Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dyspla... |
OMIM:604213 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus... |
OMIM:617542 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Ventriculomegaly, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Compulsi... |
ORPHA:500166 |
Lissencephaly 4 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep... |
OMIM:614019 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal corpus callosum morphology, Abnormal temper tantrums, Cerebellar atrophy, Lateral ventri... |
ORPHA:300573 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... |
OMIM:608716 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Unilateral polym... |
OMIM:610031 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary mic... |
ORPHA:171703 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Periventricular laminar heterotop... |
OMIM:611603 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... |
ORPHA:101029 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Cortical dysplasia,... |
OMIM:614039 |
Band Heterotopia |
|
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... |
OMIM:600348 |
Schizencephaly |
|
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum |
OMIM:269160 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Dysphagia, Pachygyria, Thin corpus callosum, Motor stereoty... |
ORPHA:572013 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly, Cerebellar atrophy, Hypoplasia of the pons |
OMIM:618276 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly... |
ORPHA:300570 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... |
OMIM:600638 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse... |
OMIM:300067 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... |
OMIM:620317 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplasia... |
OMIM:618325 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia, Hyd... |
OMIM:619301 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hypoplasia of the pons, Type II lissencephaly, Cerebellar dysplasia, Cerebellar... |
OMIM:613153 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Partial agen... |
OMIM:619302 |
Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, ... |
ORPHA:171680 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Ventriculomegaly, Probst bundles, Agenesis of corpus callosum, Aggressive behavior, Attention def... |
OMIM:618286 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Dilated four... |
OMIM:615771 |
Ventriculomegaly And Arthrogryposis |
|
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:619501 |
Isolated Corpus Callosum Agenesis |
|
Dysphagia, Agenesis of corpus callosum |
ORPHA:200 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy, Hyperactivity |
ORPHA:599373 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:250972 |
Pontocerebellar Hypoplasia, Type 1A |
|
Cerebral cortical atrophy, Neuronal loss in basal ganglia, Lateral ventricle dilatation, Hypoplas... |
OMIM:607596 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Cerebral atrophy, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpus... |
OMIM:618492 |
Congenital Hydrocephalus |
|
Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Colpocephaly, Hydrocephalus,... |
ORPHA:2185 |
Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... |
ORPHA:1528 |
Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Ventriculomegaly, Oral-pharyngeal dysph... |
ORPHA:2524 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Inferior cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Cereb... |
OMIM:304100 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Colpocephaly, Neonatal death |
OMIM:614870 |
Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Death in infancy, Cerebellar... |
OMIM:618266 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypo... |
OMIM:617090 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Inappropriate behavior, Basa... |
OMIM:221770 |
Glycine Encephalopathy 1 |
|
Death in infancy, Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Restlessness, ... |
OMIM:605899 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Periventricular cysts, A... |
ORPHA:255182 |
Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... |
OMIM:218670 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Cerebellar atrophy, Hypoplasia of t... |
ORPHA:488635 |
Masa Syndrome |
|
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:303350 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Lateral ventricle dilatation, Death in childhood, Abnormal dentate nucleus morpholo... |
OMIM:619517 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Weiss-Kruszka Syndrome |
|
Dysplastic corpus callosum |
ORPHA:502430 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Microcephaly, Cerebellar atrophy, Cerebral dysmyelination |
OMIM:252650 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Microcephaly, ... |
ORPHA:77299 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Death in infancy,... |
OMIM:617668 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Leukoencephalopathy, Cerebellar atrophy, Lateral ventricle dilatation, Periventricular leukomalac... |
OMIM:615889 |
Central Neurocytoma |
|
Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Death in childhood, Hypoplasia of the cor... |
OMIM:616034 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Cerebellar hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Neonatal death, Agenesis of corpus callosum, Microcephaly, Cerebellar hypoplasi... |
OMIM:616342 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Micr... |
OMIM:614833 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Abnormal p... |
OMIM:616900 |
Unilateral Hemispheric Polymicrogyria |
|
Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation |
ORPHA:101071 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
Joubert Syndrome 30 |
|
Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Gray matter he... |
OMIM:617622 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... |
OMIM:620156 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Agenesis of corpus ca... |
OMIM:615095 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Microcephaly, Dysphagia, Simplified gyr... |
OMIM:620001 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Hydrocep... |
OMIM:207950 |
Microhydranencephaly |
|
Hydranencephaly, Ventriculomegaly, Self-mutilation, Agenesis of corpus callosum, Cerebellar hypop... |
OMIM:605013 |
Autosomal Recessive Primary Microcephaly |
|
Ventriculomegaly, Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Micro... |
ORPHA:2512 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Microcephaly, ... |
OMIM:618736 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Agenesis of corpus callosum |
ORPHA:459074 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... |
OMIM:617751 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ventriculomegaly, Corticospinal tract hypoplasia, Periventricular cysts, Periventricular heteroto... |
ORPHA:255138 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... |
ORPHA:79243 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation,... |
OMIM:620315 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Abnormal periventricula... |
OMIM:613443 |
Hydrocephalus, Congenital, X-Linked |
|
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha... |
OMIM:307000 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the ... |
ORPHA:370959 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spin... |
OMIM:616602 |
Subependymal Nodular Heterotopia |
|
Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Nasofrontal ... |
ORPHA:101030 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephalocele, Gray matte... |
OMIM:164180 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Basal ganglia calcification, Cerebral calcificati... |
OMIM:617281 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... |
ORPHA:488627 |
Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Cerebellar vermis hypoplasia, Secondary microcephaly, Cerebellar malformation, Dilated fourth ven... |
ORPHA:357058 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Chiari type I m... |
OMIM:218350 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
Alg2-Cdg |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... |
ORPHA:79326 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Microcephaly, Aggressive behavior, Overfriendliness |
OMIM:618010 |
Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Microcepha... |
OMIM:614219 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Gray ma... |
OMIM:615219 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Secondary microcephaly, Periventricular nodular heterotopia, Dysplastic corpus callosum, Perivent... |
OMIM:619737 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr... |
ORPHA:2182 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Cerebellar atrophy, Focal polymicrogyria, Frequent temper tantrums, Dysplastic corp... |
OMIM:619103 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Ce... |
ORPHA:284417 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cerebellar hypoplasia, Microcephaly, Colpocephaly, Polymicrogyria |
OMIM:618731 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypopl... |
OMIM:225790 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar vermis hypoplasia, Lateral ventricle dila... |
OMIM:618291 |
Holoprosencephaly 11 |
|
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:614226 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Death in infancy, Agenesis of corpus callosum, Mi... |
ORPHA:99742 |
Cach Syndrome |
|
Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Cerebellar vermis atrophy, Dy... |
ORPHA:135 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Martsolf Syndrome 2 |
|
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:619420 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hypoplasia of the pons, ... |
OMIM:613154 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation |
OMIM:619972 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the pons, Agenesis of corpus callosum,... |
OMIM:617669 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Self-injurious behavior, Ventriculomegaly, Periventricular heterotopia, Periventricular leukomala... |
OMIM:619833 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Progress... |
OMIM:615249 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo... |
OMIM:608629 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Stereotypical hand wringing, Dysplastic corp... |
OMIM:619179 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Partial agenesis of the corpus callosum,... |
OMIM:614643 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Secondary microcephaly, Abnormal caudate nucleus morphology, Hypopl... |
ORPHA:2148 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Cerebellar hypoplasia, Neonatal death |
OMIM:618810 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Diffuse white matter abnormalities, Lateral ventricle dilatation, Oral-p... |
ORPHA:208447 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplastic anterior commissure, Hypoplasia of th... |
OMIM:616975 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... |
OMIM:619244 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly, Death in childhood |
OMIM:604273 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Ventriculomegaly, Type II lissencephaly, Cerebellar dysplasia, Encephalocele, Death in infancy, A... |
OMIM:613150 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Self-injurious behavior, Dilated third ventricle, Lateral ventricle dilatation, Periventricular c... |
ORPHA:544488 |
Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:848 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Neurofibrillary tangles, Lewy bodies, Di... |
OMIM:607485 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:618890 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Cerebral cortical hemiatrophy, Lateral ventricle dilatation |
ORPHA:306669 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Secondary microcephaly, Dysplastic corpus callosum, Death in childhood, Death in infancy |
OMIM:619423 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Bruxism |
OMIM:615716 |
Developmental And Epileptic Encephalopathy 31B |
|
Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Agenesis of corpu... |
OMIM:620352 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Abnormal cer... |
ORPHA:565624 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation, Secondary microcephaly, Pontocerebellar atrophy, Attention deficit ... |
OMIM:617854 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar... |
OMIM:617914 |
Halperin-Birk Syndrome |
|
Ventriculomegaly, Semilobar holoprosencephaly, Pseudobulbar paralysis, Death in childhood, Agenes... |
OMIM:618651 |
Cerebrofacioarticular Syndrome |
|
Self-injurious behavior, Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the corpus... |
ORPHA:314679 |
Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Cerebral calcification, Cerebella... |
OMIM:617397 |
Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Hypoplasia of... |
OMIM:618606 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Neonatal death |
OMIM:610015 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation, Patent ductus arteriosus |
OMIM:618330 |
Kapur-Toriello Syndrome |
|
Pachygyria, Dysplastic corpus callosum, Patent ductus arteriosus, Polymicrogyria |
ORPHA:2328 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Self-injurious behavior, Reduced cerebral white matter volume, Lateral ventricle dilatation, Pari... |
OMIM:620075 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum |
ORPHA:1496 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated thir... |
ORPHA:397715 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Cerebellar atrophy, Periventricular heterotopia, Abse... |
OMIM:619895 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis |
ORPHA:621 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus |
OMIM:602200 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Broad-based gait, Decreased mean corpuscular volume |
OMIM:616943 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Chiari malformation, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis o... |
OMIM:618820 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Leukoencephalopathy, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ... |
ORPHA:572798 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Periventricular heterotopia, Hypoplasia of the corpus callosum, Mic... |
OMIM:614105 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus call... |
ORPHA:356961 |
Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:618619 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Aggress... |
OMIM:618914 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Truncal ataxia, Broad-based gait, Limb ataxia, Persistence of hemoglobin F |
OMIM:617101 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Agenesis of cerebellar vermis, ... |
OMIM:615287 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
Fanconi Anemia, Complementation Group I |
|
Chiari malformation, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpoce... |
OMIM:609053 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Abnormal pyramidal tract morphology, Lateral ventricle dilatation |
OMIM:256850 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities |
OMIM:600721 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Lateral ventricle dilatation, Dilated fourth ventricle, Cerebellar hypoplasia, Microcephaly, Dand... |
ORPHA:3078 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Cerebral atrophy, Death in childhood, Microcephaly, Primary microce... |
OMIM:619847 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary microcephaly, Enlarged c... |
ORPHA:261552 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Lateral ventricle dilatation, Probst bundles, Agenesis of corpus callosum, Hydrocephalus, Patent ... |
OMIM:612863 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Microcephaly, Head-banging, Hypoplasia of the corpus callosum |
OMIM:618569 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpoceph... |
OMIM:620113 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Reduced cerebral white matter volume, Dilated third ventricle, Lateral ventricle... |
OMIM:620371 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly, Patent ductus arteriosus |
ORPHA:363444 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c... |
OMIM:614924 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Malan Overgrowth Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
ORPHA:420179 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Dilated third ventricle, Head-banging, Lateral ventricle dilatation, Fre... |
OMIM:619575 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substanti... |
ORPHA:2822 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Periventricular heterotopia, Hypoplasia of the corpus callosum, Colpocephaly, D... |
ORPHA:261250 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Microcephaly, Lateral ventricle dilatation |
OMIM:619278 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Dilated third ventricle, Chiari malformation, Lateral ventricle dil... |
OMIM:304050 |
X-Linked Intellectual Disability, Wilson Type |
|
Microcephaly, Lateral ventricle dilatation |
ORPHA:85290 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, C... |
OMIM:617260 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, C... |
OMIM:617296 |
Distal Deletion 10Q |
|
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Micro... |
ORPHA:96148 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal corpus callosum morphology, Abnormal temper tantrums, Lateral ventricle dilatation, Aggr... |
ORPHA:457279 |
Glutaric Acidemia I |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
Isolated Exencephaly |
|
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum |
ORPHA:563612 |
Cog5-Cdg |
|
Cerebellar atrophy, Lateral ventricle dilatation, Diffuse cerebral atrophy, Cerebral white matter... |
ORPHA:263487 |
Holoprosencephaly 13, X-Linked |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,... |
OMIM:301043 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Polymicrogyria, Cerebellar vermis atrophy, Death in infancy, Agenesis of corp... |
OMIM:614866 |
Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
6Q Terminal Deletion Syndrome |
|
Abnormal cerebral cortex morphology, Polymicrogyria, Periventricular heterotopia, Hypoplasia of t... |
ORPHA:75857 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Cerebral hypoplasia, Lateral ventricle ... |
OMIM:210710 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Dysplastic corpus callo... |
OMIM:151050 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Secondary microcephaly, Stereotypical hand wringi... |
OMIM:619229 |
Spondyloenchondrodysplasia |
|
Ventriculomegaly, Cerebral calcification, Abnormal periventricular white matter morphology, Abnor... |
ORPHA:1855 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy,... |
OMIM:611209 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Periventricular leukomalacia, Abnormal caudate nucleus morphology, ... |
ORPHA:293725 |
Bainbridge-Ropers Syndrome |
|
Self-injurious behavior, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Rec... |
OMIM:615485 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus |
OMIM:309801 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Lateral ventricle dilatation, Hydrocephalus, Death in childhood |
OMIM:612301 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca... |
ORPHA:1692 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus... |
ORPHA:464738 |
Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Patent ductus arteriosus after premature birth, M... |
OMIM:618460 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Weaver Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Absent septum pellucidum, Cerebellar hypoplasia, ... |
OMIM:277590 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the corpus callosum, Hypoplasia of... |
OMIM:270400 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly... |
OMIM:618367 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dysplastic corpus callosum, Aggressive behavior, Cerebellar hypoplasia, Thick corpus callosum, Pa... |
OMIM:300967 |
Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Dilated fourth ventricle, Hypoplasia ... |
OMIM:619869 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal cerebral cortex morphology, Progressive ventriculomegaly, Ventriculomegaly, Lateral vent... |
ORPHA:500150 |
Aicardi-Goutieres Syndrome 9 |
|
Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification, Cerebral calcificati... |
OMIM:619487 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Zttk Syndrome |
|
Ventriculomegaly, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor... |
OMIM:617140 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Secondary microcephaly, Absent septum pe... |
OMIM:300868 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
Prader-Willi Syndrome Due To Translocation |
|
Cerebral cortical atrophy, Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, ... |
ORPHA:177907 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Pseudobulbar paralysis, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Aggressive... |
ORPHA:466791 |
Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly, Enlarged cerebellum, Cerebral white matter hypoplasia, Hypoplasia of the corpus cal... |
ORPHA:477993 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Ventriculomegaly, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Hypoplasia o... |
OMIM:619479 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Attention deficit hyperactivity disorder |
OMIM:619426 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Choreoacanthocytosis |
|
Self-injurious behavior, Cerebral cortical atrophy, Phonic tics, Head-banging, Lateral ventricle ... |
ORPHA:2388 |
Lead Poisoning |
|
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology |
ORPHA:330015 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Microcephaly, Colpocephaly, Cerebellar vermis hypoplasia |
OMIM:620083 |
Gabriele-De Vries Syndrome |
|
Cortical dysplasia, Attention deficit hyperactivity disorder, Lateral ventricle dilatation |
OMIM:617557 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal corpus callosum morphology, Chiari malformation, Abnormal fear-... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal corpus callosum morphology, Chiari malformation, Abnormal fear-... |
ORPHA:353277 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Leukoencephalopathy, Cerebral cortical atrophy, Lateral ventricle dilatation, Polymicrogyria, Opp... |
OMIM:607872 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pachygyria, Cerebellar vermis hypoplasia, Lateral ventricle dilatation |
OMIM:263520 |
Witteveen-Kolk Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Ag... |
OMIM:613406 |
Genitopatellar Syndrome |
|
Periventricular heterotopia, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Pachygyria,... |
OMIM:606170 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebellar hyp... |
OMIM:300896 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, ... |
ORPHA:261537 |
Keppen-Lubinsky Syndrome |
|
Microcephaly, Lateral ventricle dilatation |
OMIM:614098 |
Kabuki Syndrome 1 |
|
Microcephaly, Lateral ventricle dilatation, Hydrocephalus |
OMIM:147920 |
Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontotemporal cerebral atrophy, Lateral ventricle dilatation, Neonatal death, Hydrocephalus, Aqu... |
OMIM:619534 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
|
OMIM:619964 |