Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... |
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 |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
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 |
|
Hypoplasia of the pons, Abnormality of the anterior commissure, 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 |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... |
OMIM:614019 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Per... |
ORPHA:300573 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... |
OMIM:608716 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric... |
ORPHA:171703 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Microcephaly, Pachygyria, Gray... |
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 |
|
Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy... |
ORPHA:101029 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly |
OMIM:618010 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Dysphagia, Aplasia/Hypoplasia of the cerebellum, Pachygyr... |
ORPHA:572013 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Hypoplasia of the pons, Dysplastic corpus callosum, Cerebellar atrophy, Microcephaly |
OMIM:618276 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ... |
ORPHA:300570 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum... |
OMIM:300067 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
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 |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter... |
OMIM:619302 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... |
OMIM:618325 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Cerebellar vermis hypoplasia, Microcephaly, Hypoplastic anterio... |
ORPHA:171680 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Agenesis of cerebellar vermis, Ventriculomegaly, Hypoplasia of the pon... |
OMIM:613153 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene... |
OMIM:618286 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of... |
OMIM:615771 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:619501 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral p... |
OMIM:607596 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Microcephaly, Aggressive behavior, Simplified gyral pattern, Cerebral a... |
OMIM:618492 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... |
ORPHA:1528 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Cerebellar hypoplasia, Hypoplasia of the corpus cal... |
OMIM:617090 |
Pontocerebellar Hypoplasia Type 2 |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dysph... |
ORPHA:2524 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo... |
OMIM:304100 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly, Pachygyria |
OMIM:614870 |
Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Primary ... |
OMIM:618266 |
Pontocerebellar Hypoplasia, Type 14 |
|
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenes... |
OMIM:619301 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Leukoencephalopathy, Cerebral ... |
OMIM:221770 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Death in infancy, Impulsivity, Aggressive behavior, Agenesis of corp... |
OMIM:605899 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Periventricular cysts, Cerebral atrophy, Abnormal b... |
ORPHA:255182 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Agenesis o... |
OMIM:218670 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Hypoplasia of t... |
ORPHA:488635 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly |
OMIM:303350 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Death in childhood, Lateral ... |
OMIM:619517 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Microcephaly, Periventricular cysts, Simplified gyral pattern, Abnormal cerebra... |
OMIM:617668 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Abnormal pons ... |
ORPHA:77299 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agen... |
OMIM:614833 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Leukoencephalopathy, Lateral ventricle dilatation, Progressive leukoencephalo... |
OMIM:615889 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly... |
OMIM:616034 |
Central Neurocytoma |
|
Hydrocephalus, Cerebral calcification, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of... |
OMIM:616342 |
Unilateral Hemispheric Polymicrogyria |
|
Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia, Lateral ventricle dilatation |
ORPHA:101071 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia... |
OMIM:616900 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... |
OMIM:609637 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro... |
OMIM:615095 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... |
OMIM:620001 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesi... |
OMIM:618736 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Chia... |
OMIM:207950 |
Microhydranencephaly |
|
Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Agenesis of corpus callosum, Se... |
OMIM:605013 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
Autosomal Recessive Primary Microcephaly |
|
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... |
ORPHA:2512 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Agenesis of corpus callosum |
ORPHA:459074 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ventriculomegaly, Periventricular heterotopia, Periventricular cysts, Cerebellar hypoplasia, Hypo... |
ORPHA:255138 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Microcephaly, Cerebellar gliosis, Partial agenesis of the corpus callosum, Cere... |
ORPHA:79243 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Patent ductu... |
OMIM:617751 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... |
OMIM:620315 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... |
OMIM:613443 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... |
OMIM:616602 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Ventricu... |
ORPHA:370959 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Subependymal Nodular Heterotopia |
|
Focal cortical dysplasia, Occipital encephalocele, Partial agenesis of the corpus callosum, Myelo... |
ORPHA:101030 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of co... |
OMIM:164180 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Cerebral calcification, Cerebellar vermis hypoplasia, Ventriculomegaly, Microcepha... |
OMIM:617281 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Aggressive behavior,... |
ORPHA:488627 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
ORPHA:79326 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatation... |
OMIM:614219 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Periventricular nodular heterotopia, Secondary microcephaly, Perivent... |
OMIM:619737 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Hydrocephalus, Chiari type I malformation, Hypoplasia of the corpus cal... |
OMIM:218350 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus ... |
ORPHA:357058 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Simplified gyral pattern, Lateral ventricle dilatation, Lissencepha... |
ORPHA:284417 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Gray matter h... |
OMIM:615219 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly |
OMIM:618731 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Polymicrog... |
OMIM:225790 |
Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly |
OMIM:614226 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
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 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Cerebella... |
OMIM:618291 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:619420 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation |
OMIM:619972 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Microcephaly, Periventricular heterotopia, Aggressive behavior, Hydrocephalus, Self-injurious beh... |
OMIM:619833 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Dysphagia,... |
OMIM:617669 |
Coach Syndrome 2 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Amish Lethal Microcephaly |
|
Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenes... |
ORPHA:99742 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Hydrocephalus, Progressive microcephaly, Lissencephaly, Cerebellar hypoplasia, Agen... |
OMIM:615249 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Vent... |
OMIM:614643 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Ventriculomegaly, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia ... |
OMIM:619179 |
Cach Syndrome |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Abnormal pons morphology, Dysgyria, Lateral v... |
ORPHA:135 |
Joubert Syndrome 3 |
|
Frontal polymicrogyria, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral v... |
OMIM:608629 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyral pattern, Cerebral at... |
OMIM:619244 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Lateral ventricle dilatation,... |
ORPHA:2148 |
Bilateral Generalized Polymicrogyria |
|
Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter abnormalities, Self-injurious behav... |
ORPHA:208447 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Patent ductus arteriosus, Hyp... |
OMIM:616975 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Death in infancy, Microcephaly, Partial ab... |
OMIM:613150 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Death in childhood, Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata... |
OMIM:607485 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Cerebral cortical hemiatrophy |
ORPHA:306669 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Se... |
ORPHA:544488 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood |
OMIM:619423 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bruxism, Lateral ventricle dilatation, Thin corpus callosum, Microcephaly |
OMIM:615716 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Impulsivity, Pontocerebellar atrophy, Lateral ventricle dilatation, Secondary microcephaly, Atten... |
OMIM:617854 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Choking episodes, Age... |
OMIM:620352 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Corpus callosum atrophy, Abnormal cerebellum morphology, Deep white matter hypodens... |
ORPHA:565624 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebral cortex, Cerebellar hyp... |
OMIM:617914 |
Halperin-Birk Syndrome |
|
Pseudobulbar paralysis, Colpocephaly, Death in childhood, Agenesis of corpus callosum, Ventriculo... |
OMIM:618651 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, ... |
ORPHA:314679 |
Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Patent ductus arteriosus, Gray matter heterotopia, Lateral ... |
OMIM:617397 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Hypoplasia of the corpus callosum |
OMIM:610015 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Patent ductus arteriosus, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,... |
OMIM:618606 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Lateral ventricle dilatation |
OMIM:618330 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Self-injurious behavior... |
OMIM:620075 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Absent septum pellucidum, Periventricular heterotopia, Micr... |
OMIM:619895 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Absent septum pellucidum... |
ORPHA:397715 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microcephaly, Periventricular heterotopia, Lateral ventricle dilatation, Hypoplasia of the corpus... |
OMIM:614105 |
Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia |
ORPHA:621 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chia... |
OMIM:618820 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aggressive behavior, ... |
ORPHA:572798 |
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 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:618619 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atr... |
ORPHA:356961 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... |
OMIM:618914 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia |
OMIM:617101 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities |
OMIM:600721 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Microcephaly, Colpocephaly, Chiari malformation, Agenesis of corpus cal... |
OMIM:609053 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Dand... |
ORPHA:3078 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation |
OMIM:256850 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Abnormal repetitiv... |
ORPHA:261552 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Microcephaly, Cerebral atrophy, Death in childhood, Lateral ventricle dilatation, Dysphagia, Prim... |
OMIM:619847 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Patent ductus arteriosus, Hydrocephalus, Lateral ventricle dilatation, Agenesis o... |
OMIM:612863 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Colpocephaly, Secondary microc... |
OMIM:620113 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Patent ductus arteriosus, Ventriculomegaly |
ORPHA:363444 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Malan Overgrowth Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Lateral ventricle dilatation |
ORPHA:420179 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Hypothalamic atrophy, Lateral ventricle dilatation, Hypopla... |
ORPHA:2822 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia, Colpocephaly, Hypoplasia of the corpus callosum, Dysphagia, Ventricu... |
ORPHA:261250 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:619278 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Dilated third ventricle, Partial agenes... |
OMIM:304050 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Head-banging, Chiari type I malformation, Self-injurious behavior, Lateral ventric... |
OMIM:619575 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Microcephaly, Patent ductus arteriosus, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis... |
OMIM:617260 |
Distal Deletion 10Q |
|
Microcephaly, Aggressive behavior, Patent ductus arteriosus, Lateral ventricle dilatation, Cerebe... |
ORPHA:96148 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... |
OMIM:617296 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Isolated Exencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:563612 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Abn... |
ORPHA:457279 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Death in infancy, Macrogyria, Death in adolescence, Colpocephaly, Cerebellar ... |
OMIM:614866 |
Cog5-Cdg |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Latera... |
ORPHA:263487 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Alobar holoprosencephaly, Microcephaly, Patent ductus arteriosus, Colpocep... |
OMIM:301043 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Abnormal... |
ORPHA:75857 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical ... |
OMIM:210710 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Microcephaly, Death in adolescence, Lateral ventricle dilatation, Secondary mic... |
OMIM:619229 |
Spondyloenchondrodysplasia |
|
Abnormal periventricular white matter morphology, Cerebral calcification, Abnormal lateral ventri... |
ORPHA:1855 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... |
OMIM:151050 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Microcephaly, Self-injurious behavior, Lateral ventricle dilatation, Hypoplasia... |
OMIM:615485 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Lateral ventric... |
OMIM:611209 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... |
ORPHA:293725 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Hydrocephalus, Lateral ventricle dilatation, Death in childhood |
OMIM:612301 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... |
ORPHA:1692 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Thrombocytosis, Pure red cell aplasia, Erythroid hypoplasia, Reticulocyto... |
ORPHA:124 |
Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birth, Microcephaly, Colpo... |
OMIM:618460 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Aggressive behavior, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of ... |
ORPHA:464738 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Death in infancy, Diffuse cerebral atrophy, Hyperactivity, Periventricular he... |
OMIM:270400 |
Weaver Syndrome |
|
Absent septum pellucidum, Patent ductus arteriosus, Lateral ventricle dilatation, Cerebellar hypo... |
OMIM:277590 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum... |
OMIM:618367 |
Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... |
OMIM:619487 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Impulsivity, Aggressive behavior, Dysplastic corpus callosum, Patent ductus arteriosus, Thick cor... |
OMIM:300967 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Ventriculomegaly, Dysplastic corpus callosum, Patent ductus arteriosus after birth at term, Simpl... |
ORPHA:500150 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Zttk Syndrome |
|
Dysplastic corpus callosum, Patent ductus arteriosus, Abnormal cerebral white matter morphology, ... |
OMIM:617140 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Patent ductus arteriosus, L... |
OMIM:619869 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Absent septum pellucidum, Microcephaly, Patent ductus arteriosus, Abnormal cere... |
OMIM:300868 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Prader-Willi Syndrome Due To Translocation |
|
Microcephaly, Patent ductus arteriosus, Head-banging, Lateral ventricle dilatation, Compulsive be... |
ORPHA:177907 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Aggressive behavior, Dysplastic corpus callosum, Patent ductus arteriosus, Chiari type I malforma... |
ORPHA:466791 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cerebral white matter hypoplasia, Colpocephaly, Enlarged cerebellum, Hypoplasia of the corpus cal... |
ORPHA:477993 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia o... |
OMIM:619479 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
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 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Choreoacanthocytosis |
|
Caudate atrophy, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, ... |
ORPHA:2388 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly, Cerebellar vermis hypoplasia, Microcephaly |
OMIM:620083 |
Gabriele-De Vries Syndrome |
|
Cortical dysplasia, Attention deficit hyperactivity disorder, Lateral ventricle dilatation |
OMIM:617557 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Microcephaly, Aggressive behavior, Patent ductus arteriosus, Polymicrogyria, Hydrocephalus, Self-... |
OMIM:607872 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Pachygyria |
OMIM:263520 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Microcephaly, Aggressive behavior, Dysplastic corpus callosum, Cortical dysplasia,... |
OMIM:613406 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Genitopatellar Syndrome |
|
Microcephaly, Periventricular heterotopia, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpu... |
OMIM:606170 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia o... |
OMIM:300896 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... |
ORPHA:261537 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:614098 |
Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation, Microcephaly |
OMIM:147920 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Patent ductus arteriosus, Hydrocephalus, Frontotemporal cerebral atrophy, La... |
OMIM:619534 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
|
OMIM:619964 |