Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Hyperlysinemia, Type I |
|
Anemia, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Hypsarrhythmia |
OMIM:619970 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hyperprolinemia, Type I |
|
Ataxia, EEG abnormality, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Dystonia, Spastic ataxia |
OMIM:277410 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Cognitive impairment, Hemolytic anemia, Microcytic anemia, Ane... |
ORPHA:846 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, Mental deterioration, Falls, Aggressive behavior, EEG with focal ... |
ORPHA:2382 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Mental deterioration, Tremor, Dystonia |
OMIM:615924 |
Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Social and occupational deterioration, Hyperactivity, Continuous s... |
ORPHA:98818 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior |
OMIM:300983 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Tremor |
OMIM:618090 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... |
ORPHA:320401 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior |
OMIM:619470 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, ... |
ORPHA:3077 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... |
ORPHA:206443 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... |
OMIM:301008 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:248510 |
Cln5 Disease |
|
EEG with focal spikes, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave complexes, D... |
ORPHA:228360 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Hypsarrhythmia |
OMIM:617113 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia, Hearing impairment |
ORPHA:2169 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Inability to walk, Hyperactivity, Irritability, Continuous spike and waves... |
ORPHA:1929 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... |
OMIM:125250 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia |
OMIM:612716 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Dystonia |
ORPHA:382 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Gait ataxia, Dystonia, Ir... |
ORPHA:248111 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rot... |
OMIM:609425 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
EEG abnormality, Inability to walk, Hyperactivity, Self-injurious behavior, Tremor, Low-set ears |
OMIM:618718 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Atresia of the external auditory canal, Neu... |
OMIM:612562 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Abcd Syndrome |
|
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... |
OMIM:600501 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... |
OMIM:601455 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharg... |
ORPHA:88616 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, EEG with generalized epileptiform discharges, Self-biting... |
OMIM:619827 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Protruding ear, Optic nerve hypoplasia, Hearing impairment, Th... |
ORPHA:261250 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior |
OMIM:309548 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, EEG abnormality, Hyperactivity, Self-injurious behavior, Anxiety, Aggressive behavior |
OMIM:271980 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Anemia, Leukopenia, Aplastic anemia, Normocytic a... |
ORPHA:811 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Optic disc pallor, Poikilocytosis, Elliptocytosi... |
OMIM:616959 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Microtia, Persistence of hemoglobin F, Leukopenia... |
ORPHA:124 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, Aggressive beh... |
OMIM:261600 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis |
OMIM:611590 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity, EEG with polyspike wave complexes |
OMIM:617169 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Ataxia, Action tremor, Abnormal autonomic nervous system physio... |
ORPHA:99027 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... |
OMIM:301013 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal em... |
ORPHA:1942 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Hyperactivity |
ORPHA:411515 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave ... |
ORPHA:168491 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Head ti... |
ORPHA:3240 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia, Irritability |
ORPHA:848 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia |
OMIM:615541 |
Optic Atrophy 11 |
|
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Optic atrophy, Macrotia, Hearing impairment |
OMIM:617302 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Diffi... |
OMIM:601596 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
EEG abnormality, Hyperactivity, Inability to walk, Gait ataxia, Aggressive behavior, Dystonia |
ORPHA:500180 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... |
ORPHA:86839 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Inability to walk, Decreas... |
ORPHA:101085 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... |
ORPHA:300298 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Anxiety, Falls, Difficulty walking, Emotional lability |
ORPHA:3198 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Irritability, Splenomegaly, Extramedullary hematopoiesis, Anis... |
ORPHA:231226 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Skin-picking, Ataxia, Hyperactivity, Progressive language deterioration, S... |
ORPHA:163681 |
Adult Krabbe Disease |
|
Broad-based gait, Ataxia, EEG abnormality, Mental deterioration, Progressive neurologic deteriora... |
ORPHA:206448 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Irritability, Splenomegaly, E... |
ORPHA:231214 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Limb dystonia, Athetosis |
ORPHA:621 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation |
OMIM:615516 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Hyperactivity, Abnormal autonomic nervous system physiology, Mental deterioration, Optic ... |
ORPHA:35069 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619467 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairment, Tremor, Gait ... |
ORPHA:363400 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
EEG with focal spikes, Hyperactivity, Self-injurious behavior, Progressive cerebellar ataxia, Anx... |
ORPHA:485350 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Protruding ear, Hyperactivity, Tremor, Attention deficit hypera... |
OMIM:618342 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration, Aggressive behavior |
OMIM:610042 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave comp... |
OMIM:619913 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Splenomegaly, Progressive neurologic deterioration, Aggressive behavior, Hearing i... |
OMIM:252920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:300958 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Lymphopenia, Aggressive behavior, Macrotia, Irritability |
ORPHA:391307 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Hyperactivity, Aggressive behavior |
ORPHA:101039 |
Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Anxiety, Autoimmune thrombocytopenia, Attention deficit hyperactivity disorder, Ag... |
OMIM:301069 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Irritability, Mental deterioration, Progressiv... |
ORPHA:206436 |
Stiff-Person Syndrome |
|
Agoraphobia, Exaggerated startle response, Opisthotonus, Anxiety, Anemia |
OMIM:184850 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conduction velocity, ... |
ORPHA:909 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Anemia, Optic atrophy, Gait disturbance, Difficulty ... |
ORPHA:90321 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Hyperactivity, Aganglionic megacolon, Self-mutilation, Athetosis, Dystonia |
ORPHA:52503 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials |
ORPHA:529799 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sensorineural hearing impairment, Ataxia, Lymphopenia, Hyperactivity, Autoimmune thrombocytopenia... |
ORPHA:760 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Happy demeanor, Abnormal pinna morphology, Ataxia, Hyperactivity, Gait disturbance, Macrotia, Thi... |
OMIM:614104 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Cognitive impairment, Progressive hearing impairment, Gait disturbance, Attention ... |
ORPHA:43 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Hypsarrhythmia, EEG with burst suppression |
OMIM:619239 |
Tay-Sachs Disease |
|
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Hyperactivity, Leukocytosis, Splenomegaly, Optic atrophy, Tremor, Difficulty walking, Cho... |
OMIM:615673 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Inability to walk, Hyperactivity, Opisthotonus, Self-mutilation, Gait ataxia, Agg... |
OMIM:103050 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Hyperactivity, Happy demeanor, EEG wit... |
ORPHA:98794 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia |
OMIM:618504 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dysmetria, Intention tremor, Mental deterioration, Dysdiadochokinesis, Optic atrop... |
OMIM:610217 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Lead Poisoning |
|
Cognitive impairment, Abnormality of the autonomic nervous system, Memory impairment, Imbalanced ... |
ORPHA:330015 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Inability to walk, Exaggerated startle response |
OMIM:609541 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the e... |
ORPHA:98791 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Akinesia, Ataxia, Hyperactivity, Blepharospasm, Mental deterioration, Acanthocytosis, Optic atrop... |
OMIM:234200 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
Acquired Methemoglobinemia |
|
Methemoglobinemia, Anxiety |
ORPHA:464453 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
Mucopolysaccharidosis, Type Iiic |
|
Hearing impairment, Hyperactivity, Motor deterioration, Splenomegaly |
OMIM:252930 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Apathy, Exaggerated startle response, Dementia |
OMIM:272750 |
Choreoacanthocytosis |
|
Laryngeal dystonia, Mental deterioration, Falls, Limb dystonia, Emotional lability, Bradyphrenia,... |
ORPHA:2388 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response, Low-set, posteriorly rotated ears |
OMIM:618598 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggres... |
ORPHA:449291 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Exaggerated startle response, External ear malformation, Anxiety, Dystonia |
ORPHA:438216 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Memory impairment, Gai... |
ORPHA:139396 |
Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:97214 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity |
OMIM:617600 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hepatosplenomegaly, Optic ... |
ORPHA:79330 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... |
OMIM:216400 |
Tay-Sachs Disease |
|
Inability to walk, Laryngeal dystonia, Dysmetria, Exaggerated startle response, Anxiety, Memory i... |
ORPHA:845 |
Sandhoff Disease |
|
Ataxia, Exaggerated startle response, Progressive psychomotor deterioration, Orthostatic hypotens... |
OMIM:268800 |
Legius Syndrome |
|
Hyperactivity, Cognitive impairment, Acute monocytic leukemia, Vestibular schwannoma, Attention d... |
ORPHA:137605 |
Castleman Disease |
|
Decreased mean corpuscular volume, Anemia, Thrombocytopenia |
ORPHA:160 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Postural hypotensio... |
OMIM:256800 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Mend Syndrome |
|
Low-set ears, Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials |
ORPHA:401973 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Abnormal hemoglobin, Self-injurious behavior, Optic atrophy, An... |
ORPHA:847 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... |
OMIM:133540 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Microtia |
OMIM:141750 |
Early Infantile Epileptic Encephalopathy |
|
EEG abnormality, Hyperactivity, EEG with spike-wave complexes, Self-injurious behavior, EEG with ... |
ORPHA:1934 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Hypsarrhythmia, Macrotia |
OMIM:615574 |
Trisomy 10P |
|
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... |
ORPHA:171929 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder, Low-set ears, Polyspl... |
OMIM:614294 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Emotional lability |
OMIM:620047 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Sensorineural hearing impairment, Microtia, Reduced alpha/beta synthesis ratio, Hypochromic micro... |
OMIM:301040 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor |
ORPHA:99819 |
Plaa-Associated Neurodevelopmental Disorder |
|
Sensorineural hearing impairment, Exaggerated startle response, Low-set, posteriorly rotated ears... |
ORPHA:521426 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor |
ORPHA:424 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment, Optic atrophy, Low-set ears, Posteriorly rota... |
OMIM:617527 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Argininemia |
|
Spastic gait, Hyperactivity, Irritability |
OMIM:207800 |
Gm1 Gangliosidosis Type 1 |
|
Low-set ears, Exaggerated startle response, Hepatosplenomegaly, Macrotia, Hearing impairment |
ORPHA:79255 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set ears, Hair-pulling |
ORPHA:447997 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Low-set ears, Exaggerated startle response |
OMIM:617301 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Hyperactivity, Self-mutilation, Orthostatic hypotension due to autonomic dysfunction, Abnormal em... |
ORPHA:642 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Protruding ear, Ataxia, Hyperactivity, Dysmetria, Hand tremor, Gait ataxia, Sho... |
OMIM:614756 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Exaggerated startle response |
OMIM:253800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Inability to walk, Exaggerated startle response, Optic disc pallor, Anemia, Dys... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Microtia, Small earlobe, Attention deficit hyperactivity disorder, ... |
OMIM:619522 |