| Auditory Neuropathy, Autosomal Dominant 3 |
|
Abnormal speech discrimination, Hearing impairment |
OMIM:619832 |
| Deafness, Autosomal Recessive 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
| Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
| Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
| Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
| Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
| Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
| Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
| Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
| Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
| Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
| Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
| Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
| Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
| Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
| Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
| Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
| Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
| Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
| Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
| Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
| Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
| Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
| Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment |
OMIM:601369 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Meniere Disease |
|
Vertigo, Tinnitus, Hearing impairment |
OMIM:156000 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
| Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Hypochromic microcyti... |
ORPHA:3240 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
| 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 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal... |
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 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Tremor, Optic atrophy, Anemia, Macrotia, Abnormality of peri... |
ORPHA:90321 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic... |
ORPHA:98791 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Overfolded helix, Cupped ear, Low-set ears |
OMIM:617101 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity |
OMIM:617864 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
| Cerebrotendinous Xanthomatosis |
|
Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas... |
ORPHA:909 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Sensorineural hearing impairment, HbH hemoglobin, Low-set ears |
ORPHA:423479 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Cupped ear, Persistence ... |
OMIM:617052 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Developmental And Epileptic Encephalopathy 49 |
|
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Splenomegaly, Decreased n... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Splenomegaly, Decreased n... |
OMIM:216400 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Optic atrophy, Hepatosplenomegaly, Dystonia, Laryngeal dyst... |
ORPHA:845 |
| Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension, Hepatosplenomegaly |
OMIM:268800 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Low-set ears, Dystonia, Macrotia, Hearing impai... |
ORPHA:79255 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Abnormal hemoglobin, Sensorineural hearing impairment, Optic atrophy, Anemia |
ORPHA:847 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617301 |
| Lead Poisoning |
|
Abnormality of the autonomic nervous system, Imbalanced hemoglobin synthesis, Anemia, Abnormal T ... |
ORPHA:330015 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Reduced alpha/beta synthesis ratio, H... |
OMIM:301040 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617527 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy |
OMIM:253800 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Anemia, Dystonia |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe |
OMIM:619522 |
