Leber Hereditary Optic Neuropathy, Modifier Of |
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Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinitis Pigmentosa 36 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Leber Congenital Amaurosis 13 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Optic Atrophy 2 |
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Tremor, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
Ceroid Lipofuscinosis, Neuronal, 9 |
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Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod-cone dystrophy |
OMIM:609055 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Splenomegaly, Ataxia, Gait disturbance, Hepatomegaly |
ORPHA:2274 |
Stargardt Disease |
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Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinitis Pigmentosa 30 |
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Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Spastic Ataxia 7, Autosomal Dominant |
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Spastic ataxia, Dysdiadochokinesis, Optic atrophy |
OMIM:108650 |
Retinitis Pigmentosa 57 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Limb dystonia, Impulsivity, Tremor, Optic atrophy, Depression, Focal dystonia, Irritability, Gait... |
ORPHA:216873 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
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Optic atrophy, Ataxia |
OMIM:136600 |
Retinitis Pigmentosa 71 |
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Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Bleeding Disorder, Platelet-Type, 24 |
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Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Auditory Neuropathy And Optic Atrophy |
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Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Retinitis Pigmentosa 33 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Optic Atrophy 5 |
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Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
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Inability to walk, Optic atrophy, Microcephaly |
OMIM:618572 |
Ceroid Lipofuscinosis, Neuronal, 1 |
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Ataxia, Vacuolated lymphocytes, Optic atrophy, Depression, Irritability, Macular degeneration, Pr... |
OMIM:256730 |
Spastic Paraplegia 43, Autosomal Recessive |
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Loss of ambulation, Optic atrophy, Gait disturbance |
OMIM:615043 |
Bleeding Disorder, Platelet-Type, 16 |
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Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Fetal Cytomegalovirus Syndrome |
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Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
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Severe temper tantrums, Hemidystonia, Optic atrophy, Bradykinesia, Spastic gait |
OMIM:619052 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
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Ataxia, Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Retinitis Pigmentosa 81 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
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Ataxia, Microcephaly, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
Retinitis Pigmentosa 95 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Glut1 Deficiency Syndrome 2 |
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Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... |
OMIM:612126 |
Optic Atrophy 9 |
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Optic disc pallor, Optic atrophy |
OMIM:616289 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Optic Atrophy 3, Autosomal Dominant |
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Tremor, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait, Aggressive behavior, Microcephaly, Tremor, Optic atrophy, Abnorm... |
OMIM:619470 |
Developmental And Epileptic Encephalopathy 58 |
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Inability to walk, Optic atrophy, Abnormal repetitive mannerisms, Secondary microcephaly |
OMIM:617830 |
Bleeding Disorder, Platelet-Type, 15 |
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Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
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Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance |
OMIM:616859 |
Aicardi-Goutieres Syndrome 6 |
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Hemolytic anemia, Hepatomegaly, Microcephaly, Tremor, Splenomegaly, Irritability, Dystonia, Loss ... |
OMIM:615010 |
Early-Onset X-Linked Optic Atrophy |
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Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Optic Atrophy--Spastic Paraplegia Syndrome |
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Optic atrophy |
OMIM:311100 |
Wolfram-Like Syndrome, Autosomal Dominant |
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Optic disc pallor, Optic atrophy, Depression |
OMIM:614296 |
Striatonigral Degeneration, Infantile |
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Choreoathetosis, Dystonia, Optic atrophy, Dysphagia |
OMIM:271930 |
Ceroid Lipofuscinosis, Neuronal, 11 |
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Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614706 |
Bornholm Eye Disease |
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Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
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Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Liberfarb Syndrome |
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Optic disc pallor, Bone spicule pigmentation of the retina, Microcephaly, Retinal pigment epithel... |
OMIM:618889 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Hepatomegaly, Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, ... |
ORPHA:79312 |
Retinitis Pigmentosa 28 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
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Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia, Inability to walk,... |
OMIM:619389 |
Platelet Glycoprotein Iv Deficiency |
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Giant platelets, Thrombocytopenia |
OMIM:608404 |
Birdshot Chorioretinopathy |
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Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Sitosterolemia 1 |
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Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
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Dystonia, Optic atrophy, Ataxia, Dysphagia |
ORPHA:1171 |
Bernard-Soulier Syndrome |
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Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Giant platelet syndrome with thrombocytopenia |
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Giant platelets, Thrombocytopenia |
OMIM:137560 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
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Hypoplasia of the fovea, Optic atrophy, Microcephaly |
OMIM:620086 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
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Optic atrophy, Inappropriate laughter, Gait ataxia |
OMIM:619323 |
Leber Congenital Amaurosis 19 |
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Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
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Microcephaly, Optic atrophy, Truncal ataxia |
OMIM:611726 |
Myh9-Related Disease |
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Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
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Spastic ataxia, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:2572 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Hyperactivity, Microcephaly, Optic atrophy, Coloboma, Lethargy |
OMIM:274270 |
Wagner Vitreoretinopathy |
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Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Intellectual Developmental Disorder, X-Linked 104 |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Hepatomegaly, Dystonia, Optic atrophy, Irritability, Pigmentary retinopathy, Dysphagia, Diffuse h... |
OMIM:264470 |
Glaucoma 1, Open Angle, P |
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Increased cup-to-disc ratio |
OMIM:177700 |
Spinocerebellar Ataxia 7 |
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Tremor, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cereb... |
OMIM:164500 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
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Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Dysphagia, Intention tremor |
OMIM:620221 |
Camos Syndrome |
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Optic atrophy, Ataxia, Microcephaly |
ORPHA:83472 |
Peripheral Cone Dystrophy |
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Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Bleeding Disorder, Platelet-Type, 21 |
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Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Niemann-Pick Disease, Type B |
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Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
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Peripheral axonal neuropathy, Ataxia, Optic atrophy, Depression, Difficulty walking |
OMIM:619425 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Salt And Pepper Developmental Regression Syndrome |
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Choreoathetosis, Irritability, Optic atrophy, Microcephaly |
OMIM:609056 |
Thrombocytopenia 4 |
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Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Mantle Cell Lymphoma |
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Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
Combined Saposin Deficiency |
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Splenomegaly, Optic atrophy, Hepatomegaly |
OMIM:611721 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Usher Syndrome, Type Iiib |
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Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels |
OMIM:614504 |
Ceroid Lipofuscinosis, Neuronal, 7 |
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Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia |
OMIM:610951 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Nescav Syndrome |
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Peripheral axonal neuropathy, Ataxia, Microcephaly, Inability to walk, Optic atrophy |
OMIM:614255 |
Spastic Ataxia 4, Autosomal Recessive |
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Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Emotional lability |
OMIM:613672 |
Ceroid Lipofuscinosis, Neuronal, 3 |
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Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrop... |
OMIM:204200 |
Autosomal Recessive Progressive External Ophthalmoplegia |
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Ataxia, Facial palsy, Abnormal retinal morphology, Elevated circulating creatine kinase concentra... |
ORPHA:254886 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
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Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Leber Optic Atrophy And Dystonia |
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Dystonia, Optic atrophy, Bradykinesia, Athetosis, Leber optic atrophy, Dysphagia |
OMIM:500001 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
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Optic disc pallor, Inability to walk, Optic atrophy, Secondary microcephaly, Dysphagia |
OMIM:617086 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity |
ORPHA:104 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
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Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance |
ORPHA:3151 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
Takenouchi-Kosaki Syndrome |
|
Ataxia, Increased mean platelet volume, Optic atrophy, Progressive microcephaly, Thrombocytopenia |
OMIM:616737 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Aggressive behavior, Optic atroph... |
OMIM:300438 |
Wolfram-Like Syndrome |
|
Progressive cerebellar ataxia, Peripheral axonal neuropathy, Optic atrophy, Depression |
ORPHA:411590 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiad... |
ORPHA:254881 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
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Ataxia, Optic atrophy, Depression, Dysphagia, Sensory axonal neuropathy |
ORPHA:329314 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Inability to walk, Optic atrophy, Microcephaly |
OMIM:618768 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Dystonia, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Leth... |
ORPHA:289916 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Trimethylaminuria |
|
Splenomegaly, Neutropenia, Anemia, Depression |
OMIM:602079 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Tremor, Optic atrophy, Bradykinesia, Abnormal autonomic nervous system physi... |
ORPHA:329284 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia |
ORPHA:1068 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Optic atrophy, Irritability, Athetosis, Gait disturbance, Secondary microcepha... |
OMIM:618241 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Gait ataxia, Hepatosplenomegaly, Progressive cerebellar ataxia, Hepatic fibrosis, ... |
ORPHA:466794 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Microcephaly, Elevated circulating acylcarnitine concentration, Optic atrophy, Dystonia, Lethargy... |
ORPHA:26792 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Irritability, Dystonia, Ab... |
ORPHA:457205 |
Sandhoff Disease |
|
Splenomegaly, Cherry red spot of the macula, Ataxia, Hepatomegaly |
ORPHA:796 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, At... |
OMIM:615673 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Chore... |
ORPHA:27 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Pseudobulbar paralysis, Microcephaly, Attenuation of retinal blood vessels |
OMIM:617082 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypopl... |
ORPHA:33445 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Microcephaly, Splenomegaly, Gait apraxia, Optic at... |
OMIM:617302 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Developmental And Epileptic Encephalopathy 16 |
|
Dystonia, Optic atrophy, Secondary microcephaly, Microcephaly |
OMIM:615338 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Aggressive behavior, Optic atrophy, Exudative vitreoretinopathy, Dysphagia, Primary... |
OMIM:615075 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Microcephaly, S... |
ORPHA:2585 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Microcephaly, Aggressive behavior |
ORPHA:208441 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Bruxism, Choreoathetosis, Dysphagia, Retinopathy, Self-m... |
OMIM:619422 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal dystrophy, Anorexia, Megaloblastic anemia, Optic atrophy, Lethargy, Thrombocytopenia |
ORPHA:49827 |
Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Inability to walk, Optic atrophy, Irritability, Lethargy |
ORPHA:314911 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... |
OMIM:311070 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Hsd10 Disease |
|
Ataxia, Microcephaly, Tremor, Optic atrophy, Choreoathetosis, Gait disturbance, Dysphagia |
ORPHA:391417 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... |
OMIM:204100 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Dystonia, Ataxia, Microcephaly, Optic atrophy, Irritability, Dysphagia, Lethargy, P... |
OMIM:618226 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... |
OMIM:222470 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Sarcosinemia |
|
Emotional lability, Hypersarcosinemia, Optic atrophy, Ataxia |
ORPHA:3129 |
Cln3 Disease |
|
Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Depre... |
ORPHA:228346 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Optic atrophy, Truncal ataxia, Dysmetria, Hypoplastic optic chiasm... |
OMIM:210000 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia |
ORPHA:330050 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir... |
ORPHA:644 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor, Left ventricular hypertrophy |
OMIM:618632 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anem... |
OMIM:611490 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Merrf |
|
Optic atrophy, Ataxia |
ORPHA:551 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia |
ORPHA:65288 |
Leukodystrophy, Hypomyelinating, 21 |
|
Ataxia, Microcephaly, Optic atrophy, Athetosis, Dystonia |
OMIM:619310 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Secondary microcephaly, Dystonia |
OMIM:617954 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia |
ORPHA:1186 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Emotional lability, Progressive gait ataxia, Optic atrophy, Progressive cerebellar ataxia |
ORPHA:254343 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Optic disc pallor, Dysphagia, Dystonia, Pancreatitis |
OMIM:618230 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul... |
ORPHA:157850 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Dystonia, Ataxia, Optic atrophy, Truncal ataxia, Dysmetria, Gait at... |
OMIM:601338 |
Infantile Cerebellar-Retinal Degeneration |
|
Retinal dystrophy, Ataxia, Microcephaly, Optic atrophy, Athetosis, Progressive microcephaly |
OMIM:614559 |
Lathosterolosis |
|
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Microcephaly, Intrahepatic ... |
OMIM:607330 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intenti... |
OMIM:610539 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia |
ORPHA:250972 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning, Ataxia |
OMIM:618970 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Unsteady gait, Optic atrophy, Nonketotic hype... |
ORPHA:401866 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia |
OMIM:218670 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Secondary... |
OMIM:617166 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Abnormality of macular pigm... |
ORPHA:97229 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Ataxia, Microcephaly, Unsteady gait, Optic atrophy, Dystonia, Hyperalan... |
OMIM:245349 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Microcephaly, Giant platelets, Anemia, Progressive microcephaly, Left ventricular hypertrophy, Th... |
OMIM:611209 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Optic atrophy, Cessation of head growth, Gait disturbance, Emotional lability, Let... |
OMIM:603896 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Irritability, Optic atrophy, Dystonia |
OMIM:618237 |
Leber Congenital Amaurosis 14 |
|
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Microcephaly, Athetosis, Dysphagia, Impaired oral bolus formation |
OMIM:617235 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Unsteady gait, Optic atrophy |
OMIM:620312 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Pigmentary retinopathy,... |
ORPHA:216866 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Hepatomegaly, Optic atrophy, Irritability, Primary microcephaly |
OMIM:607196 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Microcephaly, Optic atrophy, Difficulty wal... |
ORPHA:401768 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Splenomegaly, O... |
OMIM:608799 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Peroxisome Biogenesis Disorder 8B |
|
Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic acid conce... |
OMIM:614877 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal... |
OMIM:609541 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Unsteady gait, Optic atrophy |
OMIM:620314 |
Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ... |
ORPHA:84064 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Mucolipidosis Iv |
|
Microcephaly, Abnormal abdomen morphology, Optic atrophy, Dystonia, Retinal degeneration |
OMIM:252650 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Dystonia, Cardiomegaly, Microcephaly, Optic atrophy, Hyperammonemia, Choreoathetosi... |
ORPHA:391428 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Dys... |
OMIM:617964 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
X-Linked Intellectual Disability, Najm Type |
|
Cerebral cortical atrophy, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Optic nerve hypoplasia |
OMIM:614306 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric ly... |
OMIM:209950 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:99014 |
Cach Syndrome |
|
Microcephaly, Optic atrophy, Truncal ataxia, Dysmetria, Hepatosplenomegaly, Limb ataxia, Irritabi... |
ORPHA:135 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Microcephaly, Abnormality of the lymphatic system, Optic atrophy,... |
ORPHA:487796 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Ataxia |
ORPHA:85297 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Optic atrophy, Athetosis, Dystonia, Self-mutilation |
OMIM:250950 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Depression, Thrombocytopenia |
OMIM:231000 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Inability to walk, Lymphad... |
OMIM:257200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia |
OMIM:615181 |
Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar ataxia,... |
ORPHA:98755 |
Joubert Syndrome 33 |
|
Cone/cone-rod dystrophy, Splenomegaly, Ataxia |
OMIM:617767 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Dysmetria, Athetosis,... |
OMIM:617710 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevated circulating creati... |
OMIM:614298 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ... |
OMIM:249270 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Ascites, Abnormal macular morphology |
ORPHA:87876 |
Spastic Paraplegia 2, X-Linked |
|
Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria |
OMIM:312920 |
Leukodystrophy, Hypomyelinating, 15 |
|
Dystonia, Ataxia, Microcephaly, Optic atrophy, Athetosis, Dysphagia, Loss of ambulation, Intentio... |
OMIM:617951 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... |
OMIM:616860 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine... |
OMIM:620010 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia |
OMIM:616732 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Irritability, Cherry red spot of the macula, Ataxia, Optic disc pallor |
OMIM:615281 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia |
OMIM:617810 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria |
OMIM:605259 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
Pontocerebellar Hypoplasia, Type 9 |
|
Peripheral axonal neuropathy, Dystonia, Optic atrophy, Irritability, Secondary microcephaly, Dysp... |
OMIM:615809 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
OMIM:607115 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dystonia, Facial palsy, Elevated circulating creatine kinase concentration, Optic atrophy, Trunca... |
OMIM:258450 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Ataxia, Head titubation, Optic atrophy, Dysmetria, Intention tremor |
OMIM:618688 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, Hepatic bridging ... |
OMIM:616719 |
4H Leukodystrophy |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, ... |
ORPHA:289494 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly, Dystonia, Dysphagia |
ORPHA:77260 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Irritabili... |
ORPHA:848 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly |
ORPHA:86893 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Microcephaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619170 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Microcephaly, Tremor, Unsteady gait, Optic atrophy, Attention deficit hypera... |
ORPHA:442835 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Torticollis, Dysphagia |
OMIM:619686 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Microcephaly |
OMIM:613151 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Progressive microcephaly, Dystonia,... |
OMIM:610333 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Abnormal emotion, Lethargy, Depression |
ORPHA:238624 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Postural tremor, Tremor, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation |
OMIM:607694 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Dystonia, Emotional lability |
OMIM:256000 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
5Q14.3 Microdeletion Syndrome |
|
Frontal cortical atrophy, Optic nerve hypoplasia |
ORPHA:228384 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, D... |
OMIM:271245 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Microcephaly, Retinal pigment epithelial mottling, Chorio... |
ORPHA:448237 |
Developmental And Epileptic Encephalopathy 61 |
|
Loss of ambulation, Optic atrophy, Secondary microcephaly |
OMIM:617933 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Optic atrophy, Irritability, Difficulty walking, Dystonia |
ORPHA:79097 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Aggressive behavior, Optic atrophy, Dysphagia |
OMIM:614707 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Microcephaly, Tremor, I... |
OMIM:312080 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gait, Dysphagia, ... |
ORPHA:289560 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Loss ... |
ORPHA:225154 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, Tremor, Inability to... |
ORPHA:845 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Restlessness, Optic disc pallor, Elevated circulating hexacosanoic acid concentration, Microcepha... |
OMIM:614388 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Optic atrophy, Dysphagia, Gait disturbance, Limb ... |
ORPHA:508093 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... |
OMIM:610743 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... |
ORPHA:158029 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary retinopathy... |
OMIM:222300 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Postural tremor, Optic atrophy, Abnormal circulating cholesterol concentration, Limb dysmetria, S... |
OMIM:270800 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C... |
ORPHA:309246 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... |
OMIM:256600 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... |
OMIM:598500 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Dystonia, Optic atrophy, Microcephaly |
OMIM:300475 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomeg... |
ORPHA:507 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Ataxia, Optic atrophy, Left ventricular hypertrophy, Lethargy |
OMIM:618228 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Depression, Pigmentary retinopathy, Dysphagia, Loss of ambulation, Emotional l... |
ORPHA:79264 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Microcephaly, Tremor, Optic atrophy, Choreoathetosis, Dystonia |
OMIM:612438 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Optic atrophy, Progressive microcephaly |
ORPHA:477814 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Leber Optic Atrophy |
|
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... |
OMIM:535000 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Dystonia |
OMIM:612319 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Central ner... |
ORPHA:447788 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, O... |
ORPHA:52368 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Spastic Paraplegia Type 7 |
|
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Spastic gait |
ORPHA:99013 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Dystonia, Ataxia, Optic atrophy, Blepharospasm, Pigmentary retinopathy, Atheto... |
OMIM:617282 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Microcephaly, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dysphagia |
OMIM:617664 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Titubation... |
ORPHA:98768 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D... |
OMIM:300842 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Dysphagia |
ORPHA:1177 |
Isolated Atp Synthase Deficiency |
|
Hyperalaninemia, Hepatomegaly, Ataxia, Microcephaly, Optic atrophy, Hyperammonemia, Dystonia, Let... |
ORPHA:254913 |
Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase co... |
OMIM:610377 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Dysphagia, Hyperammonemia, Irritability, Neutropenia, Loss of ambulation, Craniofa... |
OMIM:618253 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia |
OMIM:616204 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Agitation, Hy... |
OMIM:619046 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Ataxia, Akinesia, Retinal degeneration, Acanthocytosis, Tremor, Optic at... |
OMIM:234200 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Ataxia, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Acanthocytosis,... |
ORPHA:96180 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Microcephaly, Splenomegaly, Jaundice, Anemia, ... |
ORPHA:290 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Peripheral axonal neuropathy, Ataxia, Dystonia, Impulsivity, Unsteady gait, Optic ... |
ORPHA:35069 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Irritability, Cherry red spot of the macula |
OMIM:228000 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ... |
OMIM:608804 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma |
ORPHA:1473 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Ab... |
ORPHA:100924 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Chorioretinal dysplasia, Aggressive behavior, Microcephaly, Chorioretinal lac... |
OMIM:152950 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia |
ORPHA:137634 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag... |
OMIM:607259 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Gait disturb... |
OMIM:250100 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Microcephaly, Optic atrophy, Gait ataxia, Difficulty walking, Dystonia, Abnorma... |
OMIM:617807 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... |
ORPHA:1451 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Gait ataxia, Dysphagia |
ORPHA:1947 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Ataxia, Microcephaly, Splenomegaly, Irritability, Cirrhosis |
OMIM:613489 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Hyperalaninemia, Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Abn... |
OMIM:615838 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Depression, Gait di... |
OMIM:619259 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Inability to walk, Irritability |
OMIM:617864 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Dysphagia, Loss of ambulation... |
ORPHA:93399 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Thrombocytopenia, Splenom... |
OMIM:603553 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia |
ORPHA:496790 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Microcephaly, Inability to walk, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia |
OMIM:614739 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Dystonia, Optic atrophy, Dysphagia, Progressive cerebellar ataxia, Prolonged neonatal jaundice |
OMIM:618868 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Ataxia, Hepatosplenomegaly, Depression |
ORPHA:309288 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Microcephaly, Optic atrophy, Aggressive behavior |
ORPHA:369939 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella... |
ORPHA:363429 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia |
OMIM:614979 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Microcephaly, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thr... |
OMIM:603585 |
Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
Infantile Refsum Disease |
|
Hepatomegaly, Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentrati... |
ORPHA:772 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Dystonia, Inability to walk, Optic atrophy, Dysmetria,... |
ORPHA:95 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Arts Syndrome |
|
Optic atrophy, Ataxia, Dysphagia |
OMIM:301835 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
Wilson Disease |
|
Hepatomegaly, Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Jaundice, Hepa... |
ORPHA:905 |
Srd5A3-Cdg |
|
Optic disc hypoplasia, Ataxia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dystrophy |
ORPHA:324737 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Microcephaly, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive... |
ORPHA:530983 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Portal hypertension, Thromboc... |
ORPHA:824 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Rod-cone dystrophy, Intent... |
OMIM:612674 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Decreas... |
OMIM:214500 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... |
OMIM:609033 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Facial palsy, Microc... |
OMIM:259720 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Microcephaly, Optic atro... |
OMIM:619487 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... |
OMIM:601152 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Ascites |
OMIM:614702 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Dystonia, Microcephaly, Optic atrophy, Opisthotonus, Dysphagia, Progressive microce... |
OMIM:277470 |
Stt3B-Cdg |
|
Optic atrophy, Thrombocytopenia, Microcephaly |
ORPHA:370924 |
Triple A Syndrome |
|
Ataxia, Microcephaly, Optic atrophy, Iris coloboma, Motor axonal neuropathy |
ORPHA:869 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional labilit... |
OMIM:201100 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia |
OMIM:618736 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, I... |
OMIM:614381 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Dystonia, Ataxia, Postural tremor, Optic atrophy, Dysmetria, Autonomic bladder dysfunction, Dysph... |
ORPHA:447896 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdia... |
OMIM:610217 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Dystonia, Tremor, Sple... |
OMIM:615512 |
Developmental And Epileptic Encephalopathy 93 |
|
Microcephaly, Inability to walk, Optic atrophy, Gait disturbance, Iris coloboma |
OMIM:618012 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Thrombocytopenia, Microcephaly |
OMIM:615597 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Peripheral axonal neuropath... |
OMIM:205400 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Optic nerve hypoplasia |
OMIM:614833 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... |
OMIM:214900 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia |
OMIM:618233 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Pigmentary retin... |
ORPHA:502423 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation concentrati... |
ORPHA:309854 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Coach Syndrome 1 |
|
Optic disc pallor, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Abnormal abdomen morp... |
OMIM:216360 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Faci... |
OMIM:259700 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... |
OMIM:226990 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Ataxia, Morning glory anomaly, Optic atrophy, Gait disturbance, Dysphagia, Tem... |
ORPHA:98673 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking |
ORPHA:529665 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy... |
OMIM:618249 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Truncal titubation, Optic atrophy, Gait ataxia |
OMIM:618800 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Retinal dystrophy, Optic nerve hypoplasia, Global brain atrophy |
OMIM:300953 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Secondary microcephaly, Hepatomegaly |
OMIM:613730 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Gait disturbance, Sea-blue histiocytosis, Dysp... |
OMIM:230600 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Ataxia, Abnormality of neutrophils, Splen... |
ORPHA:381 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Microvesicular hepatic steatosis, Optic atrophy, Hypochro... |
ORPHA:66634 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Optic atrophy, Optic nerve hypoplasia |
ORPHA:370959 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Cardiomegaly, Hepato... |
OMIM:268800 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Microcephaly, Thrombocytopenia, Splenomegaly, Inability to walk, Optic atrophy, Leu... |
OMIM:617303 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Microcephaly, Spl... |
OMIM:614576 |
Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:171680 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Bulimia, Optic atrophy |
OMIM:614651 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... |
OMIM:612840 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Ataxia, Postural tremor, Head titubation, Optic atrophy, Opto-chiasmatic atrophy, Dysmetria, Loss... |
OMIM:615491 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... |
ORPHA:423479 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:85284 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Optic atrophy, Gait ataxia, Progressive cer... |
ORPHA:95433 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Microvesicular hepatic steatosis, Optic atrophy, Normochromic microcytic anemia, Nonprogr... |
OMIM:610198 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Microcephaly, Thrombocytopenia, Dysmetria, Vitreous hemo... |
OMIM:620185 |
Meningococcal Meningitis |
|
Papilledema, Elevated circulating C-reactive protein concentration, Anorexia, Irritability, Lethargy |
ORPHA:33475 |
Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy, Dysphagia |
ORPHA:137867 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia |
OMIM:618828 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Optic atrophy, Depression, Progressive gait ataxia, Falls, Dysphagia, Loss ... |
ORPHA:329308 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Microcephaly, Splenomegaly, Optic atrophy, Abn... |
ORPHA:585 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy, Ataxia |
OMIM:618248 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Optic nerve hypoplasia |
OMIM:618381 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Optic nerve hypoplasia |
ORPHA:572013 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemi... |
OMIM:251900 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia |
OMIM:607597 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm... |
ORPHA:485421 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Microcephaly, Optic atrophy, Abnormal autonomic nervous system physiology, Hepatosplenomegaly |
ORPHA:466934 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Yell... |
ORPHA:93400 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Angelman Syndrome |
|
Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Microcephaly, In... |
ORPHA:72 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand tremor, Step... |
ORPHA:101076 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Loss of ... |
ORPHA:2388 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Ataxia, Optic atrophy, Facial diplegia, Dysphagia, Facial paralysis |
OMIM:613559 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Optic atrophy, Hypoplastic optic chiasm, Dysphagia, Dystonia |
OMIM:617669 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Microcephaly, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia |
ORPHA:702 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Cholecystitis, Dysto... |
ORPHA:309263 |
Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Hyperammonemia, Lethargy |
OMIM:253260 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait ataxia,... |
OMIM:257220 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Pure red cell aplasia, Autoimmune thrombocytop... |
OMIM:613179 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... |
ORPHA:254930 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Secondary micro... |
OMIM:618056 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Truncal ataxia, Dysm... |
OMIM:164400 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Anemia, Depression |
OMIM:184850 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Microcephaly, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy |
OMIM:616811 |
Birk-Landau-Perez Syndrome |
|
Dystonia, Microcephaly, Optic atrophy, Hyperkalemia, Limb ataxia, Choreoathetosis, Difficulty wal... |
OMIM:617595 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Verheij Syndrome |
|
Optic nerve hypoplasia, Cerebral atrophy |
OMIM:615583 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Microcephaly, Optic atrophy, Dysphagia |
OMIM:617301 |
Joubert Syndrome 8 |
|
Optic disc pallor, Hepatomegaly, Ataxia, Pigmentary retinopathy, Prolonged neonatal jaundice |
OMIM:612291 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Elevated circulating C-reactive protein ... |
OMIM:615688 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Spastic Paraplegia Type 2 |
|
Optic atrophy, Spastic gait, Ataxia |
ORPHA:99015 |
Pontocerebellar Hypoplasia, Type 2E |
|
Microcephaly, Optic atrophy, Opisthotonus, Irritability, Secondary microcephaly, Progressive micr... |
OMIM:615851 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Decreased nerve conduction velocity, Optic atrophy, Depression, Progressive gait ataxia... |
ORPHA:309271 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Dystonia, Optic atrophy, Dysphagia, Increased cup-to-disc ratio, Secondary microcephaly, Primary ... |
ORPHA:500144 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Ataxia, Portal hypertension, Tremor, Splenomegaly, Congenital hepatic fibrosis, Opt... |
ORPHA:1454 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:615033 |
Amish Lethal Microcephaly |
|
Irritability, Microcephaly, Optic atrophy, Hepatomegaly |
ORPHA:99742 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Microcephaly, O... |
OMIM:213300 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Hepatomegaly, Ataxia, Secondary microcephaly, Dystonia, Left ventricular hyper... |
OMIM:619167 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Ataxia, Hypouricemia, Abnormal erythrocyte enzyme leve... |
ORPHA:1187 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Microphthalmia, Syndromic 5 |
|
Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysphagia, Microcepha... |
OMIM:616878 |
Pettigrew Syndrome |
|
Aggressive behavior, Microcephaly, Optic atrophy, Gait ataxia, Choreoathetosis, Self-injurious be... |
OMIM:304340 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... |
ORPHA:822 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Cardiofaciocutaneous Syndrome 4 |
|
Optic nerve hypoplasia |
OMIM:615280 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Optic atrophy, Exaggerated startle response, Microcephaly |
OMIM:617281 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia |
OMIM:615879 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Microcephaly, Inability to walk, Splenomegaly, Optic atrophy, Hypokalem... |
OMIM:617913 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia |
OMIM:618156 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia |
ORPHA:363686 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait... |
OMIM:614863 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Ataxia, Abnormality of neutrophils, Anorexia, Abnormal retinal v... |
ORPHA:33226 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Tremor, Irritability, Primary... |
OMIM:615574 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... |
OMIM:231550 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Dystonia, Ataxia, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Pr... |
OMIM:607625 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Peripheral demyelination, Retinal degeneration |
OMIM:272200 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Diffuse hepatic st... |
ORPHA:436271 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... |
OMIM:253800 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Microcephaly, Elevated circulating alpha-fetoprotein concentra... |
OMIM:251880 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Hepatomegaly, Nodular regenerative hyperplasia of liv... |
ORPHA:404454 |
Aniridia 2 |
|
Aniridia, Optic atrophy, Iris coloboma |
OMIM:617141 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Megaloblastic anemia, Microc... |
ORPHA:79282 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Phace Association |
|
Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome |
OMIM:606519 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
ORPHA:158048 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Microcephaly, Retinal hemorrhage, Po... |
OMIM:609049 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
D-Glyceric Aciduria |
|
Cerebral cortical atrophy, Optic nerve hypoplasia |
OMIM:220120 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
White-Sutton Syndrome |
|
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia, Cerebral atr... |
OMIM:616364 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:3157 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Optic atrophy, Optic neuropathy, Depression |
OMIM:604928 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Ataxia, Microcephaly, Conjugated hyperbilirubinemia, Splenomegaly... |
OMIM:608885 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... |
OMIM:613843 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymp... |
OMIM:616084 |
Norrie Disease |
|
Retinal detachment, Aggressive behavior, Optic atrophy, Retinal dysplasia, Retinal fold |
OMIM:310600 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:617914 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Microcephaly, Elevated circ... |
ORPHA:480864 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Conj... |
ORPHA:53035 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Low plasma citrulline, Optic atrophy, Increased hepatic echogenicity, Hepatic steat... |
OMIM:261680 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Optic nerve hypoplasia |
OMIM:222765 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune t... |
ORPHA:77293 |
Chromosome Xp11.3 Deletion Syndrome |
|
Microcephaly, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal b... |
OMIM:300578 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Elevated circulating creatine kinase concentration, Normochromic anemia, Cholelithia... |
OMIM:618775 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hypoalbuminemia, Limb dys... |
OMIM:277900 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microcephaly |
OMIM:257910 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Dystonia, Ataxia, Head titubation, Optic atrophy, Dysmetria, Dysphagia, Lymphopenia, Intention tr... |
OMIM:619708 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Optic atrophy, Pigmentary retinopathy, Truncal ataxia, Increased hepatocell... |
OMIM:220110 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Global brain atrophy |
OMIM:301056 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia |
OMIM:300749 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Microcephaly, Splenomegaly, Impaired ADP-induced pl... |
OMIM:608233 |
19P13.13 Microdeletion Syndrome |
|
Corpus callosum atrophy, Optic atrophy, Optic nerve hypoplasia |
ORPHA:357001 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L... |
OMIM:260920 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Macular atrophy, Microcephaly, Splenomegaly... |
OMIM:619418 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia, Cerebral atrophy |
OMIM:612513 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia |
OMIM:609053 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Optic disc pallor, Hepatomegaly, Ataxia, Optic neuropathy, Microcephaly... |
ORPHA:2609 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Dystonia, Ataxia, Segmental peripheral demyelination/remyelination, Low plasma citr... |
ORPHA:255210 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Microcephaly, Optic atrophy, Dystonia, Impaired oropharyngeal swall... |
ORPHA:521426 |
Dpagt1-Cdg |
|
Hepatomegaly, Ataxia, Akinesia, Aggressive behavior, Microcephaly, Inability to walk, Tremor, Opt... |
ORPHA:86309 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cessation of head growth, Optic atrophy, Dysphagia, Progressive mic... |
OMIM:617527 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia |
OMIM:612301 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Anemia, Exudative retinopathy, Bone marrow... |
OMIM:612199 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Ataxia, Pseudobulbar paralysis, Abnormal circulating cholesterol concentration... |
OMIM:213700 |
Joubert Syndrome 21 |
|
Ataxia, Splenomegaly, Optic atrophy, Megalopapilla, Dysphagia, Retinopathy |
OMIM:615636 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu... |
OMIM:610505 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy, Ataxia, Depression |
OMIM:604121 |
Sturge-Weber Syndrome |
|
Retinal detachment, Abnormal retinal vascular morphology, Optic atrophy, Abnormal choroid morphol... |
ORPHA:3205 |
Aniridia 1 |
|
Hypoplasia of the fovea, Optic nerve hypoplasia, Chorioretinal hypopigmentation, Macular agenesis... |
OMIM:106210 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Abnormal optic disc morphology |
OMIM:617516 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
2P15P16.1 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Optic atrophy, Facial palsy |
ORPHA:261349 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Optic atrophy, Depression, Head tremor |
ORPHA:314404 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Optic atrophy, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy |
OMIM:601539 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia |
OMIM:236670 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emoti... |
ORPHA:428 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Hepatomegaly, Impulsivity, Aggre... |
ORPHA:580 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Resting tremor, Dystonia, Ataxia, Abnormal auditory evoked potentials, Aggress... |
ORPHA:909 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Microcephaly |
ORPHA:2714 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Fetal ascites, Tremor, Abnormality of the liver, Progressive gait ataxia,... |
ORPHA:646 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia |
OMIM:239200 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Abnormal optic disc morphology, Microcephaly, Microcytic a... |
ORPHA:293967 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Tremor... |
ORPHA:355 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology |
ORPHA:300570 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Exaggerated startle response, Ataxia, Microcephaly, Dystonia |
ORPHA:438216 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
Fg Syndrome Type 1 |
|
Optic nerve hypoplasia |
ORPHA:93932 |
Xeroderma Pigmentosum, Complementation Group B |
|
Ataxia, Microcephaly, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr... |
ORPHA:2785 |
Cockayne Syndrome |
|
Progressive gait ataxia, Retinal arteriolar constriction, Retinal degeneration, Intention tremor,... |
ORPHA:191 |
Cockayne Syndrome A |
|
Hepatomegaly, Retinal atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked ... |
OMIM:216400 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:261250 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Hepatomegaly... |
ORPHA:90324 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Microcephaly |
OMIM:618201 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Anorexia, Splenomegaly, Optic atrophy, Leukope... |
ORPHA:1328 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase co... |
OMIM:613154 |
Leptospirosis |
|
Papilledema, Hepatomegaly, Anorexia, Jaundice, Retinal hemorrhage, Hepatitis, Lymphadenopathy, Ch... |
ORPHA:509 |
Arima Syndrome |
|
Hepatomegaly, Retinal dystrophy, Ataxia, Optic atrophy, Hepatic fibrosis, Chorioretinal coloboma,... |
OMIM:243910 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Hyperu... |
OMIM:232220 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia, ... |
OMIM:127000 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Broad-based gait, Optic atrophy, Microcephaly |
OMIM:609037 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, M... |
ORPHA:649 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Stromme Syndrome |
|
Retinal vascular tortuosity, Optic nerve hypoplasia |
OMIM:243605 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Broad-based gait, Abnormality of the spleen, Thrombocytopenia, Splenom... |
ORPHA:2072 |
Wolfram Syndrome |
|
Ataxia, Abnormal mesentery morphology, Optic atrophy, Abnormal autonomic nervous system physiolog... |
ORPHA:3463 |
Fuchs Heterochromic Iridocyclitis |
|
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... |
ORPHA:263479 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia |
OMIM:620029 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Elevated circulating C-reactive prot... |
ORPHA:50918 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... |
ORPHA:892 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Cerebral atrophy, Attenuation of r... |
ORPHA:468631 |
Hydranencephaly |
|
Cerebral cortical atrophy, Chorioretinal atrophy, Optic nerve hypoplasia |
ORPHA:2177 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb... |
ORPHA:567983 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Optic nerve hypoplasia |
ORPHA:221139 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Microcephaly, Coloboma, Abnormal optic disc morphology, Ret... |
ORPHA:508498 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia, Cerebellar cortical atrophy |
OMIM:619321 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... |
ORPHA:96121 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... |
OMIM:259900 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Congenital Fibrosis Of Extraocular Muscles |
|
Optic nerve hypoplasia |
ORPHA:45358 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dystrophy, Pancreatitis |
OMIM:619471 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Optic nerve hypoplasia |
OMIM:617506 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Anorexia, Splenomegaly... |
OMIM:181000 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:206900 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Anemia, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic ... |
ORPHA:93325 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Broad-based gait, Exaggerated startle response, Dystonia, Decreased serum iron... |
ORPHA:438213 |
Pancreatic And Cerebellar Agenesis |
|
Optic nerve hypoplasia |
OMIM:609069 |
African Trypanosomiasis |
|
Papilledema, Hepatomegaly, Akinesia, Aggressive behavior, Tremor, Splenomegaly, Jaundice, Hepatos... |
ORPHA:3385 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Cerebral atrophy |
OMIM:602535 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Optic disc coloboma, Optic nerve hypoplasia |
ORPHA:536471 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
OMIM:301043 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
Cerebrooculonasal Syndrome |
|
Optic nerve hypoplasia |
OMIM:605627 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal optic nerve morphology, Optic nerve hypoplasia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal optic nerve morphology, Optic nerve hypoplasia |
ORPHA:352665 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Microcephaly, Dysphagia |
OMIM:618367 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:457284 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy |
ORPHA:397715 |
Phace Syndrome |
|
Retinal vascular malformation, Optic nerve hypoplasia |
ORPHA:42775 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Microcephaly, Lens coloboma, At... |
OMIM:619539 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia |
ORPHA:226307 |
Proboscis Lateralis |
|
Optic disc coloboma, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:141099 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma, Microcephaly |
OMIM:300166 |
Pineoblastoma |
|
Papilledema, Retinoblastoma, Lethargy |
ORPHA:251909 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Optic nerve hypoplasia |
OMIM:620025 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia |
OMIM:610829 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Microcephaly, Chorioretinal coloboma, Cyclopia, Iris col... |
OMIM:157170 |
8Q24.3 Microdeletion Syndrome |
|
Retinal coloboma, Optic nerve hypoplasia, Global brain atrophy |
ORPHA:508488 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:495875 |
Baller-Gerold Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:218600 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Global brain atrophy |
ORPHA:500150 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:95494 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Optic nerve hypoplasia |
OMIM:620330 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Microcephaly, Attention deficit hyperactivity disorder, Dysphagia, ... |
OMIM:619522 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
|
OMIM:615942 |