Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... |
OMIM:615897 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Hearing impairment, Polycyth... |
OMIM:600501 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... |
ORPHA:52368 |
Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent otitis media, Lymphopenia |
OMIM:615401 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer morphology, A... |
ORPHA:1215 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abnormal B cell count, De... |
OMIM:615615 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal degeneration, ... |
OMIM:619260 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thromb... |
ORPHA:444463 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina... |
OMIM:616959 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Optic neuritis, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... |
OMIM:616881 |
Immunodeficiency 13 |
|
Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positiv... |
OMIM:615518 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcytic an... |
ORPHA:3240 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Chorioretinal coloboma |
ORPHA:1116 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Pigmentary retinopathy, Hearing impairment, Abnormality of peripheral nerve conduc... |
ORPHA:90321 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Exaggerated startle response |
OMIM:609541 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... |
OMIM:619846 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hearing impairment, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic... |
OMIM:617780 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent otitis media, Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Recurrent otitis media, Lymphopenia, Hepato... |
OMIM:618986 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Ch... |
ORPHA:206436 |
Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... |
ORPHA:79330 |
Sneddon Syndrome |
|
Lymphopenia, Facial palsy, Tremor |
OMIM:182410 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... |
ORPHA:101085 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... |
ORPHA:99027 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309246 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Resting tre... |
ORPHA:909 |
Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309155 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
Cockayne Syndrome A |
|
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith... |
OMIM:216400 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
EEG with generalized slow activity, Exaggerated startle response, Macrotia, Optic nerve hypoplasia |
OMIM:617864 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Tay-Sachs Disease |
|
Exaggerated startle response, Cherry red spot of the macula |
OMIM:272800 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment |
ORPHA:529799 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Pgm3-Cdg |
|
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Mild neurosensory hearing impairment, ... |
ORPHA:443811 |
Cockayne Syndrome B |
|
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Decreased nerve condu... |
OMIM:133540 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Sensorineural hearing impairment, Abnormal T cell morph... |
ORPHA:760 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Retinal dysplasia, Retinal detachment, Exaggerated startle response |
OMIM:253800 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Hep... |
OMIM:609136 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
Sandhoff Disease |
|
Hepatosplenomegaly, Orthostatic hypotension, Exaggerated startle response, Cherry red spot of the... |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, EEG abnormality, Macrotia, Exaggerated startle response |
OMIM:617281 |
Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Low-set ears, Optic atrophy, Exaggerated startle response |
OMIM:617301 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... |
ORPHA:276 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
Stiff-Person Syndrome |
|
Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... |
ORPHA:521426 |
Tay-Sachs Disease |
|
Optic atrophy, Hearing impairment, Laryngeal dystonia, Cherry red spot of the macula, Tremor, Exa... |
ORPHA:845 |
Gm1 Gangliosidosis Type 1 |
|
Low-set ears, Hearing impairment, Cherry red spot of the macula, Hepatosplenomegaly, Exaggerated ... |
ORPHA:79255 |
Asparagine Synthetase Deficiency |
|
EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated startle response, Mac... |
OMIM:615574 |
Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Optic atrophy, Lymphopenia, Head titubation, Dystonia, Intention tremor |
OMIM:619708 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Hearing impairment, Exaggerated startle response |
OMIM:620114 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Low-set ears, Posteriorly rotated ears, Exaggerated startle response |
OMIM:618598 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Posteriorly rotated ears, Neutropenia, Schistocytosis, Anemia, Thrombocy... |
OMIM:301110 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Otitis media, Splenomegaly, Ap... |
OMIM:602450 |
Vici Syndrome |
|
Low-set ears, Hypopigmentation of the fundus, Ocular albinism, Lymphopenia, Leukopenia, Decreased... |
OMIM:242840 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hearing impairment, Tremor, Exaggerated startle response |
OMIM:620327 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Recurrent otitis media, Lymphopenia, Impaired lymphocyte transformat... |
OMIM:600802 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Intention tremor, Tremor, Abnor... |
OMIM:208900 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Low-set ears, Optic atrophy, Exaggerated startle response |
OMIM:620451 |
Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... |
ORPHA:171929 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Hearing impairment, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, T... |
ORPHA:508542 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Low-set ears, Optic atrophy, Posteriorly rotated ears, Exaggerated startle response |
OMIM:617527 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
EEG with burst suppression, Hypsarrhythmia, Thrombocytopenia, Exaggerated startle response, Dystonia |
OMIM:620423 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Impaired lympho... |
ORPHA:35078 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Abnormal pinna morphology, Exaggerated startle response |
ORPHA:438216 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Recurrent otitis media, Lymphopenia, Decreased proportion of CD8-... |
OMIM:301000 |
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 |
|
Anemia, Optic disc pallor, Dystonia, Exaggerated startle response |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Small earlobe, Microtia |
OMIM:619522 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
|
OMIM:615812 |