bruxism |
OMIM:619297 |
| 22Q11.2 Deletion Syndrome |
|
Abnormality of thrombocytes, Retinal arteriolar tortuosity, Splenomegaly, Optic atrophy, Hypoplas... |
ORPHA:567 |
| Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Neonatal hypoglycemia, Thrombocytopenia |
OMIM:619004 |
| Stevens-Johnson Syndrome |
|
Anemia, Thrombocytopenia, Abnormality of neutrophils |
ORPHA:36426 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Optic atrophy, Increased mean platelet volume |
ORPHA:487796 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Posteriorly rotated ears, Overfolded helix, Low-set ears, Dysphagia, Small earlobe, Abnormal repe... |
OMIM:617330 |
| Hardikar Syndrome |
|
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Pigmentary retinopathy, Hyperbilirubinemia, Thro... |
OMIM:301068 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| 1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Polyphagia, E... |
ORPHA:1606 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overfolded helix, Abnormal repetitive mannerisms, Low-set ears |
OMIM:618653 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia |
OMIM:300755 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Stereotypical body rocking, ... |
ORPHA:513456 |
| Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin... |
OMIM:619325 |
| Osteogenesis Imperfecta |
|
Ataxia, Gait disturbance, Tetraparesis, Loss of ambulation, Thrombocytopenia |
ORPHA:666 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Hypsarrhythmia, Abnormal cochlea mor... |
ORPHA:798 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:84 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... |
OMIM:301044 |
| Jacobsen Syndrome |
|
Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:2308 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Anemia, Type I diabetes mellitus, Thrombocytopenia |
OMIM:619525 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, ... |
OMIM:612474 |
| Digeorge Syndrome |
|
Splenomegaly, Anemia, Hemiparesis, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia |
OMIM:188400 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Abnormal optic nerve morphology, Thrombocytopenia |
ORPHA:79078 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Sensorineural hearing impairment, EEG abnormality, Conductive hearing ... |
OMIM:194190 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Absent circulating B cells |
OMIM:307200 |
| Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
| Primrose Syndrome |
|
Restlessness, Calcification of the auricular cartilage, Aggressive behavior, Superiorly displaced... |
OMIM:259050 |
| Mowat-Wilson Syndrome |
|
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Sensorineural hearing impairme... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairme... |
ORPHA:261537 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia |
OMIM:163950 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairme... |
ORPHA:261552 |
| Lowe Oculocerebrorenal Syndrome |
|
Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:616682 |
