Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C... |
ORPHA:401820 |
Retinitis Pigmentosa 42 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... |
OMIM:612943 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Dysesthesia, Abnormal cerebellum morphology, Abnormal pyramidal tract morphology, Gait ataxia, Ab... |
ORPHA:356 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Familial Congenital Mirror Movements |
|
Cerebral palsy, Clumsiness, Poor fine motor coordination, Abnormal corticospinal tract morphology... |
ORPHA:238722 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... |
OMIM:615771 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Adult Krabbe Disease |
|
Hoffmann sign, Abnormal medulla oblongata morphology, Ataxia, Abnormal pyramidal tract morphology... |
ORPHA:206448 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr... |
ORPHA:401830 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Spastic Paraplegia 2, X-Linked |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Abnormal cerebellum morp... |
OMIM:312920 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal brainstem MRI signal intensity, Tremor, Abnormal pyramidal tract morphology, Babinski si... |
ORPHA:83629 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... |
ORPHA:171622 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... |
OMIM:604213 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co... |
ORPHA:171703 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ataxia, Agyria, Microcephaly, Spastic tetraplegia, Hypoplasia of th... |
OMIM:611603 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Lissencephaly 4 |
|
Babinski sign, Simplified gyral pattern, Colpocephaly, Hypertonia, Lissencephaly, Cerebellar hypo... |
OMIM:614019 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Gait ataxi... |
ORPHA:453521 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Microcephaly, Inability to walk, Simplified gyral pattern, Cerebral atr... |
OMIM:618492 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis, Enlarged tonsils |
ORPHA:168621 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess |
OMIM:604416 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal t... |
OMIM:307000 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Masa Syndrome |
|
Hemiplegia/hemiparesis, Spastic paraplegia, Agenesis of corpus callosum, Gait disturbance |
ORPHA:2466 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum, Ataxia |
ORPHA:85334 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ... |
OMIM:182600 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic diplegia, Pe... |
ORPHA:255182 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:100989 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal ... |
OMIM:604360 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Oro... |
ORPHA:300573 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Hypertonia, Cerebellar... |
OMIM:617090 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Spastic tetraplegia, Simplified gyral pat... |
OMIM:619302 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... |
ORPHA:94122 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Cerebellar atrophy, Waddling gait, Lower limb spasticity, Spastic ataxia, Degeneration of the lat... |
OMIM:607259 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Mid... |
OMIM:617542 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... |
OMIM:608716 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Tempi Syndrome |
|
Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Microcephaly, Impaired distal vibrati... |
OMIM:619742 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ... |
OMIM:603563 |
Developmental And Epileptic Encephalopathy 88 |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypertonia, Inferior cerebellar ... |
OMIM:618959 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of the brainste... |
OMIM:619301 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Progressive spastic para... |
ORPHA:444099 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of ... |
ORPHA:255138 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Polymicrogyria, Microcephaly, Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract |
OMIM:619602 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Gait ataxia, Myoclonus, Action myoclonus, Frequent falls, Agenesis of c... |
OMIM:616540 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:100999 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:171612 |
Masa Syndrome |
|
Lower limb spasticity, Microcephaly, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gai... |
OMIM:303350 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... |
OMIM:105400 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Cerebellar atrophy, Appendicular spasticity, Inability to walk, Periventricular leukomalacia, Age... |
OMIM:618324 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:171863 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina... |
OMIM:618276 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Frequent falls, Agenesis of corpus callosum |
OMIM:618197 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po... |
ORPHA:250972 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Corticospinal tract atrophy, Ataxia |
OMIM:551500 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Polycythemia, Cirrhosis |
OMIM:613280 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Agenesis o... |
OMIM:620200 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Lissencephaly, Hypoplasia o... |
OMIM:619466 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst... |
OMIM:620317 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity, Cerebellar hypo... |
OMIM:304100 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Poor coordinat... |
OMIM:617695 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor |
OMIM:619389 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene... |
OMIM:618286 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... |
OMIM:220200 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Glycine Encephalopathy 1 |
|
Death in infancy, Hyperactivity, Restlessness, Impulsivity, Aggressive behavior, Agenesis of corp... |
OMIM:605899 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... |
ORPHA:423275 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph... |
ORPHA:171680 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... |
OMIM:613153 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Agenesis of corpus callosum |
ORPHA:459074 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella... |
OMIM:218670 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ... |
OMIM:182601 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... |
ORPHA:1528 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Spasticity, Polymicrog... |
OMIM:600348 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Hypoplasia ... |
OMIM:613162 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral... |
ORPHA:166024 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:616570 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro... |
OMIM:615095 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... |
OMIM:226300 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosenc... |
ORPHA:2182 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Spastic gait, Progressive spastic paraplegia, Degeneration of the lateral ... |
ORPHA:320355 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
Poems Syndrome |
|
Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Ascites, Polycythemia, Vis... |
ORPHA:2905 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Spastic tetraplegia, Primary microcephaly, Spasticity, Agenesis of corp... |
OMIM:616681 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibo... |
OMIM:613101 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Thi... |
OMIM:613647 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Narp Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Ataxia, Babinski sign, Progressive gait ataxia, Cort... |
ORPHA:644 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis |
ORPHA:33574 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:85179 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:100993 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphadenopathy, Leukopenia... |
OMIM:615934 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Livedoid Vasculopathy |
|
Leukocytosis, Pancytopenia, Polycythemia, Anemia |
ORPHA:542643 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Cerebral atrophy, Tetraplegia, Hypertonia, Agenesis of corpus callosum |
OMIM:274270 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... |
ORPHA:309854 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly, Dysphagia |
OMIM:619025 |
Microhydranencephaly |
|
Microcephaly, Spastic tetraplegia, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia,... |
OMIM:605013 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Unsteady gait, Poor gross motor co... |
OMIM:245349 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum... |
OMIM:616171 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Spasticity, Agenesis of corpus callosum |
OMIM:619548 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... |
OMIM:616127 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... |
OMIM:612840 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ... |
ORPHA:171617 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Chiari malform... |
OMIM:207950 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Parkinsonism, Spastic tetraparesis, Inability to walk, Partial agenesis of the corpus callosum, O... |
OMIM:619653 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypertonia, Nonprogressive cerebellar ataxia, Primary... |
ORPHA:466688 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma... |
OMIM:226990 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal degeneration, Central heterochromia |
OMIM:275400 |
Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Peripheral axonal neuropathy |
OMIM:619090 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly |
OMIM:269840 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... |
OMIM:620282 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... |
OMIM:150550 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Oculomotor apraxia, Hydrocephalus, Molar tooth sign on MRI, Agenesi... |
OMIM:619111 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal py... |
OMIM:614833 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... |
ORPHA:98 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Death in infancy, Microcephaly, Death in childhood, Parietal cortical atrophy, Frontal cortical a... |
OMIM:618766 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia... |
OMIM:616819 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Foxg1 Syndrome |
|
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walking, Hypopl... |
ORPHA:561854 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts |
OMIM:193300 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... |
ORPHA:33355 |
Delpire-Mcneill Syndrome |
|
Spasticity, Hypertonia, Agenesis of corpus callosum, Cortical dysplasia |
OMIM:619083 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:617127 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ... |
OMIM:615688 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Clonus, ... |
ORPHA:370959 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Microcephaly, Tetraplegia, Spasticity, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:2508 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Microcephaly, Inability to walk, Cerebellar gliosis, Partial agenesis of the corpus callo... |
ORPHA:79243 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Microcephaly, Neuronal loss in the cere... |
ORPHA:168486 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Spastic tetraplegia, Choreoathetosis, Spasticity, Agenesis of corpus callosum |
OMIM:618238 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels |
OMIM:204000 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Agenesis of corpus callosum |
OMIM:250620 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral patte... |
OMIM:616212 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of... |
OMIM:616342 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydran... |
OMIM:225790 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Microl... |
ORPHA:89844 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... |
OMIM:618736 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpu... |
OMIM:617977 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Microcephaly, Amish Type |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Myo... |
OMIM:607196 |
Familial Isolated Dilated Cardiomyopathy |
|
Abnormality of neutrophils |
ORPHA:154 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Spastic diplegia, Cerebra... |
OMIM:600118 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Ascites, Polycythemia |
OMIM:606812 |
3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1621 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Abnormal dentate nucleus morphology, Microcephaly, Partial agenesis of the corpus c... |
OMIM:619517 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th... |
ORPHA:229717 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... |
OMIM:300635 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... |
ORPHA:324636 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Cholestasis, Hepatic fibrosis, Cirrhosis, Thrombocytosis, Hepatic steatosis, Anemia |
OMIM:615486 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... |
OMIM:618495 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis |
ORPHA:90064 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... |
ORPHA:848 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Hepatomegaly |
ORPHA:79238 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... |
ORPHA:98759 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Hepatomegaly |
ORPHA:134 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1466 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal cord paralysis, Hypoplasia... |
ORPHA:500144 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Leuk... |
ORPHA:20 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia |
ORPHA:108 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Dysgenesis of the basal ganglia, Babinski sign, Lissencephaly, Cerebellar hypoplasia, Pachygyria,... |
OMIM:620316 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:614480 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia |
OMIM:616490 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Abnormal corpus striatum morphology, Respiratory insufficiency |
ORPHA:238329 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto... |
ORPHA:3260 |
Perching Syndrome |
|
Respiratory distress, Dysphagia |
OMIM:617055 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hydroceph... |
OMIM:253800 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Tremor, Cerebral atrophy, Choreoathetosis, Basal ganglia cysts, Myoclonus, Episodic... |
OMIM:312170 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:230350 |
Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly |
OMIM:614226 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... |
ORPHA:101030 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia |
OMIM:246000 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly |
ORPHA:2512 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ... |
ORPHA:50251 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:86893 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ... |
ORPHA:84064 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, D... |
OMIM:615122 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydrocephalus, G... |
ORPHA:220497 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level |
OMIM:212750 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Ataxia, Oculomotor apraxia, Cerebellar hypoplasia, Molar tooth sign on MRI |
OMIM:617562 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebell... |
OMIM:617669 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Dysphagia, Cough |
ORPHA:77260 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... |
OMIM:620210 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
OMIM:620010 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... |
OMIM:222470 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom... |
ORPHA:1304 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... |
OMIM:616050 |
Fg Syndrome 3 |
|
Chiari type I malformation, Death in infancy, Hyperactivity, Agenesis of corpus callosum |
OMIM:300406 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... |
ORPHA:381 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Anorexia, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Babinski si... |
ORPHA:2524 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cerebral white matter atro... |
OMIM:615042 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ... |
ORPHA:2968 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Microcephaly |
ORPHA:1832 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp... |
OMIM:614815 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ... |
ORPHA:300570 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walk... |
OMIM:164180 |
Tularemia |
|
Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphol... |
ORPHA:3392 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus |
ORPHA:2801 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... |
ORPHA:897 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Classic Mycosis Fungoides |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly |
ORPHA:2584 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... |
OMIM:614399 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Leukoencephalopathy, Loss of ... |
OMIM:611390 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Polycythemia, Pancreatic islet cell adenoma, Pancreatic cysts |
ORPHA:892 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly... |
OMIM:615249 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Microcephaly, Atrophy of the spinal cord, Partial agenesis of the corpus callosum, Neuronal loss ... |
ORPHA:86822 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Spasticity, Agenesis of corpus callosum, Microcephaly |
OMIM:615286 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... |
OMIM:602450 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:609033 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Cerebellar hypoplasia |
OMIM:615228 |
Hogue-Janssen Syndrome 2 |
|
Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, A... |
OMIM:616362 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... |
OMIM:616602 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Coproporphyria, Hereditary |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:121300 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... |
ORPHA:397596 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
Leukoencephalopathy With Ataxia |
|
Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy |
OMIM:615651 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis... |
ORPHA:1451 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
OMIM:604804 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Chiari type I malfo... |
OMIM:618476 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydrocephalus, G... |
ORPHA:220493 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Neuroendocrine Neoplasm Of Appendix |
|
Mechanical ileus, Functional intestinal obstruction, Midgut malrotation, Ovarian neoplasm, Protra... |
ORPHA:100079 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Agenesis of corpus callosum |
OMIM:610498 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... |
ORPHA:158061 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Decreased circulating IgG level, Hepatic steatosi... |
OMIM:212065 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Inability to walk, Hypoplasia of the brainstem, Progressive microcephaly, Difficulty walk... |
ORPHA:481152 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... |
ORPHA:39041 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... |
OMIM:616005 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:300934 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hepatomegaly |
OMIM:608540 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum |
OMIM:615314 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... |
ORPHA:398124 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia |
ORPHA:290 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:269920 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... |
OMIM:240500 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Polycythe... |
ORPHA:116 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly |
OMIM:616719 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Microcephaly, Respiratory distress, Death in childhood |
OMIM:615597 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:44 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly |
OMIM:609981 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Abnormal globus pallidus morphology, Agenesis of corpus callosum, Hypoplasia of the corpus callos... |
OMIM:618603 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Craniofacial Dyssynostosis With Short Stature |
|
Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus ... |
OMIM:218350 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Partial agenesis of the corpus callosum, Hypertonia, Spasticity, Microcephaly |
OMIM:618346 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:42642 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:607131 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Ogden Syndrome |
|
Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Iron deficiency anemia, Macrovesicular ... |
OMIM:300855 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab... |
ORPHA:47612 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618577 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... |
ORPHA:424016 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum |
ORPHA:2101 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Septooptic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:182230 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Imagawa-Matsumoto Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum |
OMIM:618786 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Polymicrogyria |
OMIM:616974 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Farber Lipogranulomatosis |
|
Splenomegaly, Lipogranulomatosis, Hepatomegaly |
OMIM:228000 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia |
OMIM:606764 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly |
OMIM:602271 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly |
ORPHA:75234 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... |
ORPHA:3162 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c... |
OMIM:618986 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:94093 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Hepatic stea... |
ORPHA:905 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
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 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callo... |
ORPHA:99742 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, ... |
OMIM:300887 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Agenesis of corpus callosum, Respiratory... |
ORPHA:990 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin... |
ORPHA:77259 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Reduced cerebral white matter volume, Opi... |
OMIM:620352 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal flecks, Yellow/white lesions of the... |
ORPHA:100996 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Alobar holoprosencephaly |
OMIM:615433 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Death in infancy, Respiratory distress, Neuronal loss in basal ganglia, Cereb... |
OMIM:604377 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Recurren... |
OMIM:214150 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tremor, Inability to walk, Diffuse white matter abnormalities, Limb tremor, Agenesis of corpus ca... |
OMIM:218000 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Cirrhosis, Hepatomegaly |
OMIM:602390 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:256550 |
Lissencephaly, X-Linked, 2 |
|
Spasticity, Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:300215 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Hepatomegaly |
OMIM:615637 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... |
ORPHA:5 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Aggressive behavior |
OMIM:237310 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia, Clumsiness |
OMIM:619320 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep... |
OMIM:606003 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho... |
OMIM:617591 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Facial palsy |
ORPHA:370968 |
Birk-Landau-Perez Syndrome |
|
Microcephaly, Limb ataxia, Choreoathetosis, Difficulty walking, Oculomotor apraxia, Pachygyria, A... |
OMIM:617595 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Abnormal anterior horn cell morphology, Respiratory insufficiency, Degenera... |
ORPHA:1145 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Microcephaly |
ORPHA:26792 |
Prolidase Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun... |
OMIM:170100 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the corpus callosum, Spasticity, Agenesis of corp... |
OMIM:616239 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:614583 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619989 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, Jaundice, Lymphadenopathy, Anem... |
ORPHA:540 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:619183 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Roifman Syndrome |
|
Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:616651 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
4Q21 Microdeletion Syndrome |
|
Tremor, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:238750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Hydrocep... |
OMIM:613150 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia |
OMIM:600376 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:391 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia |
OMIM:613561 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Cough |
ORPHA:99825 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Spastic paraplegia, Cerebral atrophy, Lower limb hyperto... |
OMIM:617296 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Chorea, Athetosis, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker malfo... |
OMIM:619435 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Frontotemporal cerebral atrophy, Apnea, Respiratory distress |
ORPHA:79097 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Ring Chromosome 22 Syndrome |
|
Absent septum pellucidum, Impaired pain sensation, Microcephaly, Gait ataxia, Agenesis of corpus ... |
ORPHA:1446 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Encephalomalacia, Focal T2 hyperintense basal ganglia lesion, Agenesis o... |
ORPHA:506 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal cerebellum mor... |
OMIM:211530 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Progressive microcephaly |
OMIM:614741 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Stridor, Cough |
ORPHA:142 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Jaundice, Hepatos... |
OMIM:603553 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Stt3B-Cdg |
|
Cerebellar atrophy, Respiratory distress, Microcephaly |
ORPHA:370924 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... |
OMIM:616258 |
Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy |
OMIM:535000 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... |
OMIM:267700 |
Maternal Uniparental Disomy Of Chromosome X |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261519 |
Cln3 Disease |
|
Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy |
ORPHA:228346 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Sialidosis Type 2 |
|
Splenomegaly, Ascites, Hepatomegaly |
ORPHA:87876 |
Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:256000 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... |
OMIM:617099 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615986 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Majeed Syndrome |
|
Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a... |
ORPHA:77297 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Anterior basal enceph... |
OMIM:136760 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly, Tracheomalacia |
OMIM:202650 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial a... |
OMIM:614643 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:2930 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Spasticity, Pachygyria, Agenesis of corpus callosum, Microcephaly |
ORPHA:452 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
6Q25 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:251056 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia |
OMIM:619074 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Ascites, Eosinophilia, Anemia |
ORPHA:2070 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... |
ORPHA:2715 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:521308 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Partial agenesis of the corpus callosum, Unsteady gait, Hypoplasia of the corpus callosum, Gait a... |
OMIM:618109 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Muckle-Wells Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:575 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Chiari type I malformation, Syringomyelia, Agenesis of corpus callosum, Hypoplasia of the corpus ... |
OMIM:613735 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... |
ORPHA:1493 |
Smith-Magenis Syndrome |
|
Microcephaly, Impaired pain sensation, Aplasia/Hypoplasia of the corpus callosum, Gait disturbanc... |
ORPHA:819 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:259700 |
Muckle-Wells Syndrome |
|
Leukocytosis |
OMIM:191900 |
Walker-Warburg Syndrome |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Polymicrogyria... |
ORPHA:899 |
Alexander Disease |
|
Cerebral calcification, Ataxia, Clonus, Megalencephaly, Aqueductal stenosis, Tremor, Chorea, Hydr... |
ORPHA:58 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis |
OMIM:120100 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly |
OMIM:618142 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Respiratory distress, Microcephaly, Corpus callosum atrophy, Cerebral atrophy... |
OMIM:619272 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Babinski sign, Cerebral atrophy, Hypertonia, Hypoplas... |
OMIM:615802 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Cortical dysplasia, Abnormal pyramidal sign, Simplified gyral pattern, Hy... |
ORPHA:468631 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se... |
ORPHA:88628 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leukocytosis, ... |
OMIM:610377 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow response, ... |
ORPHA:2004 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C... |
OMIM:618278 |
Adrenomyeloneuropathy |
|
Cerebral dysmyelination, Atrophy/Degeneration involving the corticospinal tracts, Dysesthesia, Pr... |
ORPHA:139399 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... |
OMIM:611881 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold |
OMIM:108145 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Aggressive behavior, Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Leukoenceph... |
OMIM:619244 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia |
OMIM:187300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men... |
OMIM:236670 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:175700 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Splenomegaly, Cirrhosis, Hepatomegaly |
OMIM:613489 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Choking episodes, Tracheomalacia, Chronic sinusit... |
ORPHA:137914 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the c... |
OMIM:613001 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Acanthocytosis |
OMIM:300842 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Restlessness, Respiratory distress, Microcephaly, Hypoplasia of the corpus ca... |
ORPHA:544503 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cel... |
OMIM:608233 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:93267 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Abnormal cerebral white matter morphology, Respiratory f... |
ORPHA:330021 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Microcephaly, Cough |
ORPHA:86812 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... |
OMIM:260920 |
Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele |
ORPHA:66637 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati... |
ORPHA:1572 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop... |
OMIM:616051 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Ascites, Hepatomegaly |
ORPHA:2414 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoencephalopathy, Bradykinesi... |
OMIM:614924 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leuk... |
ORPHA:292 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... |
ORPHA:464329 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice |
ORPHA:676 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy, Facial palsy |
OMIM:613156 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... |
OMIM:300972 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Chiari type I malformation, Thin corpus callosum, Spa... |
OMIM:619720 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Halperin-Birk Syndrome |
|
Inability to walk, Spastic tetraplegia, Pseudobulbar paralysis, Hypertonia, Colpocephaly, Agenesi... |
OMIM:618651 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Ascites, Hepatomegaly |
ORPHA:834 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hyperactivity, Abnormal eating behavior, Mic... |
ORPHA:209905 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Hemiplegia/hemiparesis, ... |
ORPHA:3157 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum, Gait disturbance |
ORPHA:1812 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Appendicular spasticity, Partial agenesis of the corpus callosum, Apraxia, Oculomotor apraxia, Ag... |
OMIM:620250 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:235555 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Obsessive-compulsive trait, Cerebral atrophy, Dysphagia |
OMIM:160900 |
Temtamy Syndrome |
|
Hypertonia, Agenesis of corpus callosum, Thick corpus callosum |
OMIM:218340 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Agenesis of corpus callosum, Spastic tetraplegia, Tetraplegia, Microcephaly |
OMIM:300004 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:85414 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the... |
ORPHA:314679 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Hepatic fi... |
OMIM:615895 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Wolfram Syndrome 1 |
|
Pigmentary retinopathy, Neurogenic bladder, Optic atrophy |
OMIM:222300 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Secondary microcephaly, Hypoplasia of ... |
OMIM:620073 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:109120 |
1Q41Q42 Microdeletion Syndrome |
|
Hyposegmentation of neutrophil nuclei |
ORPHA:250999 |
Renal Coloboma Syndrome |
|
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia |
ORPHA:1475 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... |
OMIM:614576 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Chiari malformation... |
OMIM:609053 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Leukocytosis, Lymphadenopathy, Acute leukemia |
ORPHA:99812 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:90060 |
Braddock-Carey Syndrome 1 |
|
Agenesis of corpus callosum, Spastic diplegia, Microcephaly |
OMIM:619980 |
Immunodeficiency 49 |
|
Eosinophilia, Agenesis of corpus callosum, Spastic tetraplegia, Reduced cerebral white matter volume |
OMIM:617237 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
Marden-Walker Syndrome |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo... |
OMIM:248700 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis |
OMIM:608885 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Lower limb spasticity, Abnormal midbrain morphology, Microcephaly, Hypoplasia of o... |
ORPHA:314621 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Macrovesicular h... |
OMIM:617303 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Respiratory distress, Abnormal substantia nig... |
ORPHA:79139 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... |
OMIM:615994 |
High Altitude Pulmonary Edema |
|
Leukocytosis |
ORPHA:330012 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ... |
OMIM:274150 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei |
OMIM:620075 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Abscess, Hepatomegaly |
OMIM:612852 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... |
OMIM:251880 |
Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
ORPHA:139471 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:252920 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke... |
ORPHA:33226 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Jaundice, Thrombocytopenia, Hepatomegaly |
OMIM:251290 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Decreased circulating antibody level, Lymphopenia, Hepatomegaly |
OMIM:605309 |
Chromosome 5P13 Duplication Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corpus callosum, Compulsive ... |
OMIM:613174 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
Radio-Tartaglia Syndrome |
|
Ataxia, Microcephaly, Tremor, Gait imbalance, Agenesis of corpus callosum |
OMIM:619312 |
Hydrolethalus |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2189 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Agitation, Abnormal repetitive mannerisms, Microcephaly |
ORPHA:927 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Megalencephaly, Hydrocephalus, Respiratory failure, Hypoplas... |
OMIM:616482 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:230900 |
Emanuel Syndrome |
|
Microcephaly, Hydrocephalus, Dysphagia, Cerebral atrophy, Abnormal cerebral white matter morpholo... |
ORPHA:96170 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Pontocerebellar atrophy, Secondary microcephaly |
OMIM:608799 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Microcephaly, Pica, Small cerebral cortex, Hypoplasia of the corpus callosum, Spina bifida occult... |
OMIM:617360 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia |
ORPHA:2902 |
Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Cerebral cortical atrophy, Microcephaly |
OMIM:618201 |
Isolated Exencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:563612 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Respiratory distress, Neonatal respiratory distress, Death in infancy, Apnea,... |
OMIM:618426 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Upper airway obstruction, Hypoplasia of the olfactory bulb, Retrocere... |
ORPHA:1827 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Pigmentary retinopathy, Freckling, Optic atrophy |
OMIM:610651 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Anorexia, Cerebellar gliosis, Tachypnea, Hyperintensity of cerebra... |
ORPHA:3008 |
Desmosterolosis |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Rigidity, Hydrocephalus, Macr... |
ORPHA:35107 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Ascites |
OMIM:235200 |
Typhoid |
|
Splenomegaly, Hepatomegaly |
ORPHA:99745 |
Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Neutropenia, Ascites, Thrombocytopenia |
ORPHA:391673 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly |
OMIM:618541 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the... |
OMIM:619512 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
Intellectual Disability-Strabismus Syndrome |
|
Microcephaly, Gait disturbance, Hypoplasia of the corpus callosum, Spasticity, Agenesis of corpus... |
ORPHA:363528 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Attention ... |
OMIM:619383 |
Moebius Syndrome |
|
Respiratory distress, Hypoplasia of the brainstem, Dysphagia |
OMIM:157900 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Microcephaly |
ORPHA:261304 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618619 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Cerebral cortical atrophy, Respiratory distress, Microcephaly |
ORPHA:254913 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Tangier Disease |
|
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:205400 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis |
OMIM:618641 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Microcephaly, Cerebellar hypoplasia, Tracheo... |
OMIM:217980 |
Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:239200 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of co... |
OMIM:612863 |
Curry-Jones Syndrome |
|
Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Chiari type I malformation, Occipital m... |
OMIM:601707 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Hepatic fibrosis, Cholestasis, Hepatomegaly |
OMIM:615630 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... |
OMIM:612301 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... |
ORPHA:51636 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalu... |
ORPHA:157 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Throm... |
ORPHA:525731 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Anorexia |
ORPHA:79242 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... |
OMIM:301056 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... |
OMIM:216550 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... |
ORPHA:809 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma |
ORPHA:2510 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Baraitser-Winter Syndrome 1 |
|
Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly |
OMIM:243310 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly |
OMIM:252900 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Legionnaires Disease |
|
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... |
ORPHA:549 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly |
OMIM:612387 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Micr... |
OMIM:619895 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver |
ORPHA:91138 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Intracerebral periventricular calcifications, Ap... |
OMIM:608836 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Ce... |
OMIM:243605 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Dysphagia |
OMIM:620166 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Spast... |
OMIM:616449 |
Trisomy 1Q |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:261344 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Leukocytosis |
ORPHA:51890 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Cerebral white matter atrophy, Cerebellar hypoplasia, Abnormal periventricu... |
ORPHA:329178 |
Nizon-Isidor Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Attention deficit hyperactivity d... |
OMIM:618872 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogy... |
OMIM:264480 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Respiratory distress |
ORPHA:37612 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy |
OMIM:616028 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms, Agenesis of corpus callosum, Microcephaly |
ORPHA:261144 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysphagia, Polymicrogyria,... |
OMIM:619775 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Prolonged neonatal jaundice, Thrombocytopenia, Hepatomegaly |
OMIM:225750 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly |
ORPHA:33577 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Agenesis of corpus callosum |
OMIM:147950 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Decrease... |
OMIM:613385 |
Gm1-Gangliosidosis, Type Ii |
|
Splenomegaly, Sea-blue histiocytosis, Hepatomegaly |
OMIM:230600 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Microcephaly, Agenesis of corpus callosum, Stereotypical hand wringing, Bruxism |
OMIM:612337 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi... |
ORPHA:264580 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
ORPHA:238769 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:773 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei |
OMIM:614800 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Neonatal death |
OMIM:300219 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Agenesis of corpus callosum, I... |
OMIM:618929 |
Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Neutropenia |
OMIM:604173 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Lymphadenopathy, Abnormality o... |
ORPHA:781 |
Kleefstra Syndrome |
|
Aggressive behavior, Microcephaly, Dyspnea, Agenesis of corpus callosum, Self-injurious behavior,... |
ORPHA:261494 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypodysplasia of the corpus callosum, Microcephaly, Hydrocephalus, Tetraplegia, Cerebral hypoplas... |
OMIM:257300 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebral calcification, Absent septum pellucidum, Paralysis, Rigidity, Tetraplegia, Cerebral atro... |
ORPHA:2396 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia |
OMIM:222700 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Optic nerve dysplasia |
OMIM:617319 |
Gm1-Gangliosidosis, Type I |
|
Splenomegaly, Vacuolated lymphocytes, Hepatomegaly |
OMIM:230500 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... |
OMIM:620113 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:3386 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling |
OMIM:614105 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang... |
ORPHA:2137 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Microcephaly, Inability to walk, Hypertonia, Hypoplasia of the corpus callosum, Spasticity, Pachy... |
OMIM:613457 |
Oromandibular Dystonia |
|
Respiratory distress, Dysphagia, Bruxism |
ORPHA:93958 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Ascites, Thrombocytopenia |
OMIM:608013 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Difficulty walki... |
ORPHA:464738 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress |
OMIM:616733 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Liver abscess, Lung abscess, Anemia |
ORPHA:67 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... |
OMIM:618733 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:612940 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Hepatic fibrosis, Cirrhosis, Hepatocellular c... |
ORPHA:79240 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia |
OMIM:214110 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
8P Inverted Duplication/Deletion Syndrome |
|
Spastic tetraplegia, Hypertonia, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker... |
ORPHA:96092 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:93474 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Cerebral calcification, Cerebellar vermis hypoplasia, Intracerebra... |
ORPHA:228308 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Ulcerative colitis, Neoplasm of the... |
ORPHA:171 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Lymphadenopath... |
ORPHA:50918 |
Coffin-Siris Syndrome 11 |
|
Agenesis of corpus callosum |
OMIM:618779 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells, Respiratory distress |
OMIM:271225 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... |
OMIM:619418 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Lissencephaly, Cerebellar hypoplasia, Secondary microcephaly |
ORPHA:50810 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy... |
ORPHA:77261 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Tetanus |
|
Respiratory distress, Tachypnea, Dysphagia |
ORPHA:3299 |
8P11.2 Deletion Syndrome |
|
Splenomegaly, Hemolytic anemia, Spherocytosis |
ORPHA:251066 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Whipple Disease |
|
Splenomegaly, Mediastinal lymphadenopathy, Anemia, Hepatomegaly |
ORPHA:3452 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Upper airway obstructio... |
OMIM:603671 |
Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
Curry-Jones Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1553 |
Opitz Gbbb Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysphagia, Aspiration, Agenesis of corpus callosum |
OMIM:300000 |
16P13.11 Microdeletion Syndrome |
|
Microcephaly, Self-injurious behavior, Holoprosencephaly, Compulsive behaviors, Agenesis of corpu... |
ORPHA:261236 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Megalencephaly, Hydrocephalus, Upper airway obstruction, ... |
OMIM:100800 |
Pudendal Neuralgia |
|
Neoplasm of the genitourinary tract, Constipation, Anal canal adenocarcinoma, Genital neoplasm |
ORPHA:60039 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly |
ORPHA:3035 |
Melas |
|
Abnormal central motor function, Ataxia, Aplasia/Hypoplasia of the cerebral white matter, Basal g... |
ORPHA:550 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Hyperactivity, Aggressive behavior, Microcephaly, Anencephaly, Agenesis of corpus ... |
OMIM:619148 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Pigmentary retinopathy, Neurogenic bladder, Rod-cone dystrophy, Optic atrophy |
ORPHA:96180 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Leukoencephalopathy, Resp... |
OMIM:220110 |
Bohring-Opitz Syndrome |
|
Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
OMIM:605039 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Microcephaly, Partial agenesis of the corpus callosum, Cerebral at... |
ORPHA:3338 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c... |
OMIM:222448 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia |
ORPHA:729 |
Urachal Cyst |
|
Leukocytosis, Peritonitis, Abdominal mass, Abscess |
ORPHA:488 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Dysphagia |
ORPHA:98805 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
Tetrasomy 5P |
|
Respiratory distress, Pericallosal lipoma, Hydrocephalus, Cerebellar hypoplasia, Pulmonary arteri... |
ORPHA:3309 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop... |
ORPHA:96147 |
Marshall-Smith Syndrome |
|
Apnea, Absent septum pellucidum, Optic nerve hypoplasia, Hydrocephalus, Cerebral atrophy, Macrogy... |
OMIM:602535 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia |
OMIM:263700 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepatocellular carcinoma, Pancreati... |
OMIM:232220 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa... |
ORPHA:90038 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:436271 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Shigellosis |
|
Abscess, Leukocytosis, Peritonitis, Cholestasis, Microangiopathic hemolytic anemia, Splenic absce... |
ORPHA:810 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Microcephaly, Tongue thrusting, Self-injurious behavior, Stereotypical body rockin... |
ORPHA:261323 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi... |
OMIM:620278 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th... |
OMIM:620305 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Agenesis of corpus callosum, Compulsive behaviors, Aggressive behavior |
OMIM:309520 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation |
OMIM:309900 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis |
ORPHA:764 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy |
ORPHA:79095 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Porencephalic cyst, Molar tooth sign on MRI, Occipital meningocele,... |
OMIM:277170 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia |
ORPHA:3301 |
Apert Syndrome |
|
Absent septum pellucidum, Hydrocephalus, Respiratory insufficiency, Chiari malformation, Agenesis... |
ORPHA:87 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Macrogyria, Athetosis, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agene... |
OMIM:614866 |
Trichothiodystrophy |
|
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Abnormal pyramida... |
ORPHA:33364 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... |
ORPHA:1969 |
Microform Holoprosencephaly |
|
Asthma, Agenesis of corpus callosum, Holoprosencephaly, Microcephaly |
ORPHA:280200 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Microce... |
ORPHA:2519 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function, Hepatomegaly |
OMIM:201100 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... |
ORPHA:157850 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
ORPHA:502423 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu... |
OMIM:618500 |
Cohen Syndrome |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O... |
ORPHA:193 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cardiorespiratory arrest, Respiratory insufficiency, Cerebellar hypoplasia, Pachygyria, Agenesis ... |
ORPHA:93317 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:192 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Microcephaly |
ORPHA:2707 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum |
OMIM:123790 |
Endocrine-Cerebroosteodysplasia |
|
Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla... |
OMIM:612651 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ... |
ORPHA:457284 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... |
ORPHA:37042 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:234050 |
Xp21 Deletion Syndrome |
|
Spasticity, Agenesis of corpus callosum |
ORPHA:261476 |
Desmosterolosis |
|
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c... |
OMIM:602398 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... |
ORPHA:1692 |
Cono-Spondylar Dysplasia |
|
Partial agenesis of the corpus callosum, Poor coordination |
ORPHA:420794 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal... |
ORPHA:1775 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Aqueductal stenosis, Hydrocephalus, Chiari malformation, Tracheomalacia |
ORPHA:93259 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy |
ORPHA:110 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Agenesis of corpus callosum |
ORPHA:52055 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock |
ORPHA:742 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Microcephaly, Respiratory insufficiency, Colpocephaly, Hypoplasia of the corpus callosum, Agenesi... |
OMIM:617260 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Pneumothorax, Respiratory distress, Cerebral atrophy |
OMIM:620306 |
Wolfram Syndrome 2 |
|
Neurogenic bladder, Optic atrophy, Optic neuropathy |
OMIM:604928 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... |
ORPHA:50 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, L... |
OMIM:610828 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:590 |
Adnp Syndrome |
|
Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Microcephaly, Cerebral atro... |
ORPHA:404448 |
15Q Overgrowth Syndrome |
|
Hydrocephalus, Syringomyelia, Pulmonary arterial hypertension, Agenesis of corpus callosum, Dandy... |
ORPHA:314585 |
Pachydermoperiostosis |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:2796 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly |
OMIM:615947 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Semilobar Holoprosencephaly |
|
Central apnea, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, As... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, As... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, As... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, As... |
ORPHA:93924 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pachygyria, Neonatal death |
OMIM:231680 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Abnormal neuron branching, Respiratory insufficiency |
ORPHA:367 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... |
ORPHA:567983 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Werner Syndrome |
|
Premature graying of hair, Abnormality of retinal pigmentation, White forelock |
ORPHA:902 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Macronodular cirr... |
ORPHA:699 |
Opitz Gbbb Syndrome |
|
Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Stridor, Hypoplasia of the corpus call... |
ORPHA:2745 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Respiratory distress, Microcephaly, Recurrent pneumonia, Cerebral atrophy |
OMIM:616271 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Hep... |
OMIM:602782 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Apnea, Microcephaly |
ORPHA:85201 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocellular carcinom... |
OMIM:276700 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoxemia, Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly |
ORPHA:556955 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Rectal abscess |
OMIM:116920 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Diarrhea, Leiomyosarcoma, Adrenocorti... |
ORPHA:139411 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:53715 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Hepatitis |
ORPHA:584 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy |
ORPHA:32960 |
Stevens-Johnson Syndrome |
|
Anemia, Thrombocytopenia, Pancreatitis, Abnormality of neutrophils |
ORPHA:36426 |
Classic Homocystinuria |
|
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:394 |
Infantile Krabbe Disease |
|
Respiratory distress, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Re... |
ORPHA:206436 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Agenesis of corpus callosum, Recurrent aspiration pneumonia |
OMIM:300472 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy... |
ORPHA:90321 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Abnormal globus pallidus morphology |
OMIM:251000 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Vacuolated lymphocytes, Pancreatitis, Hepatomegaly |
ORPHA:565612 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Secondar... |
OMIM:618820 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Hepatiti... |
OMIM:615846 |
Isolated Biliary Atresia |
|
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... |
ORPHA:30391 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Multifocal hyperintensi... |
ORPHA:308552 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
Bohring-Opitz Syndrome |
|
Microcephaly, Inability to walk, Lower limb hypertonia, Hypoplasia of the corpus callosum, Agenes... |
ORPHA:97297 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum... |
OMIM:304050 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... |
OMIM:610199 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Microcephaly, Self-injurious behavior, Agenesis of corpus callosum, Cerebral co... |
ORPHA:847 |
Monosomy 13Q34 |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:96168 |
Apert Syndrome |
|
Absent septum pellucidum, Megalencephaly, Hydrocephalus, Chiari type I malformation, Cerebellar h... |
OMIM:101200 |
Reynolds Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia |
OMIM:613471 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... |
ORPHA:731 |
Sotos Syndrome |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Attention deficit hyperactivity... |
OMIM:117550 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo |
OMIM:240300 |
Diaphanospondylodysostosis |
|
Respiratory distress, Polymicrogyria, Tracheomalacia, Respiratory insufficiency |
OMIM:608022 |
Usher Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:886 |
Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Chiari malformation, Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivit... |
ORPHA:2131 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical ... |
OMIM:210710 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress |
ORPHA:226313 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Abnormal cortical gyration, Cerebellar hypoplasia, Hypoplasia of the corpus... |
OMIM:300968 |
Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D... |
ORPHA:466768 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Dyspnea, Hyperintensity of cerebral white matter on MRI, Pulmonary arterial... |
ORPHA:363705 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly |
OMIM:612918 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor, Dysphagia |
ORPHA:100050 |
Orofaciodigital Syndrome Type 5 |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:2919 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha... |
OMIM:301043 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Atypical or prolonged hepatitis, Jaundice, Anemia, ... |
OMIM:277900 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Microcephaly, Head-banging, Lateral ventricle dilatation, Abnormal temper t... |
ORPHA:177907 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Microcephaly |
ORPHA:250989 |
Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
Biotinidase Deficiency |
|
Respiratory distress, Myelopathy, Apnea, Hyperventilation |
ORPHA:79241 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Microcephaly, Spastic tetraplegia, Spastic diplegia, Hypoplasia of the co... |
OMIM:206900 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Cerebral cortic... |
ORPHA:1546 |
Biotinidase Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:253260 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Tachypnea, Cough, Cerebellar malformation, Agenesis of corpus callosum |
ORPHA:137675 |
Coffin-Siris Syndrome |
|
Hyperactivity, Aggressive behavior, Microcephaly, Simplified gyral pattern, Aspiration pneumonia,... |
ORPHA:1465 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce... |
OMIM:311200 |
Holoprosencephaly 1 |
|
Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c... |
OMIM:236100 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Pigmentary retinopathy |
OMIM:203800 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Hypoplasia of the corpus callosum |
ORPHA:79330 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Microcephaly, Atrophy of the spinal cord, Hydrocephalus... |
ORPHA:79282 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Optic disc pallor, Pigmentary retinopathy |
OMIM:214100 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, Ci... |
ORPHA:77293 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect |
OMIM:183900 |
Heterotaxy, Visceral, 2, Autosomal |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:605376 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Agenesis of corpus callosum, Cerebellar cyst |
OMIM:613091 |
Marden-Walker Syndrome |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ... |
ORPHA:2461 |
Fryns Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation |
ORPHA:2059 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hemiplegia/hemiparesis, Cerebellar hypoplasia, Agenesis of ... |
ORPHA:42775 |
Orofaciodigital Syndrome V |
|
Microcephaly, Agenesis of corpus callosum, Overfriendliness |
OMIM:174300 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent pneumonia, Progressive microcephaly |
OMIM:607143 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Perip... |
ORPHA:191 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... |
ORPHA:790 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp... |
OMIM:615948 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Cere... |
OMIM:249000 |
Williams Syndrome |
|
Ataxia, Involuntary movements, Atrophy/Degeneration involving the corticospinal tracts, Tremor, M... |
ORPHA:904 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Progressive microcephaly, Microcephaly |
OMIM:610536 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Dysphagia, Cerebral edema |
ORPHA:319213 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Microcephaly, Hydrocephalus, Dural ectasia, Chiari type I malformation, Inappropria... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Microcephaly, Hydrocephalus, Dural ectasia, Chiari type I malformation, Inappropria... |
ORPHA:363958 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea |
ORPHA:26793 |
Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Mgat2-Cdg |
|
Respiratory distress, Progressive microcephaly, Cerebellar hypoplasia, Stereotypical hand wringing |
ORPHA:79329 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... |
OMIM:209900 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:505248 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
Esophageal Atresia |
|
Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v... |
ORPHA:1199 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/rem... |
ORPHA:255210 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... |
ORPHA:580 |
Cockayne Syndrome A |
|
Retinal atrophy, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased ... |
OMIM:216400 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus callosum, Hypoplasia of th... |
ORPHA:508498 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
ORPHA:805 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepatic fibros... |
ORPHA:2072 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Abnormal basal ganglia MRI signal intensity, Apnea, Aggressive behavior, Mi... |
ORPHA:17 |
Hartsfield Syndrome |
|
Microcephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Agenesis of corpus callosum, Sem... |
OMIM:615465 |
Hepatoerythropoietic Porphyria |
|
Erythroid hyperplasia, Hemolytic anemia, Splenomegaly |
ORPHA:95159 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Agenesis of corpus callosum, Difficulty walking |
OMIM:618748 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Lymphadenopathy, Anemia, Hepatomegaly |
ORPHA:667 |
Vici Syndrome |
|
Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Dysphagia, Agenesis of corpus callosum |
OMIM:242840 |
Right Atrial Isomerism |
|
Agenesis of corpus callosum |
OMIM:208530 |
Fanconi Anemia, Complementation Group D2 |
|
Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Attention deficit hyperactivity d... |
OMIM:227646 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Microcephaly |
ORPHA:438216 |
Hardikar Syndrome |
|
Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hypertension, Hypersplenism, Sple... |
OMIM:301068 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Ischemic stroke, Cough, Hyper... |
ORPHA:90068 |
Jacobsen Syndrome |
|
Death in infancy, Spina bifida, Cerebral atrophy, Attention deficit hyperactivity disorder, Pachy... |
ORPHA:2308 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Stillbirth, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Primary microceph... |
OMIM:256520 |
Orofaciodigital Syndrome Type 1 |
|
Tremor, Ataxia, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:2750 |
Mosaic Trisomy 8 |
|
Agenesis of corpus callosum |
ORPHA:96061 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:614230 |
Toriello-Lacassie-Droste Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:3339 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... |
OMIM:151050 |
Camurati-Engelmann Disease |
|
Splenomegaly, Leukopenia, Anemia, Hepatomegaly |
ORPHA:1328 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th... |
ORPHA:434179 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Microcephaly, Impaired pain sensation, Inability to walk, Hypoplasia of t... |
ORPHA:453504 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Death in infancy, Hyperactivity, Diffuse cerebral atrophy, Aggressive behavio... |
OMIM:270400 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Microcephaly, Impaired pain sensation, Inability to walk, Hypoplasia of t... |
ORPHA:352665 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Splenomegaly, Leukocytosis, Jaundic... |
ORPHA:99827 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Cough, Restrictive ventilatory defect, Dysphagia, Polydipsia |
ORPHA:537 |
Wolf-Hirschhorn Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Ataxia, Microcephaly |
ORPHA:280 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hydrocephalus |
ORPHA:1555 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Anemia, Increased hepatic echogenicity, Bile duct ... |
OMIM:619525 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy, Axonal loss |
ORPHA:404454 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... |
ORPHA:636 |
Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity |
OMIM:305450 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Partial agenesis of the corpus callosum, Hydrocephalus, Tracheomalacia, Spina bifida occulta |
OMIM:300373 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei |
OMIM:618019 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial agenesis of the corpus callosum, Microcephaly |
OMIM:617478 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... |
ORPHA:217085 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Self-mutilation, Primary microcephaly |
ORPHA:1051 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus |
ORPHA:14 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm... |
ORPHA:2556 |
Craniofrontonasal Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:304110 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Tremor, Partial agenesis of the corpus callos... |
OMIM:220111 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils |
ORPHA:235 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... |
ORPHA:217093 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Sensory axonal neuropathy |
OMIM:607459 |
Trisomy 18 |
|
Abnormality of retinal pigmentation |
ORPHA:3380 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Medias... |
OMIM:181000 |
Chromosome 13Q14 Deletion Syndrome |
|
Absent septum pellucidum, Agenesis of corpus callosum, Holoprosencephaly, Hypoplasia of the corpu... |
OMIM:613884 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Epistaxis, Aggr... |
OMIM:619841 |
Mucopolysaccharidosis Type 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
ORPHA:581 |
Trisomy 8P |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
ORPHA:264450 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hypertonia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619194 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin |
OMIM:234200 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Aganglionic megacolon |
ORPHA:175 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Cirrhosis, Hepatic steat... |
OMIM:269700 |
Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of respiration,... |
ORPHA:31826 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ... |
OMIM:133540 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Hepatomegaly |
OMIM:612132 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Microcephaly, Impaired oropharynge... |
OMIM:615273 |
Fryns Syndrome |
|
Hypoplasia of the optic tract, Stillbirth, Hypoplasia of olfactory tract, Chylothorax, Agenesis o... |
OMIM:229850 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Tachypnea, Pneumonia |
ORPHA:36234 |
Farber Disease |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:333 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Restrict... |
ORPHA:536467 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... |
ORPHA:91500 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Abnormal cerebral white matter morphology, Hypoplasia of the corpus callos... |
ORPHA:506358 |
Coffin-Siris Syndrome 4 |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:614609 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Hyperactivity, Spina bifida, Impulsivity, Microcephaly, Hyperintensity of c... |
OMIM:180849 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Bruxism, Agenesis of corpus callosum, Cerebellar cortical atrophy |
ORPHA:48652 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy |
OMIM:277400 |
Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Microcephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor... |
OMIM:157170 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Abnormal cerebellum morphology, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:226307 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion, Leukoencephalopathy |
OMIM:620369 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Partial agenesis of the corpus callosum, Tethered cord, Thin corpus callosum, Spina bifida |
OMIM:619480 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Partial agenesis... |
OMIM:610829 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Severe hydrocephal... |
OMIM:236680 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Pleur... |
ORPHA:340 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum |
ORPHA:306542 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Aggressive behavior, Microcephaly, Hydrocephalus, Polymicrogyria, Polyphagia, Leukoencephalopathy... |
OMIM:607872 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Communicating hydrocephalus |
OMIM:618188 |
Monosomy 9P |
|
Hypertonia, Agenesis of corpus callosum, Microcephaly |
ORPHA:261112 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Abnormal brainstem MRI signal intensity, Respirator... |
ORPHA:533 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d... |
OMIM:114290 |
Degcags Syndrome |
|
Pneumonia, Oral-pharyngeal dysphagia, Microcephaly, Asthma, Rhinitis, Choking episodes, Tracheoma... |
OMIM:619488 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Wiedemann-Rautenstrauch Syndrome |
|
Ataxia, Action tremor, Tremor, Hydrocephalus, Chiari type I malformation, Hypertonia, Cerebellar ... |
ORPHA:3455 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Agenesis of corpus callosum |
OMIM:618419 |
Blau Syndrome |
|
Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy |
ORPHA:90340 |
Nijmegen Breakage Syndrome |
|
Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo |
OMIM:251260 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Emphysema, Microcephaly |
OMIM:224690 |
Perlman Syndrome |
|
Agenesis of corpus callosum |
OMIM:267000 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Hypertonia, Chiari malformation, Truncal ataxia, Agenesis of corpus callosum, Dand... |
OMIM:264090 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Asthma, Nasal flaring, Self-injurious behavior, Attention deficit hyperactiv... |
ORPHA:466943 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2658 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Apnea, Hydrocephalus |
OMIM:261740 |
Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy |
OMIM:618460 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Chiari type I malformation, Neural tube defect, Hypopl... |
ORPHA:798 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy |
ORPHA:411629 |
Wolf-Hirschhorn Syndrome |
|
Tethered cord, Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Agen... |
OMIM:194190 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensit... |
ORPHA:261537 |
Acrocallosal Syndrome |
|
Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum |
OMIM:200990 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation |
OMIM:272460 |
Microgastria-Limb Reduction Defect Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration |
ORPHA:2538 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Microcephaly, Dysphagia, Primary microcephal... |
OMIM:616268 |
14Q22Q23 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:264200 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Eosinophilia, Hydrocephalus, Pleural empyema, Cough, Exudative p... |
ORPHA:228123 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Hyperactivity, Optic nerve hypoplasia, Tics, Secondary microcephaly, Hypopl... |
ORPHA:508488 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Primary microcephaly, Pach... |
ORPHA:3472 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Microcephaly |
ORPHA:2554 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
1P36 Deletion Syndrome |
|
Microcephaly, Polyphagia, Self-injurious behavior, Agenesis of corpus callosum, Dysphagia, Abnorm... |
ORPHA:1606 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:168558 |
Cystinosis, Nephropathic |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm... |
OMIM:219800 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Agenesis of corpus... |
ORPHA:261552 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy |
OMIM:617156 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:289548 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere... |
ORPHA:2273 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia |
OMIM:306955 |
Baller-Gerold Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Chiari malformation, Spina bifida occulta, Agenesis of cor... |
OMIM:218600 |
Ring Chromosome 13 Syndrome |
|
Anencephaly, Agenesis of corpus callosum, Microcephaly |
ORPHA:96176 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Diffuse leukoencephalopathy |
OMIM:256810 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... |
ORPHA:744 |
Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:373 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Syringomyelia |
OMIM:119600 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai... |
ORPHA:79474 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Coffin-Siris Syndrome 1 |
|
Microcephaly, Partial agenesis of the corpus callosum, Gait ataxia, Hypoplasia of the corpus call... |
OMIM:135900 |
Focal Dermal Hypoplasia |
|
Microcephaly, Hydrocephalus, Myelomeningocele, Chiari malformation, Spina bifida occulta, Agenesi... |
OMIM:305600 |
Mowat-Wilson Syndrome |
|
Focal cortical dysplasia, Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar ... |
ORPHA:2152 |
Gitelman Syndrome |
|
Respiratory distress, Polydipsia, Salt craving, Cerebral calcification |
ORPHA:358 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Respiratory distress, Cerebellar vermis hypoplasia, Abnormal cortical g... |
ORPHA:480880 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Holoprosencephaly, Agene... |
ORPHA:95494 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cardiomegaly, Splenomegaly, Ascites |
ORPHA:75565 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure |
ORPHA:79404 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Alagille Syndrome 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:118450 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... |
ORPHA:95455 |
Mowat-Wilson Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... |
OMIM:235730 |
Genitopatellar Syndrome |
|
Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:606170 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Respiratory insufficiency, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malfo... |
ORPHA:93271 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma |
ORPHA:221 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Microcephaly |
OMIM:614748 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Diffuse cerebral atrophy, Microcephaly |
ORPHA:83617 |
Leptospirosis |
|
Respiratory distress, Pleural effusion, Anorexia, Cough |
ORPHA:509 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Cerebral white matter atrophy, Abnormal globus pallidus morphology, Recurre... |
ORPHA:99646 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Neonatal respiratory distress, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydroce... |
OMIM:312870 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pigmentary retinopathy, Orthostatic hypotension |
OMIM:606721 |
Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art... |
ORPHA:97214 |
Peters-Plus Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:261540 |
Townes-Brocks Syndrome |
|
Chiari malformation, Agenesis of corpus callosum |
ORPHA:857 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Cerebellar hypoplasia, Aspiration pneumonia, Hypoplas... |
OMIM:216340 |
Plague |
|
Respiratory distress, Acute infectious pneumonia, Anorexia |
ORPHA:707 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum |
OMIM:164210 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
Kallmann Syndrome |
|
Tremor, Gait disturbance, Ataxia, Paraplegia |
ORPHA:478 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress |
ORPHA:2255 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cerebral calcification, Encephalomalacia |
ORPHA:51608 |
Pmm2-Cdg |
|
Respiratory distress, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Aspiration pneumonia, ... |
ORPHA:79318 |
Alström Syndrome |
|
Respiratory distress, Chronic pulmonary obstruction, Recurrent pneumonia, Restrictive ventilatory... |
ORPHA:64 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
|
ORPHA:2744 |