| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Axonal degeneration, Axonal degeneration/regeneration |
OMIM:614436 |
| Hyperlysinemia, Type I |
|
Cognitive impairment, Short attention span, Hyperactivity, Anemia |
OMIM:238700 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Optic atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peripheral myelinat... |
OMIM:604484 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration |
OMIM:616155 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema, Intrauterine growth retardation |
OMIM:189800 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Axonal degeneration |
OMIM:618138 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Axonal degeneration, Cerebral atrophy, Peripheral hypomyelination... |
OMIM:604168 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:620011 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, EEG abnormality, Increased mean corpu... |
OMIM:617021 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Axonal degeneration |
OMIM:618811 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration |
ORPHA:90103 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet... |
OMIM:616860 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I... |
ORPHA:98818 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Axonal degeneration, Decreased number of larg... |
OMIM:208920 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Hearing im... |
ORPHA:208441 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Neurodegeneration, Diffuse cerebellar atrophy, Global brai... |
ORPHA:478029 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Degeneration of anterior horn cells, Peripheral axonal degeneration, Axonal degeneration |
OMIM:604320 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy |
OMIM:616811 |
| Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Abnormal autonomic nervous system physiology, Cognitive im... |
ORPHA:369873 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, EEG with focal sharp slow waves, Mental dete... |
ORPHA:2382 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
| Hyperprolinemia, Type I |
|
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Hearing impairment |
ORPHA:2169 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Cupped ea... |
OMIM:617052 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Cerebral atrophy, Axonal loss, Neurodegeneration, Peripheral demyelination, C... |
OMIM:617672 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness of bulbar muscles, Fatiga... |
ORPHA:803 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volume |
OMIM:611590 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, EEG with abnormally slow frequencies, Multifocal epileptiform discharges, EEG with... |
ORPHA:599373 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Increased cerebral lipofuscin, Cerebral atrophy |
OMIM:615918 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Protruding ear, Increased mean corpuscular volume, Dysphagia, Thrombocyto... |
ORPHA:261250 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Atresia of the external auditory canal, Neu... |
OMIM:612562 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration, Motor axonal neuropathy |
OMIM:615643 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... |
ORPHA:3077 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
| Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration |
ORPHA:88628 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Neuromuscula... |
ORPHA:206443 |
| Rasmussen Subacute Encephalitis |
|
Hyperactivity, Increased theta frequency activity in EEG, EEG with focal epileptiform discharges,... |
ORPHA:1929 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Optic atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem |
OMIM:612319 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal repetiti... |
OMIM:618718 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosi... |
OMIM:616959 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Neurodegeneration, Neuronal loss in central ... |
OMIM:256600 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Optic atrophy, Neurodegeneration, Peripheral demyelination |
OMIM:245200 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, EEG with generalized polyspikes, Mental deterioration, EEG wi... |
ORPHA:163681 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, EEG abnormality, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre... |
ORPHA:100924 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... |
OMIM:615516 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
| Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Atrophy of the spinal cord, Axonal degeneration, Atrophy/Degenera... |
ORPHA:139399 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Macrotia, Depression... |
ORPHA:449291 |
| De Sanctis-Cacchione Syndrome |
|
Cerebral atrophy, Axonal degeneration, Optic atrophy, Global brain atrophy |
OMIM:278800 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, EEG with photoparoxysmal respo... |
ORPHA:168491 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:300894 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Brain atrophy, Death in childhood |
OMIM:214150 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Macrotia, Irritability, Lymphopenia, Abnormal repetitive mann... |
ORPHA:391307 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
| Cln5 Disease |
|
Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, Multifocal epileptiform discha... |
ORPHA:228360 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Peripheral axonal degeneration, Cerebral atrophy, Neurodegeneration, Cerebral... |
OMIM:615157 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy |
OMIM:609242 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Progressive language deterioration, Attentio... |
OMIM:610042 |
| Progressive Supranuclear Palsy |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Abnormal synaptic transmission |
ORPHA:683 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Irritability, Optic atrophy |
OMIM:616881 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
| Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro... |
ORPHA:391428 |
| Gm2 Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Optic atrophy, Neuronal loss in central nervous system, Neurodegeneration |
OMIM:616239 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Splenomegaly, Hearing i... |
OMIM:252920 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Infantile Krabbe Disease |
|
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... |
ORPHA:206436 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... |
ORPHA:3240 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Optic atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:615491 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Progressive hearing impairment, Cogn... |
ORPHA:43 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Optic neuropathy, Axonal degeneration, Optic atrophy, Glob... |
ORPHA:909 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Central nervous system degeneration, In... |
ORPHA:447788 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Autoimmune thrombocytopenia, Sensorineural hearing im... |
ORPHA:760 |
| Adult Krabbe Disease |
|
Mental deterioration, EEG abnormality, Prolonged brainstem auditory evoked potentials, Progressiv... |
ORPHA:206448 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Optic atrophy, Neurodegeneration, Mot... |
OMIM:614298 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Edema |
ORPHA:1054 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Adrenoleukodystrophy |
|
Neurodegeneration |
OMIM:300100 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration |
OMIM:606159 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615919 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Anemia, Macrotia, Abnormality of peripheral n... |
ORPHA:90321 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Neurodegeneration, Cerebral atrophy, Death in childhood |
OMIM:618321 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Optic atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610217 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Choreoacanthocytosis |
|
Compulsive behaviors, Decreased amplitude of sensory action potentials, Self-mutilation of tongue... |
ORPHA:2388 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Neurodegeneration |
OMIM:618476 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior |
ORPHA:401973 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Acanthocytosis, Optic atrophy, Phonic tics, Depression, Dementia, Dysphagia, Menta... |
OMIM:234200 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Optic atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:616878 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased h... |
ORPHA:90041 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Neurodegeneration |
OMIM:309900 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
| Multiple System Atrophy 1, Susceptibility To |
|
Neurodegeneration |
OMIM:146500 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
| Hurler Syndrome |
|
Neurodegeneration |
OMIM:607014 |
| Mucopolysaccharidosis, Type Vii |
|
Neurodegeneration |
OMIM:253220 |
| Chediak-Higashi Syndrome |
|
Neurodegeneration |
OMIM:214500 |
| Nijmegen Breakage Syndrome |
|
Neurodegeneration |
OMIM:251260 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurofibroma, Neurodegeneration, Peripheral demyelination |
OMIM:619475 |
| Primrose Syndrome |
|
Neurodegeneration |
OMIM:259050 |
| Developmental And Epileptic Encephalopathy 4 |
|
Cerebral atrophy |
OMIM:612164 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Telangiectasia |
ORPHA:495818 |
