Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Lissencephaly 1 |
|
Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cereb... |
OMIM:607432 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Periventricular Nodular Heterotopia 8 |
|
Spasticity, Periventricular nodular heterotopia, Cerebellar vermis atrophy |
OMIM:618185 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer... |
OMIM:604213 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Microlissencephaly |
|
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Periventricular nodular heterotopia, Spastic paraplegia, Cerebellar hypoplasia |
OMIM:618572 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Pachyg... |
OMIM:615411 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Agyria, Spastic tetrap... |
OMIM:611603 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Spastic tetraplegia, Hypertonia, Lissencephaly, Cerebellar hypoplasia, Pe... |
OMIM:618677 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... |
ORPHA:94122 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria, Agyria |
OMIM:300067 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Pachygyria |
OMIM:614173 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp... |
OMIM:618273 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... |
OMIM:224050 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... |
ORPHA:423275 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Spasticity, Pachygyria, Agyria |
ORPHA:1084 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Tetraparesis, Periventricular heterotopia |
OMIM:608097 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:171703 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor |
OMIM:608029 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Joubert Syndrome 24 |
|
Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity, Pachygyria, Polymicrogyria |
OMIM:616654 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... |
ORPHA:276193 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... |
OMIM:610357 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Symmetrical Thalamic Calcifications |
|
Spasticity, Hypertonia, Ataxia, Abnormality of neuronal migration |
ORPHA:1314 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus |
OMIM:125370 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... |
OMIM:616127 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Spastic tetraparesis, Simplified gyral pattern, Abnormality of neuronal migration, Hemiparesis, G... |
OMIM:604317 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormality of neuronal migration |
OMIM:618709 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Band Heterotopia |
|
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr... |
OMIM:600348 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Cerebellar hypoplasia, Dysgyria, Type II lissencephaly |
ORPHA:352682 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Frontal polymicrogyria, Broad-based gait, Hypoplasia of the pons, Babinski sign, Perisylvian poly... |
OMIM:606854 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Freque... |
ORPHA:370980 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Abnormal cortical... |
ORPHA:98756 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ... |
ORPHA:300573 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Lissencephaly 5 |
|
Cerebellar vermis hypoplasia, Subcortical band heterotopia, Spastic paraplegia, Gray matter heter... |
OMIM:615191 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Li... |
OMIM:616212 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Broad-based gait, Head titubation, Simplified gyral pattern, Gait ataxi... |
OMIM:620208 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ... |
OMIM:616171 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Maternal Hyperthermia-Induced Birth Defects |
|
Hypertonia, Abnormality of neuronal migration |
ORPHA:2216 |
Leber Congenital Amaurosis |
|
Hemiplegia/hemiparesis, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar v... |
ORPHA:65 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Babinski sign, Cerebellar hypoplasia, Abnormality of neuronal migration |
OMIM:608840 |
Glutathionuria |
|
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Hemimegalencephaly |
|
Pachygyria, Hemiparesis, Gray matter heterotopia, Myoclonus, Polymicrogyria, Abnormal neuron morp... |
ORPHA:99802 |
Brain Small Vessel Disease 2 |
|
Hemiplegia, Polymicrogyria, Subcortical heterotopia, Spastic tetraplegia |
OMIM:614483 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia |
OMIM:612020 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:945 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Abnormality of neuronal mig... |
OMIM:300957 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration |
OMIM:300049 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Spasticity |
OMIM:617008 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... |
ORPHA:89844 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Perivent... |
ORPHA:352582 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Subependymal Nodular Heterotopia |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ... |
ORPHA:101030 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Clonus, Olivopontocerebellar hypo... |
ORPHA:370959 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Chiari malformation, Ataxia, Opisthotonus |
OMIM:207950 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Ataxia, Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:255138 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2772 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:164180 |
Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration, Hemiparesis, Chiari malformation, Aplasia/Hypoplasia of the ce... |
ORPHA:2481 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:899 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance... |
ORPHA:475 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Abnormality of neuronal migration |
ORPHA:2518 |
Tetrasomy 18P |
|
Gait disturbance, Abnormality of neuronal migration |
ORPHA:3307 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Subcortical heterotopia, Agyria, Partial agenesis of the corpus callos... |
OMIM:614643 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Abnormality of neurona... |
ORPHA:163681 |
Bilateral Perisylvian Polymicrogyria |
|
Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ... |
ORPHA:98889 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia |
OMIM:617201 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Spasticity |
OMIM:619694 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Periventricular heterotopia, Rigidity, Spastic tetraplegia, Chiari type I malformation, C... |
OMIM:618476 |
Orofaciodigital Syndrome Xvi |
|
Oculomotor apraxia, Inability to walk, Ataxia, Gray matter heterotopia |
OMIM:617563 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Cerebellar hypoplasia |
OMIM:617397 |
Edinburgh Malformation Syndrome |
|
Hypertonia, Abnormality of neuronal migration |
ORPHA:1895 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, H... |
OMIM:619775 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Macrogyria, Opisth... |
ORPHA:2671 |
Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration |
ORPHA:2318 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Man1B1-Cdg |
|
Resting tremor, Broad-based gait, Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:397941 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Oculomotor apraxia, Dandy-Walker m... |
OMIM:617822 |
Desmosterolosis |
|
Abnormal cortical gyration, Rigidity, Abnormality of neuronal migration, Macrogyria, Hypertonia, ... |
ORPHA:35107 |
Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Abnormality of neuronal migrati... |
ORPHA:1454 |
Vici Syndrome |
|
Hypoplasia of the pons, Gray matter heterotopia, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:1493 |
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 |
Alg11-Cdg |
|
Ataxia, Opisthotonus, Gray matter heterotopia, Hypertonia, Limb hypertonia |
ORPHA:280071 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Agenesis of corpu... |
OMIM:615219 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Agen... |
ORPHA:157 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2211 |
Galloway-Mowat Syndrome |
|
Pachygyria, Hemiplegia/hemiparesis, Hypertonia, Abnormality of neuronal migration |
ORPHA:2065 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt... |
ORPHA:75857 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration |
ORPHA:93274 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration, Hypertonia, Gait disturbance, Progressive spasticity, Aplasia/... |
ORPHA:192 |
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 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
3C Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Dandy-Walker malformation |
ORPHA:7 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Spastic tetraplegia, Gray matter heterotopi... |
OMIM:620024 |
Radio-Tartaglia Syndrome |
|
Tremor, Gray matter heterotopia, Ataxia, Gait imbalance |
OMIM:619312 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance |
ORPHA:2754 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Periventricular heterotopia |
OMIM:614105 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Periventricular hete... |
ORPHA:468631 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cerebellar vermis hypoplasia, Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Agen... |
ORPHA:228308 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Difficulty walking |
ORPHA:531151 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia |
ORPHA:2655 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cerebral palsy, Ataxia, Periventricular heterotopia |
OMIM:619833 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Partial... |
OMIM:619895 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618929 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Cerebellar vermis hypoplasia, Ataxia |
ORPHA:314679 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Spasticity |
OMIM:618797 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration |
OMIM:608836 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Gray matter heterotopia, Cerebellar hemisph... |
OMIM:615287 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, L... |
OMIM:304050 |
16P13.11 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Abnormality of neuronal migration |
ORPHA:261236 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Progressive spastic paraplegia |
OMIM:247200 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:605039 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Inability to walk |
ORPHA:26791 |
Acromelic Frontonasal Dysostosis |
|
Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of c... |
OMIM:603671 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Unsteady gait, Gray matter heterotopia, Loss of ambulation, Frequent falls, Polymicrogyria |
OMIM:214100 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr... |
OMIM:243910 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia |
OMIM:187600 |
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 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia |
ORPHA:1860 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Holoprosencephaly |
|
Chorea, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Spasticity, Dand... |
ORPHA:2162 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Broad-based gait, Polymicrogyria, Periventricular nodular heterotopia |
OMIM:618918 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chiari malformation, Polymicro... |
OMIM:618820 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia |
OMIM:618870 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Periventricular heterotopia |
ORPHA:261250 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Gray matter heterotopia, Hypothalamic hamartoma, Agenesis of corpus c... |
OMIM:311200 |
Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618733 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Partial ... |
OMIM:210710 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gait disturbance, Abnormality of neuronal migration |
ORPHA:464311 |
Vici Syndrome |
|
Gray matter heterotopia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:242840 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum |
OMIM:305450 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia, Impaired pain sensation |
ORPHA:453499 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Periventricular heterotopia, Partial agenesis of the corpus callosu... |
OMIM:615948 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia, Inability to walk, Impaired pain sensation |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia, Inability to walk, Impaired pain sensation |
ORPHA:352665 |
Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Periventricular het... |
OMIM:612289 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration, Dandy-Walker ma... |
OMIM:236680 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration |
ORPHA:3186 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Chiari ... |
OMIM:270400 |
Pagod Syndrome |
|
Abnormality of neuronal migration |
ORPHA:991 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Per... |
ORPHA:434179 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... |
ORPHA:261537 |
Genitopatellar Syndrome |
|
Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:606170 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Impaired p... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... |
ORPHA:261552 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |