Retinal Dysplasia, Primary |
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Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
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Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Optic Atrophy 8 |
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Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... |
OMIM:616648 |
Deafness, Autosomal Recessive 104 |
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Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
Immunodeficiency 24 |
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Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601382 |
Exudative Vitreoretinopathy 3 |
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Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Abcd Syndrome |
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Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... |
ORPHA:52368 |
Familial Exudative Vitreoretinopathy |
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Macular telangiectasia, Reduced bone mineral density, Macular exudate, Retinal neovascularization... |
ORPHA:891 |
Immunodeficiency 8 With Lymphoproliferation |
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Recurrent otitis media, Lymphopenia |
OMIM:615401 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
Immunodeficiency 18 |
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Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ... |
OMIM:615615 |
Immunodeficiency 50 |
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Neutropenia, Lymphopenia |
OMIM:300988 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Macular coloboma, Geographic atrophy, Sensorineural hearing impairment, Abnormal auditory evoked ... |
OMIM:619260 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... |
ORPHA:320401 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... |
OMIM:600059 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... |
OMIM:617519 |
Immunodeficiency 52 |
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Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... |
OMIM:617514 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Autoimmune hemolytic anemia, Recurrent otitis media, Splenomegaly, Lymphopenia, Autoimmune thromb... |
ORPHA:444463 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal... |
OMIM:616959 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Systemic Lupus Erythematosus 17 |
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Optic neuritis, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Leukodystrophy, Hypomyelinating, 13 |
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Optic atrophy, Delayed brainstem auditory evoked response conduction time, Exaggerated startle re... |
OMIM:616881 |
Immunodeficiency 13 |
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Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positiv... |
OMIM:615518 |
Cernunnos-Xlf Deficiency |
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Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia |
ORPHA:169079 |
Immunodeficiency 21 |
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Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
Immunodeficiency 76 |
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B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Leukodystrophy, Hypomyelinating, 5 |
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Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... |
OMIM:610532 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
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Hypochromic microcytic anemia, Absent brainstem auditory responses, Head titubation, Thrombocytop... |
ORPHA:3240 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Chorioretinal coloboma, Lymphopenia |
ORPHA:1116 |
Charcot-Marie-Tooth Disease, Type 4C |
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Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... |
OMIM:601596 |
Transcobalamin Deficiency |
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Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia |
ORPHA:859 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Eosinophilia, Lymphopenia |
ORPHA:2582 |
Cockayne Syndrome Type 1 |
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Optic atrophy, Anemia, Tremor, Absent brainstem auditory responses, Increased blood urea nitrogen... |
ORPHA:90321 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic atrophy, Exaggerated startle response, Optic disc pallor |
OMIM:609541 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... |
OMIM:619846 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic atrophy, Exaggerated startle response, Optic disc pallor |
ORPHA:320406 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Recurrent otitis media, Decreased proportion of CD8-positive T cells... |
OMIM:619802 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... |
OMIM:617780 |
Late-Infantile/Juvenile Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Recurrent otitis media, Lymphopenia, T lymphocytopenia |
ORPHA:277 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Recurrent otitis media, Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatospl... |
OMIM:618986 |
Infantile Krabbe Disease |
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Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
Sneddon Syndrome |
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Tremor, Facial palsy, Lymphopenia |
OMIM:182410 |
Mogs-Cdg |
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Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... |
ORPHA:79330 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... |
ORPHA:169154 |
Charcot-Marie-Tooth Disease Type 1F |
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Decreased nerve conduction velocity, Optic nerve hypoplasia, Sensorineural hearing impairment, Ab... |
ORPHA:101085 |
Hyperekplexia-Epilepsy Syndrome |
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EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, Sensorineural hearing impairment, Tremor, Abnormal auditory evoked poten... |
ORPHA:99027 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309246 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Adult Idiopathic Neutropenia |
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Monocytopenia, Monocytosis, Neutropenia, Lymphopenia |
ORPHA:2688 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Decreased nerve conduction velocity, Resting tremor, Abnormal auditory evoked pote... |
ORPHA:909 |
Sandhoff Disease, Infantile Form |
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Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
Immunodeficiency 85 And Autoimmunity |
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T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Cockayne Syndrome A |
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Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:216400 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Immunodeficiency 49 |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Optic nerve hypoplasia, EEG with generalized slow activity, Macrotia, Exaggerated startle response |
OMIM:617864 |
Tay-Sachs Disease |
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Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia |
ORPHA:529799 |
Immunodeficiency 36 With Lymphoproliferation |
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Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Bone Marrow Failure Syndrome 6 |
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Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
Autosomal Dominant Severe Congenital Neutropenia |
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Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
Pgm3-Cdg |
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Chronic otitis media, Decreased proportion of CD3-positive T cells, Neutropenia in presence of an... |
ORPHA:443811 |
Cockayne Syndrome B |
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Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:133540 |
Arthrogryposis, Distal, Type 2A |
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Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
Purine Nucleoside Phosphorylase Deficiency |
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Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... |
ORPHA:760 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Optic atrophy, Retinal detachment, Exaggerated startle response, Retinal dysplasia |
OMIM:253800 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... |
OMIM:609136 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
Sandhoff Disease |
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Orthostatic hypotension, Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle r... |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
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Optic atrophy, Macrotia, EEG abnormality, 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 |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... |
OMIM:242700 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Lymphopenia |
OMIM:207731 |
Glycine Encephalopathy With Normal Serum Glycine |
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Optic atrophy, Low-set ears, Exaggerated startle response |
OMIM:617301 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... |
ORPHA:276 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... |
OMIM:608643 |
Stiff-Person Syndrome |
|
Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Sensorineural hearing impairmen... |
ORPHA:521426 |
Tay-Sachs Disease |
|
Optic atrophy, Tremor, Exaggerated startle response, Hearing impairment, Dystonia, Cherry red spo... |
ORPHA:845 |
Gm1 Gangliosidosis Type 1 |
|
Low-set ears, Exaggerated startle response, Hearing impairment, Macrotia, Hepatosplenomegaly, Che... |
ORPHA:79255 |
Asparagine Synthetase Deficiency |
|
Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, Macrotia, Simple ea... |
OMIM:615574 |
Disabling Pansclerotic Morphea Of Childhood |
|
Neutropenia, Lymphopenia |
OMIM:620443 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Optic atrophy, Intention tremor, Head titubation, Dystonia, Lymphopenia |
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 |
|
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Posteriorly rotated ears, Lymphopenia, Hemo... |
OMIM:301110 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Otitis media, Lymphopenia, Abnormally low... |
OMIM:602450 |
Vici Syndrome |
|
Neutropenia, Sensorineural hearing impairment, Low-set ears, T lymphocytopenia, Decreased proport... |
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 |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytop... |
OMIM:600802 |
Ataxia-Telangiectasia |
|
Tremor, Hypoplasia of the thymus, T lymphocytopenia, Intention tremor, Acute lymphoblastic leukem... |
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 |
|
Optic atrophy, Low-set ears, Exaggerated startle response |
OMIM:620451 |
Trisomy 10P |
|
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... |
ORPHA:171929 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Anemia, B lymphocytopenia, Reticulocytopenia, Hearing impairment, Leukopenia, Thrombocytopenia, L... |
ORPHA:508542 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Posteriorly rotated ears, Exaggerated startle response, Low-set ears |
OMIM:617527 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypsarrhythmia, Exaggerated startle response, Dystonia, Thrombocytopenia, EEG with burst suppression |
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 |
|
Acute otitis media, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia... |
ORPHA:35078 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Anemia, Lymphopenia |
OMIM:620365 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Abnormal pinna morphology, Dystonia, 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 |
|
Absent natural killer cells, Neutropenia, Lymphopenia |
OMIM:617827 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Impaired lymphocyte transformation with phyt... |
OMIM:301000 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
EEG with generalized slow activity, Exaggerated startle response |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Anemia, Exaggerated startle response, Optic disc pallor |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears |
OMIM:619522 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
|
OMIM:615812 |