Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:300085 |
Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
Retinitis Pigmentosa 24 |
|
Cone dystrophy, Rod-cone dystrophy |
OMIM:300155 |
Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Choroidal Dystrophy, Central Areolar, 3 |
|
Drusen, Chorioretinal atrophy |
OMIM:613144 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... |
OMIM:604213 |
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 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:171703 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum |
OMIM:166990 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ... |
OMIM:610031 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... |
OMIM:614019 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... |
ORPHA:208441 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... |
OMIM:608716 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C... |
OMIM:615771 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum |
ORPHA:85334 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum |
OMIM:619501 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401830 |
Lissencephaly, X-Linked, 1 |
|
Pachygyria, Agenesis of corpus callosum, Agyria, Lissencephaly |
OMIM:300067 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401820 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalizati... |
ORPHA:3077 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Fetal Akinesia Syndrome, X-Linked |
|
Agenesis of corpus callosum |
OMIM:300073 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Lissencephaly 3 |
|
Microcephaly, Polymicrogyria, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Agene... |
OMIM:611603 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:85179 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... |
ORPHA:171680 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly |
OMIM:619466 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog... |
ORPHA:309246 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Band Heterotopia |
|
Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicr... |
OMIM:600348 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Inabili... |
OMIM:617864 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum |
OMIM:614833 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Absent septum pellucidum, Lissencephaly |
OMIM:218670 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Irritabilit... |
OMIM:616881 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly |
ORPHA:2512 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Agenesis of corpus callosum, Lissencephaly, Microcephaly |
ORPHA:1528 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
OMIM:604804 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... |
OMIM:616900 |
Hydrocephalus, Congenital, X-Linked |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:307000 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Microphthalmia, Syndromic 11 |
|
Agenesis of corpus callosum |
OMIM:614402 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno... |
ORPHA:1020 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... |
OMIM:240500 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
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 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tr... |
ORPHA:255138 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Cerebellar vermis hypoplasia, Reduced cerebral white matter volume, Hypoplasia o... |
OMIM:615574 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:614226 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... |
ORPHA:2524 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive, Cerebral cortical atrophy, Microcephaly |
OMIM:618201 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
Septooptic Dysplasia |
|
Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:182230 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Agenesis of corpus callosum |
OMIM:614120 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response, Hypoplasia of the frontal lobes |
ORPHA:163985 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vib... |
ORPHA:2388 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Cerebral calcification, Cerebellar vermis hypoplasia, Exaggerated startle response... |
OMIM:617281 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Secondary micro... |
OMIM:618056 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Orotic Aciduria |
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Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Stiff Person Spectrum Disorder |
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Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Tay-Sachs Disease |
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Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Microcephaly 26, Primary, Autosomal Dominant |
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Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Kapur-Toriello Syndrome |
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Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Oculoskeletodental Syndrome |
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Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dementia, Chorea, Dystonia |
OMIM:272750 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Inability to walk, Exaggerated startle response, Hypoplasia of the corpus callosum, Depression |
OMIM:620114 |
Tay-Sachs Disease |
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Short attention span, Exaggerated startle response, Hypointensity of cerebral white matter on MRI... |
ORPHA:845 |
Autosomal Recessive Cutis Laxa Type 2A |
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Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... |
ORPHA:357058 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Abnormal cortical gyration, Cessation of head growth, Dysphagia, Hy... |
OMIM:617527 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... |
OMIM:619103 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking |
ORPHA:320406 |
Sandhoff Disease |
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Exaggerated startle response, Progressive psychomotor deterioration, Ataxia, Impaired temperature... |
OMIM:268800 |
Plaa-Associated Neurodevelopmental Disorder |
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Cerebral white matter atrophy, Exaggerated startle response, Abnormal cortical gyration, Microcep... |
ORPHA:521426 |
Roifman Syndrome |
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Decreased circulating antibody level, Decreased T cell activation, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Dysplastic corpus callosum |
OMIM:618810 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response, Ataxia |
OMIM:618598 |
Bare Lymphocyte Syndrome, Type Ii |
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Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Inability to walk, Exaggerated startle response |
OMIM:609541 |
Cerebrofacioarticular Syndrome |
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Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Micro... |
ORPHA:314679 |
Schimke Immuno-Osseous Dysplasia |
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Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ... |
ORPHA:1830 |
Developmental And Epileptic Encephalopathy 8 |
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Frontal polymicrogyria, Exaggerated startle response, Hypoplasia of the frontal lobes |
OMIM:300607 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Congenital Disorder Of Glycosylation, Type Iil |
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Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... |
OMIM:614576 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Microcephaly, Hypoplasia of the corpus callosum, Dysphagia |
OMIM:617301 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Hereditary Orotic Aciduria |
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Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum |
ORPHA:363444 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Exaggerated startle response, Tremor, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasi... |
OMIM:620327 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Microcephaly, Irritability, Hypoplasia of the corpus callosum, Dysp... |
OMIM:618367 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus, Depression |
OMIM:184850 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Progressive macrocephaly, Cerebral cortical atrophy |
ORPHA:309155 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,... |
OMIM:620330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hypoplasia of the brains... |
OMIM:253800 |
Trichotillomania |
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Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Genitourinary And/Or Brain Malformation Syndrome |
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Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym... |
OMIM:618820 |
Vici Syndrome |
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Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... |
OMIM:242840 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353281 |
Lenz-Majewski Hyperostotic Dwarfism |
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Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:151050 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Splenomegaly, Impaired T cell function |
OMIM:201100 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Gm1 Gangliosidosis Type 1 |
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Diffuse cerebral atrophy, Exaggerated startle response, T2 hypointense basal ganglia, Diffuse whi... |
ORPHA:79255 |
Immunodeficiency 58 |
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Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... |
OMIM:618131 |
Immunodeficiency 17 |
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Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum |
OMIM:619426 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Zttk Syndrome |
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Dysplastic corpus callosum, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Abno... |
OMIM:617140 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:447997 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353277 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white matter morphology, ... |
ORPHA:500150 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
Monosomy 22Q13.3 |
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Impaired pain sensation, Hair-pulling, Hyperactivity, Bruxism |
ORPHA:48652 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:466791 |
Sarcoidosis, Susceptibility To, 1 |
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Splenomegaly, Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology |
OMIM:181000 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Exaggerated startle response, Dystonia, Absent septum pellucidum, Inability to ... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Microcephaly, Attention deficit hyperactivity disorder, Dysphagia, ... |
OMIM:619522 |
Witteveen-Kolk Syndrome |
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Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
22Q11.2 Deletion Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia |
ORPHA:567 |
Pitt-Hopkins Syndrome |
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Microcephaly, Gait ataxia, Self-injurious behavior, Secondary microcephaly, Hypoplasia of the cor... |
OMIM:610954 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
Pitt-Hopkins Syndrome |
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Ataxia, Aggressive behavior, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Gait ataxia... |
ORPHA:2896 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
Digeorge Syndrome |
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Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia |
OMIM:188400 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Polyclonal elevation of IgM, Hepatosplenomegaly, Hi... |
ORPHA:171 |
Fuchs Endothelial Corneal Dystrophy |
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ORPHA:98974 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
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OMIM:613267 |