Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure |
ORPHA:46532 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... |
OMIM:604213 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Lissencephaly 1 |
|
Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cereb... |
OMIM:607432 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Spastic tetraplegia, Hypertonia, Lissencephaly, Cerebellar hypoplasia, Pe... |
OMIM:618677 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Microlissencephaly |
|
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Ataxia, Spastic tetrap... |
OMIM:611603 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Cerebellar vermis atrophy, Spasticity |
OMIM:618185 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Spastic paraplegia, Cerebellar hypoplasia |
OMIM:618572 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Hydrocephalus, Cerebellar hypoplasia, Dolichocephaly, Dandy-Walker malformation,... |
ORPHA:1538 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology |
ORPHA:2703 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Spastic tetraplegia, Hypertonia, Lissencephaly, Pachygyria, Polymicrogyria, V... |
OMIM:618730 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Hydrocephalus, Abnormality of neuronal migration, Attention deficit hyperactivity disorde... |
OMIM:618709 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Spastic tetrapl... |
OMIM:619302 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morphology, Hydrocephalus... |
ORPHA:1532 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy |
OMIM:617018 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Gray matter heterotopia, Spasticity, Pachygyria, Agyria, Ventriculomegaly |
ORPHA:1084 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Mental deterioration, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality ... |
ORPHA:79262 |
Lissencephaly 4 |
|
Babinski sign, Simplified gyral pattern, Colpocephaly, Hypertonia, Lissencephaly, Cerebellar hypo... |
OMIM:614019 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Pachyg... |
OMIM:615411 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Oromotor apraxia, Hemipar... |
ORPHA:300573 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Cerebella... |
ORPHA:352682 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Gray matter heterotopia, Lateral vent... |
OMIM:600348 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... |
ORPHA:945 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Cerebellar hy... |
OMIM:615768 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Dandy-Walker malformation |
OMIM:123155 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri... |
ORPHA:37748 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... |
ORPHA:210110 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly |
ORPHA:2204 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Craniotelencephalic Dysplasia |
|
Frontal bossing, Craniosynostosis, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebella... |
ORPHA:1528 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Dementia, Abnormality ... |
OMIM:615362 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hyp... |
OMIM:613153 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Flat occiput, Simplified gyral pattern, Cerebellar hypoplasia, Attention deficit hyperactivity di... |
OMIM:608716 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... |
OMIM:615191 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615938 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Dolichocephaly, ... |
OMIM:616531 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Ataxia, Tremor |
OMIM:615945 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
ORPHA:171703 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Mental deterioration |
OMIM:616187 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, Osteopetrosis... |
OMIM:620366 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Gait ataxia |
ORPHA:423296 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Ventriculomegaly |
OMIM:614830 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callos... |
OMIM:300067 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220200 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Spasticity, Polymicrogyria, Agenesis ... |
ORPHA:101029 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615937 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia, Cognitive impairment |
ORPHA:2807 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... |
ORPHA:100024 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Pineocytoma |
|
Hydrocephalus, Cognitive impairment, Episodic ataxia, Memory impairment, Increased CSF protein co... |
ORPHA:251912 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Abnormal cortical gyration, Parkinsonism, Olivopontocerebellar hypoplasia, Kinet... |
ORPHA:98756 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gyral pattern, Cerebellar h... |
OMIM:618273 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Frequent falls, Ventriculomegaly, Cerebe... |
ORPHA:370980 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif... |
OMIM:616212 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Fried Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Thickened calvaria, Spastic diplegia |
ORPHA:85335 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Tetraparesis, Periventricular heterotopia |
OMIM:608097 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyri... |
OMIM:615181 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner... |
ORPHA:848 |
Maternal Hyperthermia-Induced Birth Defects |
|
Hypertonia, Abnormality of neuronal migration, Cognitive impairment, Midface retrusion |
ORPHA:2216 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Hydrocephalus, Spastic tetraplegia, Hypertonia, Cerebellar hypoplasia, Pachygyria |
OMIM:618174 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Cerebellar malformation, Type II lissen... |
ORPHA:324416 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Rickets of the l... |
ORPHA:882 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia |
ORPHA:1802 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis... |
OMIM:616053 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
Symmetrical Thalamic Calcifications |
|
Ataxia, Abnormality of neuronal migration, Hypertonia, Cognitive impairment, Spasticity |
ORPHA:1314 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Lateral ... |
OMIM:615889 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Spastic tetraparesis, Pachygyria, Cryptorchidism, Simplified gyral pattern, Abnormality of neuron... |
OMIM:604317 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Tremor, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... |
ORPHA:98763 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology,... |
OMIM:203450 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... |
ORPHA:89844 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Hypersplenis... |
ORPHA:77259 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ... |
OMIM:616171 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Cryptorchidism, Abnormality... |
OMIM:300957 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Sple... |
OMIM:259700 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Hemimegalencephaly |
|
Ventriculomegaly, Cranial asymmetry, Hemiparesis, Gray matter heterotopia, Myoclonus, Pachygyria,... |
ORPHA:99802 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Dandy-Walker malformation, Gray matter heterotopia, Superior cerebellar dyspl... |
OMIM:617622 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... |
ORPHA:363710 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Oculomotor apraxia, Abnormal ... |
OMIM:617145 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly |
OMIM:611808 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Spinocerebellar Ataxia 23 |
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Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Agenesis of corpu... |
OMIM:610245 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Tremor, Hydrocephalus, Simplified gyral pattern, Spastic tetraparesis |
OMIM:619470 |
Spinocerebellar Ataxia 18 |
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Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
X-Linked Non Progressive Cerebellar Ataxia |
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Cerebellar vermis hypoplasia, Babinski sign, Clumsiness, Spastic dysarthria, Cerebellar hypoplasi... |
ORPHA:314978 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Cryptorchidism, Abnormality of neuronal migration, Decreased calvarial ossification, Aplasia/Hypo... |
ORPHA:2772 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Spinocerebellar Ataxia Type 32 |
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Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Cognitive impai... |
ORPHA:276183 |
Leber Congenital Amaurosis |
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Encephalocele, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Aplasia/Hypoplasia of t... |
ORPHA:65 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Bone Marrow Failure Syndrome 6 |
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Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Osteochondrosis Of The Metatarsal Bone |
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Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Basal Ganglia Calcification, Idiopathic, 1 |
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Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Atypical Teratoid Rhabdoid Tumor |
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Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia |
ORPHA:99966 |
Chiari Malformation Type Ii |
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Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Gray matter heterotopia, Cer... |
OMIM:207950 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Axial Osteomalacia |
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Increased bone mineral density, Polycystic liver disease, Osteomalacia, Renal cyst |
OMIM:109130 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia... |
ORPHA:521406 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Ventricu... |
ORPHA:370959 |
Mueller-Weiss Syndrome |
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Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Lichtenstein-Knorr Syndrome |
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Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Congenital Hydrocephalus |
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Frontal bossing, Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventricu... |
ORPHA:2185 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Spinocerebellar Ataxia 48 |
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Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
Majeed Syndrome |
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Hepatomegaly, Increased bone mineral density, Osteomyelitis, Proteinuria, Congenital hypoplastic ... |
ORPHA:77297 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
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Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Progressiv... |
ORPHA:1170 |
Spermatogenic Failure, X-Linked, 5 |
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Male infertility, Reduced progressive sperm motility, Irregularly shaped sperm tail, Coiled sperm... |
OMIM:301099 |
Spinocerebellar Ataxia 7 |
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Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Spinocerebellar Ataxia 50 |
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Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impa... |
OMIM:620158 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
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Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity, Cerebellar hypoplasia, Inferi... |
OMIM:304100 |
Spermatogenic Failure 72 |
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Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
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Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm axoneme cent... |
OMIM:618153 |
Immunodeficiency 69 |
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Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Cryohydrocytosis |
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Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Sclerosteosis |
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Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Craniofacial Dyssynostosis With Short Stature |
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Frontal bossing, Cryptorchidism, Hydrocephalus, Brachycephaly, Chiari type I malformation, Abnorm... |
OMIM:218350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
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Babinski sign, Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration |
OMIM:608840 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Increased CSF lactate, Progressive cerebella... |
ORPHA:139485 |
Hydrocephalus, Congenital, 1 |
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Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Ce... |
OMIM:213200 |
Distal 7Q11.23 Microduplication Syndrome |
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Cryptorchidism, Hydrocephalus, Frontal encephalocele, Chiari malformation, Attention deficit hype... |
ORPHA:261102 |
Melorheostosis |
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Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Spermatogenic Failure 33 |
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Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
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Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
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Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
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Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
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Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Coenzyme Q10 Deficiency, Primary, 9 |
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Cerebellar atrophy, Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myocl... |
OMIM:619028 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
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Cerebellar atrophy, Atrophy of the dentate nucleus, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdi... |
OMIM:610185 |
Spermatogenic Failure 57 |
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Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
2,4-Dienoyl-Coa Reductase Deficiency |
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Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Increased CSF lac... |
OMIM:616034 |
Spermatogenic Failure 50 |
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Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Bilateral Striopallidodentate Calcinosis |
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Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria,... |
OMIM:614831 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Beta-Thalassemia Intermedia |
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Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Spermatogenic Failure 65 |
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Male infertility, Reduced progressive sperm motility, Oligozoospermia, Coiled sperm flagella, Irr... |
OMIM:619712 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
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Hydrocephalus |
OMIM:600257 |
Spermatogenic Failure 43 |
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Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
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Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
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Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
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Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
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Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Ataxia, Periventricular heterotopia, Abnormal calvaria morphology, Cerebellar hypoplasia, Pachygy... |
ORPHA:255138 |
Infantile Neuronal Ceroid Lipofuscinosis |
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Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coor... |
ORPHA:79263 |
Hb Bart'S Hydrops Fetalis |
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Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Spermatogenic Failure 73 |
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Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
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Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
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Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spastic Paraplegia 78, Autosomal Recessive |
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Cerebellar atrophy, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign,... |
OMIM:617225 |
Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
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Frontal polymicrogyria, Cerebellar vermis hypoplasia, Spastic tetraplegia, Plagiocephaly, Pachygyria |
OMIM:614563 |
1Q21.1 Microduplication Syndrome |
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Frontal bossing, Cryptorchidism, Hydrocephalus, Hypertonia, Attention deficit hyperactivity disorder |
ORPHA:250994 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... |
OMIM:617967 |
Sandhoff Disease, Adult Form |
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Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity |
ORPHA:309169 |
Congenital Disorder Of Glycosylation, Type Iid |
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Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Spermatogenic Failure 56 |
|
Male infertility, Reduced progressive sperm motility, Oligozoospermia, Coiled sperm flagella, Irr... |
OMIM:619515 |
Megalencephaly, Autosomal Dominant |
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Hydrocephalus |
OMIM:155350 |
Osteopetrosis, Autosomal Recessive 3 |
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Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Cerebellar atrophy, Ataxia, Tremor, Dysmetria |
OMIM:617917 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Osteopetrosis, Autosomal Dominant 3 |
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Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia |
OMIM:618107 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Cognitive impairment, Dystonia, Memory... |
ORPHA:401901 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Dandy-Walker Malformation With Postaxial Polydactyly |
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Dilated fourth ventricle, Frontal bossing, Agenesis of cerebellar vermis, Partial absence of cere... |
OMIM:220220 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Beta-Propeller Protein-Associated Neurodegeneration |
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Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic par... |
ORPHA:329284 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Rapid-Onset Dystonia-Parkinsonism |
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Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... |
ORPHA:101070 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Bicoronal synostosis, Turricephaly, Craniosynostosis, Parietal foramina, Brac... |
OMIM:616602 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal tremor |
ORPHA:363717 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Increased CSF lactate, Myoclonus |
OMIM:612016 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hydrocephalus, CSF lymphocytic pleiocytosis, Dystonia, Spasticity, Ventriculo... |
OMIM:610333 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Dysmetria, Gait ataxia |
OMIM:618090 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus... |
OMIM:218670 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration |
OMIM:300049 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm... |
ORPHA:33445 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Plagiocephaly, Agenesis of corpus callosum |
ORPHA:459074 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... |
ORPHA:101030 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Neurocutaneous Melanocytosis |
|
Ventriculomegaly, Meningocele, Abnormality of neuronal migration, Hemiparesis, Chiari malformatio... |
ORPHA:2481 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Ventriculomegaly, Subcortical heterotopia, Agyria, Type II lissen... |
OMIM:614643 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia |
OMIM:617916 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Masa Syndrome |
|
Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Agenesis of corpus callosum... |
OMIM:303350 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Oligozoospermia, Reduced sperm motility |
OMIM:619828 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Oculogyric crisis, Tremor, Dystonia, Delayed menarche |
ORPHA:330050 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... |
OMIM:615157 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia |
OMIM:618387 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Absent sperm axoneme... |
OMIM:301101 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Ataxia, Periventricular heterotopia, Rigidity, Hydrocephalus, Spastic tetrapleg... |
OMIM:618476 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Abnormality of neuron... |
ORPHA:475 |
Glutathionuria |
|
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Memory impairment, Hydrocephalus |
ORPHA:1008 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:613155 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Immotile sperm |
OMIM:612997 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Abnormal cerebrospinal fluid morphology, Tremor, Babinski ... |
ORPHA:251282 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Spermatogenic Failure 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Colpocephaly, Cerebellar hypoplasia, Polymicrogyria, Midface retrusion |
OMIM:618731 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Abnormal cortical gyration, Cryptorchidism, Polymicrogyria, Hydrocephalus, Abno... |
ORPHA:899 |
Spermatogenic Failure 63 |
|
Male infertility, Oligozoospermia, Decreased testicular size, Reduced progressive sperm motility |
OMIM:619689 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Spastic tetraplegia, Hemiplegia, Polymicrogyria, Ventriculomegaly |
OMIM:614483 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymic... |
OMIM:614219 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Hydrocephalus, Brachycephaly, Plagiocephaly, Dolichocephaly, Type II lissencephaly |
ORPHA:272 |
Developmental And Epileptic Encephalopathy 65 |
|
Cerebellar atrophy, Spasticity, Plagiocephaly, Ventriculomegaly |
OMIM:618008 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Frontal bossing, Ventriculomegaly, Proboscis, Periventricular heterotopia, Al... |
OMIM:619895 |
Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Holoprosencephaly, Cognitive impa... |
ORPHA:588 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apraxia, Spasticity |
OMIM:617810 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Increased CSF homovanillic a... |
OMIM:613135 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Dolichocephaly, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Abnormality of neuronal migration, Biparietal n... |
ORPHA:2518 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Biparietal narrowing,... |
ORPHA:220497 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonis... |
OMIM:300623 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum, Dand... |
OMIM:164180 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Progressive gait at... |
ORPHA:289494 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Dyst... |
OMIM:617435 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hydrocephalus |
OMIM:618302 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Craniosynostosis, Spastic tetraparesis, Cryptorchidism, Hydrocephalus, Brachycephal... |
ORPHA:171839 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Multiple suture craniosynostosis, Ch... |
ORPHA:207 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Polymicrogyria, Agenesis... |
OMIM:225790 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria, Type II... |
OMIM:615249 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Chiari malformation, Aplasia/Hypopla... |
ORPHA:93262 |
Kleeblattschaedel |
|
Hydrocephalus, Cloverleaf skull, Craniosynostosis |
OMIM:148800 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Cogn... |
ORPHA:216873 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenom... |
OMIM:259720 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Plagiocephaly, Lateral ventricle dilatati... |
OMIM:617751 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Brachycephaly, Dysmetria, Gait ataxia |
ORPHA:320385 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Cloverleaf skull, Hydrocephalus, Abnormality of neuronal migratio... |
ORPHA:93274 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype... |
OMIM:612714 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Tremor, Abnormal cerebellum morphology, Babinski sign, Slurre... |
ORPHA:137898 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Ba... |
OMIM:183090 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Agenesis of ... |
OMIM:618577 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Perisylvian polymicrogyria, Clumsiness, Choreoathetosis, Abnormal... |
OMIM:615673 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Gait ataxi... |
OMIM:208920 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Frontal bossing, Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Polymi... |
ORPHA:60040 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Truncal ataxia, Memory impairment |
ORPHA:98764 |
Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Hemiplegia/hemiparesis, Hydrocephalus, Cryptorchidism, Cerebellar hypoplasia, A... |
ORPHA:1647 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Abnormal pyramidal sign, Spastic diplegia, Spastic tetraplegia, Gray matter heterotopia, Cognitiv... |
OMIM:617008 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... |
ORPHA:397946 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Cerebellar hypoplasia, ... |
OMIM:620327 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Hydrocephalus, Plagiocephaly, Gray matter heterotopia, Lissencephaly, Cerebella... |
OMIM:617822 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Pachygyria, Hydrocephalus, Lissencephaly, Cerebellar... |
OMIM:253800 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Cerebellar vermis hypoplasia, Cryptorchidism, Hydrocephalus, Brachycephaly, Atten... |
OMIM:609757 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia |
ORPHA:65285 |
Spinocerebellar Ataxia Type 21 |
|
Rigidity, Tremor, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function |
OMIM:300884 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Torticollis, Cerebellar vermis hypoplasia, Flat occiput, Pa... |
ORPHA:300570 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle... |
OMIM:613154 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Flat occiput, Hypoplasia of the pons, Brachycephaly, Lateral ventricle dila... |
OMIM:618736 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Mental deterioration, Sp... |
ORPHA:542310 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic par... |
OMIM:300894 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Ventriculomegaly, Tremor, Cryptorchidism, Simplified gyral pattern, Gait ataxia, Hypogonadism, Po... |
OMIM:300354 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Hypoplasia of the pons, Torticollis, Plagiocephaly, Cerebellar hypoplasia |
OMIM:607313 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... |
ORPHA:157846 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Biparietal narrowing,... |
ORPHA:220493 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2512 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Splenomegaly, Osteopetrosis, Hepatomegaly |
OMIM:618541 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, H... |
ORPHA:163961 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... |
OMIM:612438 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Vent... |
OMIM:619556 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... |
ORPHA:240103 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Partial absence of cerebellar vermis, Hydr... |
OMIM:613150 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Abnormality of neurona... |
ORPHA:163681 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Cerebellar vermis atrophy |
OMIM:616719 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ata... |
OMIM:210000 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Cognitive impairment, Episodic ataxia, Memory impairment, Increased CSF protein co... |
ORPHA:251915 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... |
OMIM:300908 |
Edinburgh Malformation Syndrome |
|
Frontal bossing, Hydrocephalus, Hypertonia, Abnormality of neuronal migration |
ORPHA:1895 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis, Cryptorchidism, Hydrocephalus, Scaphocephaly, Abnormal calvari... |
OMIM:175700 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra... |
ORPHA:2318 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterior... |
OMIM:617013 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
47,Xyy Syndrome |
|
Male infertility, Macroorchidism, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, At... |
ORPHA:8 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Splenomegaly, Osteolysis... |
ORPHA:77261 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental deterioration,... |
OMIM:615924 |
Gomez-Lopez-Hernandez Syndrome |
|
Fusion of the cerebellar hemispheres, Turricephaly, Agenesis of cerebellar vermis, Cerebellar ver... |
OMIM:601853 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign... |
OMIM:607694 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Fetal ascites, Advanced ossification of carpal bones, Advanced tarsal... |
OMIM:215045 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Demen... |
OMIM:137440 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus, Scaphocephaly, Brachyceph... |
ORPHA:459061 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Plagiocephaly, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Periv... |
OMIM:619188 |
Developmental And Epileptic Encephalopathy 49 |
|
Frontal bossing, Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasci... |
OMIM:617281 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Hemiparesis, Agenesis of corpus callosum |
OMIM:617542 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism, Cerebellar dysplasia |
OMIM:250951 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Tremor, Myoclonus, Retrocollis, Cognitive impairment, Oromandibular dyston... |
OMIM:617284 |
Melanosis, Neurocutaneous |
|
Mental deterioration, Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Oligozoospermia, Reduced progressive sperm motility |
OMIM:620277 |
Man1B1-Cdg |
|
Frontal bossing, Resting tremor, Flat occiput, Periventricular heterotopia, Cerebellar hypoplasia... |
ORPHA:397941 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Progressive neurologic deterioration, Tremor, Cryptorchidism, Hypertonia, Aplasia/Hypoplasia of t... |
ORPHA:1192 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Cognitive impairment, ... |
ORPHA:314632 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly, Cerebellar... |
OMIM:616538 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect |
ORPHA:1931 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Polymicrogyria |
ORPHA:83473 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Hemangioblastoma |
|
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma |
ORPHA:252054 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Poor gross motor coordinatio... |
ORPHA:228360 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Hydrocephalus, Hypertonia, Skull asymmetry, Lissencephaly, Dandy-Walker malformation |
OMIM:612938 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation,... |
OMIM:312080 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Hydrocephalus, Babinski sign, Vocal cord paralysis, Hand tremor, Poor fine motor... |
ORPHA:99947 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Limb myoclonus, Periventricular nodular he... |
ORPHA:352582 |
Periventricular Nodular Heterotopia 7 |
|
Ataxia, Cryptorchidism, Choroid plexus cyst, Gray matter heterotopia, Dolichocephaly, Periventric... |
OMIM:617201 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Spastic paraplegia, Opisthotonus, ... |
OMIM:614969 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Tremor, Rigidity, CSF pleocytosis, Dementia, Cognitive impairment, Increased CSF protein ... |
OMIM:603472 |
Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Hydrocephalus, Gray matter heterotopia, Midface retrusion, Ven... |
ORPHA:2655 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Cryptorchidism, Plagiocephaly, Cerebellar hypoplasia, Polymicrogyria, Ventriculomegaly, Cerebella... |
ORPHA:500159 |
Tempi Syndrome |
|
Ascites, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Neu-Laxova Syndrome |
|
Ventriculomegaly, Abnormal cortical gyration, Spina bifida, Polymicrogyria, Abnormality of neuron... |
ORPHA:2671 |
Nasu-Hakola Disease |
|
Chorea, Hydrocephalus, Frontal lobe dementia, Oculomotor apraxia, Memory impairment, Spasticity, ... |
ORPHA:2770 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size, Hypothalamic hamartoma, Attention deficit hyperact... |
ORPHA:649929 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Frontal bossing, Hydrocephalus, Simplified gyral pattern, Gray matte... |
OMIM:615219 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria, Ven... |
OMIM:617397 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydroc... |
ORPHA:1454 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, F... |
OMIM:302800 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Cranial hyperostosis, Hyperkinetic movements, Upper limb spasticity, Decreased testicular... |
ORPHA:457240 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Tremor, Dysplastic corpus callosum, Primary amenorrhea, Hemipares... |
OMIM:619737 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysme... |
OMIM:614381 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:602501 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Oculomotor apraxia, Sp... |
ORPHA:529665 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, H... |
OMIM:619775 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Hy... |
OMIM:616505 |
Galloway-Mowat Syndrome 4 |
|
Plagiocephaly, Spasticity, Polymicrogyria, Cerebellar hypoplasia |
OMIM:617730 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Br... |
OMIM:261640 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Hydrocephalus, Craniosynostosis, Dolichocephaly |
ORPHA:1516 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Tor... |
OMIM:128100 |
Desmosterolosis |
|
Frontal bossing, Abnormal cortical gyration, Pachygyria, Rigidity, Hydrocephalus, Abnormality of ... |
ORPHA:35107 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation |
OMIM:619405 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Thrombo... |
ORPHA:2905 |
Pallister-Hall-Like Syndrome |
|
Chiari type I malformation, Occipital encephalocele, Hydrocephalus, Hypothalamic hamartoma |
OMIM:241800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Meningoencephalocele, H... |
OMIM:236670 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ata... |
OMIM:602481 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cerebellar atrophy, Cryptorchidism, Attention deficit hyperactivity disorder, Periventricular nod... |
OMIM:618659 |
Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias |
OMIM:250790 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Pettigrew Syndrome |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Gait ataxia, ... |
OMIM:304340 |
Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Cryptorchidism, Babinski sign, Perisylvian polymicrogyria, Brachycephaly, Spa... |
OMIM:615663 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cerebral palsy, Ataxia, Periventricular heterotopia, Hydrocephalus, Plagiocephaly, Colpocephaly, ... |
OMIM:619833 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Oligosacchariduria, Abnormal bone ... |
ORPHA:163649 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Increased urina... |
ORPHA:85188 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dyston... |
OMIM:617710 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Gait ataxia, Dysdiadochokinesis, D... |
ORPHA:247234 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Increased CSF lactate, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... |
ORPHA:99027 |
3C Syndrome |
|
Frontal bossing, Ventriculomegaly, Hydrocephalus, Abnormality of neuronal migration, Prominent oc... |
ORPHA:7 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Hydrocephalus, Agenesis of corpus callosum, Craniosynostosis |
ORPHA:380 |
Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Classic Galactosemia |
|
Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu... |
ORPHA:79239 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... |
ORPHA:282166 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene... |
ORPHA:157 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor apraxia, Perisylvian p... |
ORPHA:98889 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Craniosynostosis, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Pe... |
ORPHA:468631 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ataxia, Hydrocephalus, Spasticity, Rapid neurologic deterioration, Increased ... |
OMIM:272200 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Cryptorchidism, Brachycephaly, Hyp... |
ORPHA:228390 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Plagiocep... |
ORPHA:75857 |
4Q21 Microdeletion Syndrome |
|
Frontal bossing, Tremor, Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238750 |
12Q14 Microdeletion Syndrome |
|
Ectopic kidney, Abnormality of the spleen, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney |
ORPHA:94063 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
Gaucher Disease |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent ... |
ORPHA:355 |
Vici Syndrome |
|
Hypoplasia of the pons, Gray matter heterotopia, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:1493 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Brachycephaly, Cerebellar vermis hypoplasia, Polymicrogyria, Spasticity |
OMIM:612379 |
Krabbe Disease |
|
Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spasticity, Motor deterioration, Inc... |
OMIM:245200 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly |
OMIM:603387 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Orofaciodigital Syndrome Type 6 |
|
Frontal bossing, Cerebellar vermis hypoplasia, Ataxia, Tremor, Bilateral cryptorchidism, Abnormal... |
ORPHA:2754 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Hypertonia, Cogni... |
ORPHA:2065 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Hydrocephalus, Abnormal cortical gyration, Ventriculomegaly |
OMIM:614576 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Cryptorchidism, Spastic tetraplegia, Gray m... |
OMIM:620024 |
Dural Sinus Malformation |
|
Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myelopathy, Poor coordination, Hydrocephalu... |
ORPHA:97339 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Parietal foramina, Cryptorchidism, Choroid plexus cyst, Brachycephaly, Retrocerebe... |
OMIM:603671 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia |
OMIM:612561 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Diabetic Embryopathy |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Aplasia/Hypoplasia of the cere... |
ORPHA:1926 |
Medulloblastoma |
|
Ataxia, Cerebellar calcifications, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cogni... |
ORPHA:616 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus |
OMIM:615599 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Abnormal occipital bone morphology, Abnormal cer... |
ORPHA:2356 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Renal insufficiency, Dysuria, Retroperitoneal fibr... |
ORPHA:35687 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Persistence of hemoglobin F, Anemia, Nephroca... |
OMIM:260400 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly |
OMIM:615630 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventriculomegaly, Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618974 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus |
ORPHA:397951 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Increased CSF phenylalan... |
OMIM:233910 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Babinski sign, Ataxia, Hydrocephalus |
ORPHA:73256 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity, Agenes... |
ORPHA:2182 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Endocrine-Cerebroosteodysplasia |
|
Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Dolichocephaly, Aplasia/H... |
OMIM:612651 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia |
OMIM:612301 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Clonus, Hyp... |
OMIM:615574 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, HbH hemoglobin, Hypospadias, Microcytic anemia |
ORPHA:98791 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene... |
ORPHA:228308 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Plagiocephaly, Cryptorchidism, Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2063 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, ... |
OMIM:608091 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration, Dolichocephaly |
ORPHA:44 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:141333 |
Pfeiffer Syndrome |
|
Cloverleaf skull, Hydrocephalus, Chiari malformation, Coronal craniosynostosis, Brachyturricephaly |
OMIM:101600 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Ataxia, Hydrocephalus, Abnor... |
ORPHA:59315 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Short attention span, Exaggerated startle response, Incoordination, Dystonia,... |
ORPHA:845 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicro... |
OMIM:264480 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migr... |
ORPHA:2211 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Gait ataxia, Plagiocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Anemia |
OMIM:127000 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly, Cognitive impairment |
ORPHA:858 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:163966 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Cloverleaf skull, Hydrocephalus, Gray matter heterotopia, Midface retrusion |
OMIM:187600 |
Coffin-Lowry Syndrome |
|
Frontal bossing, Craniofacial hyperostosis, Abnormality of neuronal migration, Hypertonia, Progre... |
ORPHA:192 |
Aceruloplasminemia |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Peho Syndrome |
|
Cerebellar atrophy, Hydrocephalus, Biparietal narrowing, Midface retrusion, Ventriculomegaly |
ORPHA:2836 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Spastic tetraplegia |
OMIM:300886 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Abnormal cerebrospinal fluid morphology, Babinski sig... |
ORPHA:314404 |
Trisomy 1Q |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosu... |
ORPHA:261344 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Ventriculomegaly, Pachygyria, Hydrocephalus, Cerebellar hypoplasia, Myoclon... |
OMIM:253280 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Myelopathy, Increased CSF lactate, Cervi... |
OMIM:617186 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Spasticity |
OMIM:619694 |
Apert Syndrome |
|
Frontal bossing, Cloverleaf skull, Hydrocephalus, Chiari malformation, Acrobrachycephaly, Brachyt... |
ORPHA:87 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... |
ORPHA:1908 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short attention span, Hydrocephalus, Clumsiness |
OMIM:300558 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Spasticity, Agenesis of corpus callosum |
OMIM:307000 |
Ritscher-Schinzel Syndrome 1 |
|
Prominent occiput, Hydrocephalus, Brachycephaly, Dandy-Walker malformation |
OMIM:220210 |
Gray Platelet Syndrome |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus |
OMIM:620157 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
B4Galt1-Cdg |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:79332 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Dolichocephaly |
OMIM:310400 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walk... |
OMIM:611134 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Lateral ventricle dilatation, Dystonia, Periventricular heterotopia |
OMIM:614105 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Acrania, Dysplastic corpus callosum, Cryptorchidism, Gray matter heterotopia, Colpo... |
OMIM:618820 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Agenesis of... |
ORPHA:1812 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Increased bone mineral density |
ORPHA:36913 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Frontal bossing, Hydrocephalus |
ORPHA:2181 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea,... |
ORPHA:25 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Dysplastic corpus callosum, Gray matter heterotopia, Agenes... |
ORPHA:314679 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Cloverleaf skull, Hydrocephalus, Gray matter heterotopia, Ventriculomegaly |
ORPHA:1860 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Turricephaly, Ataxia, Noncommunicating hydrocephalus, Clumsiness, Attention deficit hyperactivity... |
OMIM:619320 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Joubert Syndrome 14 |
|
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus... |
OMIM:614424 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Cognitive impairm... |
OMIM:146500 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Hypoplasia of the pons, Simplified gyral pattern, Macrogyria, Plagiocep... |
OMIM:300749 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Amelocerebrohypohidrotic Syndrome |
|
Mental deterioration, Spasticity, Dementia, Hydrocephalus |
ORPHA:1946 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Frontal bossing, Hydrocephalus, Brachycephaly, Agenesis of corpus callosum, Midface retrusion, Da... |
OMIM:612582 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Spastic dysarthri... |
ORPHA:447753 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly |
OMIM:109120 |
Fg Syndrome Type 1 |
|
Craniosynostosis, Abnormal cerebellum morphology, Hydrocephalus, Cryptorchidism, Prominent occipu... |
ORPHA:93932 |
Temple Syndrome |
|
Frontal bossing, Hydrocephalus, Cryptorchidism |
ORPHA:254516 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Pancreatic steatosis,... |
OMIM:617052 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... |
ORPHA:289176 |
Apert Syndrome |
|
Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Hydrocephalus, Brachycephaly, Chiari... |
OMIM:101200 |
Gorlin Syndrome |
|
Frontal bossing, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Brachycephaly |
ORPHA:377 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Brachycephaly, Tetraplegia, Cerebellar hypoplasi... |
OMIM:257300 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Nephrocalcinosis, Hypern... |
ORPHA:90041 |
Holoprosencephaly |
|
Encephalocele, Frontal bossing, Flat occiput, Cryptorchidism, Chorea, Hydrocephalus, Abnormality ... |
ORPHA:2162 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
16P13.11 Microdeletion Syndrome |
|
Cryptorchidism, Abnormality of neuronal migration, Hypertonia, Holoprosencephaly, Agenesis of cor... |
ORPHA:261236 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa... |
ORPHA:33364 |
Radio-Tartaglia Syndrome |
|
Frontal bossing, Ataxia, Tremor, Gray matter heterotopia, Attention deficit hyperactivity disorde... |
OMIM:619312 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Pontocereb... |
OMIM:606002 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Chiari malformation, Hypogonadism, Infertility, ... |
ORPHA:96170 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Chi... |
ORPHA:268810 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Frontal bossing, Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of the corpus call... |
OMIM:619512 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Spasticity |
OMIM:618590 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Flat occiput, Cloverleaf skull, Craniosynostosis, Hydrocephalus, Chiari malformation, Agenesis of... |
OMIM:123790 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Recurrent fractures, Enlarged tonsils, Proximal renal tubular acidosi... |
ORPHA:2785 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Joint hypermobility |
OMIM:617101 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Increased CSF lactate, Hyperki... |
OMIM:616271 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hypertonia, Ataxia |
ORPHA:2720 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Iniencephaly |
|
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Hydrocephalus,... |
ORPHA:63259 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Spasticity, Flat occiput, Brachycephaly |
OMIM:618797 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Muenke Syndrome |
|
Plagiocephaly, Hydrocephalus, Coronal craniosynostosis, Brachycephaly |
ORPHA:53271 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Frontal bossing, Periventricular heterotopia, Cryptorchidism, Interhypothalamic adhesion, Attenti... |
OMIM:618929 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly |
OMIM:217090 |
Temple Syndrome |
|
Frontal bossing, Hydrocephalus, Decreased testicular size, Cryptorchidism |
OMIM:616222 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Frontal bossing, Periventricular heterotopia, Attention deficit hyperactivity disorder, Midface r... |
OMIM:618870 |
Glutaric Acidemia I |
|
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... |
OMIM:231670 |
Optic Pathway Glioma |
|
Fatigable weakness, Hydrocephalus |
ORPHA:2086 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Hydrocephalus, Meningocele, Chiari type I malformation, Dolichocephaly, Platybasi... |
OMIM:130720 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker m... |
OMIM:613001 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Cloverleaf skull, Hydrocephalus, Chiari malformation |
ORPHA:93259 |
Bresek Syndrome |
|
Plagiocephaly, Cryptorchidism, Hydrocephalus, Decreased testicular size |
ORPHA:85284 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Impoten... |
OMIM:105210 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:300514 |
Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Hydrocephalus |
OMIM:617244 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
Orofaciodigital Syndrome Xvi |
|
Oculomotor apraxia, Gray matter heterotopia, Ataxia, Ventriculomegaly |
OMIM:617563 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism, Periventricular heterotopia |
OMIM:300624 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Occipital meningocele, Polymicrogyria, ... |
OMIM:616546 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Dilated third ventricle, Partial agenesis of the corp... |
OMIM:304050 |
Orofaciodigital Syndrome I |
|
Frontal bossing, Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterot... |
OMIM:311200 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... |
ORPHA:94089 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... |
OMIM:259900 |
Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of th... |
OMIM:620305 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Frontal bossing, Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished ab... |
OMIM:612863 |
Crouzon Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost... |
OMIM:123500 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Enlarged cerebellum, Simplified gyral pattern, Ataxia |
OMIM:620047 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Japanese Encephalitis |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Paralysis, Paucity of anterior horn mot... |
ORPHA:79139 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Dementia, Cognitiv... |
ORPHA:683 |
Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheu... |
ORPHA:99867 |
Cole-Carpenter Syndrome 2 |
|
Frontal bossing, Turricephaly, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostos... |
OMIM:616294 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, ... |
ORPHA:667 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Hypospadias, Camptodactyly of finger, Tarsal synostosis, Hydronep... |
ORPHA:90652 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Frontal bossing, Hydrocephalus, Coronal craniosynostosis, Midface re... |
OMIM:112240 |
Tetrasomy 5P |
|
Hydrocephalus, Cerebellar hypoplasia, Midface retrusion |
ORPHA:3309 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Ventriculomegaly, Cerebellar vermis hypoplasia, Proboscis, Cranio... |
OMIM:605627 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Increased bone mineral density, Hypospadias, Epispadias, Cranial hyper... |
ORPHA:2658 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Opitz-Kaveggia Syndrome |
|
Frontal bossing, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Plagioce... |
OMIM:305450 |
Ritscher-Schinzel Syndrome 3 |
|
Cryptorchidism, Periventricular nodular heterotopia, Cerebellar vermis hypoplasia |
OMIM:619135 |
L1 Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Spasticity, Hydrocephalus |
ORPHA:275543 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Brachycephaly, Plagiocephaly, Hypogonadism, Attention deficit hype... |
ORPHA:500055 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Myoclonus, Right hemiplegia |
OMIM:607426 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Marshall-Smith Syndrome |
|
Frontal bossing, Craniosynostosis, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Macro... |
OMIM:602535 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Emanuel Syndrome |
|
Torticollis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:609029 |
1Q44 Microdeletion Syndrome |
|
Frontal bossing, Hydrocephalus, Biparietal narrowing, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Rabin-Pappas Syndrome |
|
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Cerebellar hypoplasia |
OMIM:620155 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
7Q11.23 Microduplication Syndrome |
|
Craniosynostosis, Cryptorchidism, Hydrocephalus, Brachycephaly, Simplified gyral pattern, Dysmetr... |
ORPHA:96121 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2701 |
Alg11-Cdg |
|
Ataxia, Opisthotonus, Gray matter heterotopia, Hypertonia, Limb hypertonia |
ORPHA:280071 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia |
ORPHA:3000 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Craniosynostosis, Cryptorchidism |
ORPHA:531151 |
Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Ventriculomegaly, Prominent occiput, Plagiocephaly, Biparietal narrowing, Aplasi... |
ORPHA:2612 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Tremor, Abnormal pyra... |
ORPHA:240071 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Platybasia, Frontal bossing, Hydrocephalus, Chiari malformation |
OMIM:618162 |
Cerebral Visual Impairment |
|
Short attention span, Cerebral palsy, Hydrocephalus, Clumsiness, Attention deficit hyperactivity ... |
ORPHA:447788 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Flat occiput, Gray matter heterotopia, Polymicrogyria, Dolichocephaly |
OMIM:614887 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Hydrocephalus, Abnormal sperm motility, Ventriculomegaly |
ORPHA:244 |
Alexander Disease |
|
Frontal bossing, Ataxia, Clonus, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyr... |
ORPHA:58 |
Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Short attention span, Tremor, Rigidity, Frontal lobe dementia, Bradyki... |
ORPHA:2828 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia, Frontal bossing, Midface retrusion |
OMIM:608624 |
Hydrocephalus, Normal-Pressure, 1 |
|
Dementia, Normal pressure hydrocephalus |
OMIM:236690 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
Aicardi Syndrome |
|
Hemiplegia/hemiparesis, Partial agenesis of the corpus callosum, Plagiocephaly, Hypertonia, Aplas... |
ORPHA:50 |
Monosomy 18Q |
|
Bilateral cryptorchidism, Hydrocephalus, Poor coordination, Choreoathetosis, Cerebellar hypoplasi... |
ORPHA:1600 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Frontal bossing, Craniosynostosis, Cryptorchidism, Hydrocephalus, Chiari type I malformation, Dol... |
OMIM:182212 |
Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Arthrogryposis multipl... |
OMIM:259775 |
Bohring-Opitz Syndrome |
|
Trigonocephaly, Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:605039 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Frontal bossing, Hydrocephalus, Agenesis of corpus callosum, Midface retrusion |
OMIM:612940 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Chiari type II malformation, Spina bifida occulta, Myelomeningocele, Hydrocephalus |
OMIM:613686 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hemiparesis, Hydrocephalus |
ORPHA:398189 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Turricephaly, Cloverleaf skull, Craniosynostosis, Cryptorchidism, Hydrocephalus, Dolichocephaly, ... |
ORPHA:1555 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... |
ORPHA:124 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ventriculomegaly, Ataxia, Hydrocephalus, Hemiparesis, Cognitive impairment... |
ORPHA:395 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos... |
ORPHA:416 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, C... |
ORPHA:90065 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Hydrocephalus, Chiari type I malformation, Lateral ventricle dilatation, At... |
OMIM:619575 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Periventricular heterotopia, Cryptorchidism, Colpocephaly, Biparietal narrowing,... |
ORPHA:261250 |
Alpha-Mannosidosis, Infantile Form |
|
Cerebellar atrophy, Short attention span, Communicating hydrocephalus, Ataxia, Confusion, Cranios... |
ORPHA:309282 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Lead Poisoning |
|
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Chronic kidney disease, Abnormal T cell mo... |
ORPHA:330015 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Increased CSF alanine concentration, Tremor, Increased CSF citrulline concentration, Cere... |
ORPHA:3008 |
Lowry-Maclean Syndrome |
|
Craniosynostosis, Bilateral cryptorchidism, Hydrocephalus, Hemiparesis, Trigonocephaly |
ORPHA:2409 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc... |
ORPHA:91348 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Hydronephrosis, A... |
ORPHA:847 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Hydrocephalus, Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynosto... |
OMIM:207410 |
Chromosome 17P13.1 Deletion Syndrome |
|
Turricephaly, Spina bifida, Hydrocephalus, Brachycephaly, Plagiocephaly, Ankle clonus, Hydrocele ... |
OMIM:613776 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Plagiocephaly, Athetosis, Hydrocephalus, Midface retrusion |
OMIM:239300 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Ventriculomegaly |
OMIM:608836 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical gyration, Progress... |
OMIM:210710 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Cryptorchidis... |
OMIM:615948 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Athetosis, Hyperkinetic mov... |
OMIM:615356 |
Tick-Borne Encephalitis |
|
Speech apraxia, Abnormal medulla oblongata morphology, Incoordination, Paralysis, Tremor, CSF ple... |
ORPHA:297 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Olivopontocerebellar hypoplasia, Hydrocephalus, Plagiocephaly, Agenesis of corpus callosum, Ventr... |
ORPHA:457284 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Scaphocephaly, Cranial asymmetry |
OMIM:614886 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
Distal Triplication 15Q |
|
Hydrocele testis, Craniosynostosis, Hydrocephalus, Dandy-Walker malformation |
ORPHA:314588 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Stromme Syndrome |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:243605 |
Griscelli Syndrome |
|
Encephalocele, Spasticity, Ataxia, Hydrocephalus |
ORPHA:381 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Hydrocephalus |
OMIM:300863 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Chiari malformation, Attention deficit hyperactivity disorder |
ORPHA:3205 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Miller-Dieker Lissencephaly Syndrome |
|
Frontal bossing, Cryptorchidism, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Prog... |
OMIM:247200 |
Hydrolethalus |
|
Anencephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2189 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Aymé-Gripp Syndrome |
|
Craniosynostosis, Cryptorchidism, Hydrocephalus, Brachycephaly, Chiari type I malformation, Plagi... |
ORPHA:1272 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr... |
OMIM:243910 |
15Q Overgrowth Syndrome |
|
Turricephaly, Craniosynostosis, Hydrocephalus, Dolichocephaly, Agenesis of corpus callosum, Dandy... |
ORPHA:314585 |
Baller-Gerold Syndrome |
|
Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Hydrocephalus, Oxycephaly, Spina bifid... |
OMIM:218600 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Cryptorchidism, Subependymal cysts, Gray matter heterotopia, Brachyturricephaly, Fr... |
OMIM:214100 |
Meningioma |
|
Hemifacial spasm, Abnormal central motor function, Ataxia, Hypogonadotropic hypogonadism, Abnorma... |
ORPHA:2495 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis interna, Low... |
ORPHA:79443 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Dolichocephaly, Ventriculom... |
OMIM:617866 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Cerebral amyloid angiopathy, Dementia, Hy... |
OMIM:176500 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Craniosynostosis, Cerebellar dysplasia |
OMIM:601374 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Craniosynostosis, Cryptorchidism, Chiari malformati... |
ORPHA:2462 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Frontal bossing, Turricephaly, Hydrocephalus, Plagiocephaly, Hydrocele testis, Ventriculomegaly |
OMIM:613603 |
Holoprosencephaly 7 |
|
Frontal bossing, Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum,... |
OMIM:610828 |
Monosomy 9Q22.3 |
|
Trigonocephaly, Hydrocephalus, Chiari malformation, Ventriculomegaly |
ORPHA:77301 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micropenis, Patchy osteosclerosis |
OMIM:241410 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Speech apraxia, Cranial asymmetry, Unilateral cryptorchidism |
ORPHA:137634 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Frontal bossing, Communicating hydrocephalus, Gait ataxia, Ventriculomegaly |
OMIM:617011 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spasticity, Pa... |
ORPHA:1934 |
Methylcobalamin Deficiency Type Cble |
|
Lower limb hypertonia, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Triploidy |
|
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Congenital Sialidosis Type 2 |
|
Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Spasticity |
ORPHA:93400 |
Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density, Low urinary cyclic AMP response to PTH admi... |
ORPHA:79444 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Thin calvarium, Spina bifida occulta |
ORPHA:2437 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Hydrocephalus, Irregular menstruation, Midface retrusion |
OMIM:616482 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Hemiparesis, Hypertonia, Calvarial skull defect |
ORPHA:974 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Hydrocephalus, Irregular menstruation, Brachycephaly, Hypogonadism, Calvarial hyp... |
OMIM:101800 |
Fontaine Progeroid Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Craniosynostosis, Periventricular heterotopia, Crypto... |
OMIM:612289 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Whipple Disease |
|
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Erectile dysfunction |
ORPHA:3452 |
Tenorio Syndrome |
|
Hydrocephalus, Cerebral palsy, Ventriculomegaly, Clumsiness |
OMIM:616260 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Confusion, Tremor, Hydrocephalus, Dementia, Abnormality of extrapyramidal motor function, Delirium |
OMIM:277400 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Full Nf2-Related Schwannomatosis |
|
Abnormal cerebellum morphology, Hydrocephalus, Myelopathy, Hemiparesis, Memory impairment |
ORPHA:637 |
Achondroplasia |
|
Frontal bossing, Hydrocephalus, Parietal bossing |
ORPHA:15 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Van Maldergem Syndrome 2 |
|
Cryptorchidism, Subcortical band heterotopia, Gray matter heterotopia, Periventricular nodular he... |
OMIM:615546 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Ataxia, Tremor, Cryptorchidism, Irregular menstruation, Dementia, Normal pres... |
OMIM:216400 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h... |
OMIM:301040 |
Basal Cell Nevus Syndrome 2 |
|
Frontal bossing, Hydrocephalus |
OMIM:620343 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Hypertonia, Ataxia |
ORPHA:31 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosu... |
OMIM:610829 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Vocal cord paresis, Ataxia, Progressive neurologic deterioration, Hydr... |
ORPHA:581 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Frontal bossing, Turricephaly, Craniosynostosis, Cryptorchidism, Hydrocephalus, Brachycephaly, De... |
ORPHA:95699 |
Congenital Myopathy 22A, Classic |
|
Frontal bossing, Frequent falls, Scaphocephaly, Normal pressure hydrocephalus |
OMIM:620351 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Hydrocephalus, Bicoronal synostosis |
OMIM:619951 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia |
ORPHA:2166 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Patchy osteosclerosis |
ORPHA:2323 |
Desmosterolosis |
|
Frontal bossing, Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity, Ventriculome... |
OMIM:602398 |
Hurler Syndrome |
|
Frontal bossing, Progressive neurologic deterioration, Hydrocephalus, Cranial hyperostosis, Calva... |
OMIM:607014 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Midface retrusion |
OMIM:224400 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Agenesi... |
ORPHA:250989 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Turricephaly, Midface retrusion |
ORPHA:2050 |
Wiedemann-Rautenstrauch Syndrome |
|
Frontal bossing, Ataxia, Confusion, Hypogonadotropic hypogonadism, Action tremor, Tremor, Cryptor... |
ORPHA:3455 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Intention tremor, Ataxia, Cognitive impairment, Torticollis, Isometric tremor... |
OMIM:619475 |
Trisomy 17P |
|
Hydrocephalus, Hypertonia |
ORPHA:261290 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Periventricular heterotopia, Bilateral cryptorchidism, Partial agenesis... |
ORPHA:434179 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Marden-Walker Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Agenesis of corpu... |
ORPHA:2461 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Fatigable weakness of neck muscles |
ORPHA:26791 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... |
OMIM:105650 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Cerebellar vermis hypoplasia, Cryptorchidism, Poor ... |
OMIM:619841 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Increased density of long bones, Hypospadias, Hydroureter, Splenopancreatic fu... |
OMIM:269150 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Broad skull, Hydrocephalus, Cerebellar hypoplasia, Cryptorchidism |
ORPHA:163979 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Periventricular heterotopia, Cryptorchidism, Partial agenesis of the corpus c... |
OMIM:270400 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Cardiomegaly, Nephrocalcinosis, Vesicoureteral reflux, Pelvic ki... |
ORPHA:904 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus, Scaphocephaly, Craniosynostosis |
OMIM:616914 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Midface retrusion, Dandy-Walker malformation, Limb hypertonia |
ORPHA:401973 |
Hurler Syndrome |
|
Frontal bossing, Cerebral palsy, Dolichocephaly, Hydrocephalus, Abnormal pyramidal sign, Spastic ... |
ORPHA:93473 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypertonia, Midface retrusion, Dandy-Walker malformation |
OMIM:300960 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Dolichocephaly |
ORPHA:2969 |
Histiocytoid Cardiomyopathy |
|
Hemiplegia, Cerebellar malformation, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:137675 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Cerebellar hypoplasia, Attention deficit hyperactivity disorder |
OMIM:614083 |
Mucopolysaccharidosis, Type Ii |
|
Hydrocephalus, Scaphocephaly, Dolichocephaly |
OMIM:309900 |
Vici Syndrome |
|
Gray matter heterotopia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:242840 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Paraplegia, Decreased testicular size |
OMIM:617053 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Craniosynostosis |
ORPHA:1064 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Ataxia |
ORPHA:1861 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Frontal bossing, Craniosynostosis, Hydrocephalus, Brachycephaly, Midface retrusion |
OMIM:245600 |
Yunis-Varon Syndrome |
|
Abnormal occipital bone morphology, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, C... |
ORPHA:3472 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Craniosynostosis, Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalu... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Craniosynostosis, Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalu... |
ORPHA:363958 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Craniopharyngioma |
|
Hypogonadotropic hypogonadism, Hydrocephalus, Abnormal hypothalamus morphology, Hypogonadism, Abn... |
ORPHA:54595 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cryptorchidism, Ventriculomegaly, Abnormality of neuronal migration, Attention deficit hyperactiv... |
ORPHA:464311 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Spasticity, Ataxia, Confusion |
ORPHA:220295 |
Multiple Sulfatase Deficiency |
|
Rapid neurologic deterioration, Hydrocephalus |
ORPHA:585 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Hydrocephalu... |
OMIM:249000 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Gray matter heterotopia, Craniosynostosis, Cryptorchidism |
ORPHA:453499 |
Craniosynostosis And Dental Anomalies |
|
Frontal bossing, Turricephaly, Flat occiput, Sagittal craniosynostosis, Scaphocephaly, Oxycephaly... |
OMIM:614188 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia, Ventriculomegaly, Cryptorchidism |
OMIM:610443 |
Jacobsen Syndrome |
|
Flat occiput, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Trigonocephaly, Spasticity |
OMIM:147791 |
Cardiofaciocutaneous Syndrome 1 |
|
Oculomotor apraxia, Hydrocephalus, Hypertonia, Dolichocephaly |
OMIM:115150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Tremor, Partial agenesis of the corpus callosum, ... |
OMIM:220111 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus |
ORPHA:1865 |
Achondroplasia |
|
Frontal bossing, Hydrocephalus, Midface retrusion |
OMIM:100800 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Prominent occiput, Chiari malformation, Dolichocephaly, Platybasia |
ORPHA:955 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Frontal bossing, Torticollis, Craniosynostosis, Hydrocephalus, Plagiocephaly, Midface retrusion |
ORPHA:536467 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus |
OMIM:601499 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Agenesis ... |
OMIM:236680 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Dystonia, Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Limb dysto... |
OMIM:175780 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus |
ORPHA:1834 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Hydrocephalus, Poor fine motor coordination, Dementia, Mental deterioration, Memory impai... |
ORPHA:79282 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Cardiofaciocutaneous Syndrome |
|
Frontal bossing, Hydrocephalus, Biparietal narrowing, Cryptorchidism |
ORPHA:1340 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Midface retrusion |
OMIM:154400 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Midface retrusion |
OMIM:616007 |
Mucopolysaccharidosis Type 1 |
|
Hemiplegia/hemiparesis, Hydrocephalus, Dolichocephaly |
ORPHA:579 |
Coccidioidomycosis |
|
Broad skull, Hydrocephalus, CSF pleocytosis, CSF lymphocytic pleiocytosis, Cognitive impairment, ... |
ORPHA:228123 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Meningocele, Abnormality of neuronal migration, Abnormal testis morp... |
ORPHA:991 |
Wiedemann-Rautenstrauch Syndrome |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Brachycephaly, Chiari malformation, Hypertonia, T... |
OMIM:264090 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2075 |
Tetrasomy 9P |
|
Cryptorchidism, Hydrocephalus, Oligozoospermia, Lissencephaly, Infertility, Pachygyria, Polymicro... |
ORPHA:3310 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus, Hypoplasia of the ovary, Decreased testicular size, Cerebellar cortical atrophy |
OMIM:619321 |
Cockayne Syndrome B |
|
Ataxia, Cerebellar calcifications, Tremor, Cryptorchidism, Normal pressure hydrocephalus, Thicken... |
OMIM:133540 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Me... |
OMIM:615530 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Male infertility |
OMIM:244400 |
Alobar Holoprosencephaly |
|
Abnormal central motor function, Proboscis, Hydrocephalus, Oromotor apraxia, Neural tube defect, ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Proboscis, Hydrocephalus, Oromotor apraxia, Neural tube defect, ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal central motor function, Proboscis, Hydrocephalus, Oromotor apraxia, Neural tube defect, ... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Abnormal central motor function, Proboscis, Hydrocephalus, Oromotor apraxia, Neural tube defect, ... |
ORPHA:220386 |
H Syndrome |
|
Hydrocephalus, Azoospermia, Hypogonadism, Decreased testicular size, Amenorrhea |
ORPHA:168569 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618733 |
Dubowitz Syndrome |
|
Craniosynostosis, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Spina ... |
ORPHA:235 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Attention deficit h... |
OMIM:618918 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Frontal bossing, Brachycephaly, Ventriculomegaly |
OMIM:618188 |
Trisomy 8P |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:264450 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Paralysis, Hydrocephalus, Spastic paraplegia, Brachycephaly, Limb ataxia, Azoospermia, Hypertonia... |
ORPHA:2072 |
Osteopathia Striata With Cranial Sclerosis |
|
Frontal bossing, Partial agenesis of the corpus callosum, Hydrocephalus, Spina bifida occulta, Th... |
OMIM:300373 |
Knobloch Syndrome |
|
Calvarial skull defect, Occipital encephalocele, Hydrocephalus, Midface retrusion |
ORPHA:1571 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity di... |
OMIM:227646 |
Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Nijmegen Breakage Syndrome |
|
Mental deterioration, Abnormality of neuronal migration, Attention deficit hyperactivity disorder |
ORPHA:647 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Craniosynostosis, Sagittal craniosynostosis, Cryptorchidism, Gray matter heterotopia, Lambdoidal ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Craniosynostosis, Sagittal craniosynostosis, Cryptorchidism, Gray matter heterotopia, Lambdoidal ... |
ORPHA:352665 |
Pseudoaminopterin Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Cryptorchidism, Hydrocephalus, Fatigable weakness, Do... |
ORPHA:221120 |
Cousin Syndrome |
|
Hydranencephaly, Frontal bossing, Hydrocephalus |
OMIM:260660 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Fanconi Anemia |
|
Frontal bossing, Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Decreased fertility in... |
ORPHA:84 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Gait ataxia |
ORPHA:457359 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Basal Cell Nevus Syndrome 1 |
|
Frontal bossing, Hydrocephalus, Parietal bossing, Spina bifida |
OMIM:109400 |
Coffin-Siris Syndrome 12 |
|
Frontal bossing, Cryptorchidism, Noncommunicating hydrocephalus, Chiari malformation, Dolichoceph... |
OMIM:619325 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Cranial asymmetry |
OMIM:609128 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus, Chiari malformation, Craniosynostosis |
OMIM:609192 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
Cryptococcosis |
|
Mental deterioration, Memory impairment, Hydrocephalus, Prostatitis |
ORPHA:1546 |
Meckel Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ... |
ORPHA:564 |
Costello Syndrome |
|
Chiari type I malformation, Hydrocephalus, Enlarged cerebellum, Ventriculomegaly |
OMIM:218040 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal cortical gyration, Cryptorchidism, Myelomeningocele, Hydrocephalus, Calva... |
OMIM:219000 |
Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus |
OMIM:253220 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Brachycephaly, Lateral ventricle dilatation, Midf... |
OMIM:607872 |
Split Cord Malformation |
|
Paraparesis, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meningocele, Cervical spina b... |
ORPHA:573278 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Oeis Complex |
|
Cryptorchidism, Myelomeningocele, Chiari malformation, Hydrocephalus |
OMIM:258040 |
Distal 22Q11.2 Microduplication Syndrome |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Biparietal narrowing, Attention deficit hyperacti... |
ORPHA:261337 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Ataxia, Spastic paraplegia, Hypertonia, Hypoglycorrhachia |
ORPHA:168577 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia |
OMIM:306955 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Chordee, Agenesis of corpus callosum, Hydrocephalus |
OMIM:309801 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus, Dolichocephaly |
OMIM:253200 |
22Q11.2 Deletion Syndrome |
|
Turricephaly, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Multiple suture craniosyn... |
ORPHA:567 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia |
OMIM:208150 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Plagiocephaly, Hypogonadism, Midface retrusion |
ORPHA:3042 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
Osteogenesis Imperfecta |
|
Ataxia, Hydrocephalus, Brachycephaly, Noncommunicating hydrocephalus, Prominent occiput, Tetrapar... |
ORPHA:666 |
Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Ataxia |
OMIM:616084 |
Focal Dermal Hypoplasia |
|
Cryptorchidism, Hydrocephalus, Myelomeningocele, Chiari malformation, Spina bifida occulta, Agene... |
OMIM:305600 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus |
ORPHA:505248 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Cryptor... |
ORPHA:261537 |
Campomelic Dysplasia |
|
Frontal bossing, Spina bifida, Hydrocephalus, Spinal dysraphism, Midface retrusion |
OMIM:114290 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Abnormal testis morphology, Agenesis of corpus callosum, Midface retrusion |
ORPHA:2556 |
Kabuki Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:2322 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Neurofibromatosis Type 1 |
|
Ataxia, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Memory impairment |
ORPHA:636 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Hydrocephalus, Cryptorchidism |
ORPHA:1106 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus, Chiari malformation, Craniosynostosis |
OMIM:610168 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Periventricular heterotopia,... |
ORPHA:2152 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:91350 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Frontal bossing, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular het... |
ORPHA:261552 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Cranial asymmetry |
OMIM:163200 |
Hajdu-Cheney Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:102500 |
Wolf-Hirschhorn Syndrome |
|
Cryptorchidism, Hydrocephalus, Craniofacial asymmetry, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:194190 |
Lymphangioleiomyomatosis |
|
Hydrocephalus, Cognitive impairment |
ORPHA:538 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Cryptorchidism, Hydrocephalus, Trigonocephaly, Agenesis of corpus c... |
OMIM:312870 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Short attention span, Progressive neurologic deterioration, Cognitiv... |
ORPHA:580 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Peters Plus Syndrome |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Brachycephaly, Spina bifida occulta, Ventriculome... |
ORPHA:709 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
Proteus Syndrome |
|
Macroorchidism, Testicular neoplasm, Craniosynostosis, Gray matter heterotopia, Dolichocephaly, C... |
ORPHA:744 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Peters-Plus Syndrome |
|
Frontal bossing, Craniosynostosis, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ve... |
OMIM:261540 |
Genitopatellar Syndrome |
|
Periventricular heterotopia, Cryptorchidism, Colpocephaly, Pachygyria, Agenesis of corpus callosum |
OMIM:606170 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Lower limb dysmetria, Attention deficit hyperactivity disorder |
ORPHA:363700 |
Otopalatodigital Syndrome, Type Ii |
|
Frontal bossing, Spina bifida, Cryptorchidism, Hydrocephalus, Midface retrusion |
OMIM:304120 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Attention deficit hyperactivity disorder, Subependymal nodules |
ORPHA:805 |
Kabuki Syndrome 1 |
|
Cryptorchidism, Lateral ventricle dilatation, Hydrocephalus |
OMIM:147920 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontal bossing, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, Spasticity |
OMIM:619534 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction |
ORPHA:322 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum |
OMIM:164210 |
Roberts-Sc Phocomelia Syndrome |
|
Craniosynostosis, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Brachycephaly |
OMIM:268300 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
Townes-Brocks Syndrome 1 |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
|
OMIM:616094 |