Landau-Kleffner Syndrome |
|
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social and occupationa... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... |
OMIM:619970 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Seizure, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Memory impairment, Seizure, Myoclonus, Disinhibition, T2 hypointense thalamus, Gait disturbance, ... |
OMIM:618193 |
Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Atonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hy... |
OMIM:617113 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Memory impairment, Depression, Chorea, Motor tics, Cognitive impairment, Dementia, Athetosis, Tha... |
OMIM:615483 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Stxbp1-Related Encephalopathy |
|
Ataxia, EEG with abnormally slow frequencies, Generalized myoclonic seizure, Focal impaired aware... |
ORPHA:599373 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Irr... |
ORPHA:2382 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Focal impaire... |
ORPHA:1947 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Seizure, Hyperactivity |
OMIM:615493 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Failure to thrive, Seizure, Hypsarrhythmia, Dysphagia |
OMIM:613668 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Seizure, Gait ataxia, Hyperactivity, Dysphagia, Status epilepticus, Impulsivity |
OMIM:620448 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Mental deterioration, Memory impairment, Chorea, Dysmetria, Thalamic calcification, Ataxia, Hypoe... |
OMIM:618317 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Gait disturbance, Dysphagia, Dysdiadochokinesis |
ORPHA:228169 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Seizure, Generalized-onset seizure, Inability to walk, Irritability, Hyperactivity |
OMIM:616657 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Seizure |
ORPHA:436151 |
New-Onset Refractory Status Epilepticus |
|
Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo... |
ORPHA:363558 |
Spinocerebellar Ataxia With Epilepsy |
|
Depression, Focal T2 hyperintense thalamic lesion, Bilateral tonic-clonic seizure with focal onse... |
ORPHA:254881 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Seizure, Febrile seizure (within the age range of 3... |
OMIM:301008 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... |
ORPHA:208441 |
Hyperprolinemia, Type I |
|
Seizure, Aggressive behavior, Hyperactivity, EEG abnormality, Ataxia, Motor stereotypy, Status ep... |
OMIM:239500 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
Rasmussen Subacute Encephalitis |
|
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Cognitive impairment, ... |
ORPHA:1929 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Coasy Protein-Associated Neurodegeneration |
|
Compulsive behaviors, Difficulty walking, Abnormal thalamus morphology, Cognitive impairment |
ORPHA:397725 |
Alexander Disease Type I |
|
Palatal tremor, Failure to thrive, Seizure, Cachexia, Ataxia, Dysphagia, Abnormal thalamic MRI si... |
ORPHA:363717 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Hartnup Disorder |
|
Seizure, Episodic ataxia, Emotional lability, Generalized tonic seizure, Attention deficit hypera... |
OMIM:234500 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity, Seizure |
OMIM:300271 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology, Generalized non-motor (absence) seizure, Infantile spasms, Startle-... |
ORPHA:467166 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Seizure, Interictal EEG abnormality, Focal T2 hyperintense thalamic lesion, Emotional... |
ORPHA:79264 |
Female Restricted Epilepsy With Intellectual Disability |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:101039 |
Juvenile Huntington Disease |
|
Broad-based gait, Depression, Seizure, Chorea, Gait ataxia, Myoclonus, Irritability, Weight loss,... |
ORPHA:248111 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive ... |
ORPHA:168491 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Seizure, Ataxia |
OMIM:613402 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Mental deterioration, Limb ataxia, Thalamic calcification, Seizure |
OMIM:618824 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Focal impaired awareness seizure, Atonic seizure, Seizure, Chorea, Aggre... |
ORPHA:382 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Seizure, Focal EEG discharges w... |
ORPHA:3077 |
Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Typical absence seizure, Failure to thrive, Crouch gait, Gait ataxia, Myoclonu... |
OMIM:620145 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Glycine Encephalopathy 1 |
|
Seizure, Myoclonus, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Failure to thrive, Seizure, Generalized-onset seizure, Self-mutilation, Aggressive behavior, Hype... |
OMIM:604317 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Hyperactivity, Seizure |
ORPHA:85288 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Aggressive behavior, H... |
OMIM:271980 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Seizure, Inappropriate laughter, Obesity, Short attention span, Polyphagia, Hyp... |
ORPHA:411515 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Cognitive impairment, Decreased body weight |
ORPHA:324422 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Memory impairment, EEG with generalized epileptiform discharges, Inappro... |
OMIM:619827 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Aggressive behavior, Obesity, Hyperactivity, Ataxia |
OMIM:620270 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Seizure, Myoclonus, Hyperactivity, Ataxia |
OMIM:615924 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Depression, Generalized non-motor (absence) seizure, Seizure, Chorea, In... |
ORPHA:485350 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Progressive neurologic deterioration, Lateral ventricle dilatation, Dilated third ventricle, Loss... |
OMIM:620315 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Memory impairment, Depression, Seizure, Gait ataxia, Positive Rombe... |
ORPHA:70595 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Tonic seizure, Gait disturbance, Hyperactivity, Bilate... |
OMIM:618090 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Mental deterioration, EEG with generalized epileptiform discharges, Sei... |
ORPHA:163681 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Emotion... |
OMIM:614963 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Seizure, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait |
OMIM:301107 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Focal T2 hyperintense thalamic lesion, Ataxia, Status epilepticus, Agitation |
OMIM:619046 |
Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... |
OMIM:609425 |
Lissencephaly 4 |
|
Short stature, Colpocephaly, Growth delay, Agenesis of corpus callosum |
OMIM:614019 |
Pitt-Hopkins-Like Syndrome 1 |
|
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Aggressive behav... |
OMIM:610042 |
Myoclonic-Astatic Epilepsy |
|
EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-motor (a... |
ORPHA:1942 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (a... |
OMIM:619913 |
Cach Syndrome |
|
Seizure, Limb ataxia, Dysmetria, Irritability, T2 hypointense thalamus, Cognitive impairment, Pro... |
ORPHA:135 |
Acute Disseminated Encephalomyelitis |
|
Mental deterioration, Somatic sensory dysfunction, Seizure, EEG with generalized slow activity, C... |
ORPHA:83597 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Memory impairment, Inappropriate behavior, Lateral ventricle dilatation, Frontal lobe dementia, D... |
OMIM:221770 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Seizure, Inability to walk, Chorea, Gait ataxia, Aggressive behavior, Hy... |
ORPHA:500180 |
Neuroferritinopathy |
|
Palatal tremor, Difficulty walking, Frontal lobe dementia, Chorea, Emotional lability, T2 hypoint... |
ORPHA:157846 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Hyperactivity, Seizure, Ataxia |
OMIM:300983 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Failure to thrive, Oral-pharyngeal dysphagia, Difficulty walking, Inability to walk, Distal senso... |
ORPHA:254930 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Decreased thalamic volume |
OMIM:618646 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Seizure, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:619470 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... |
OMIM:615516 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors |
OMIM:619927 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Focal T2 hyperintense thalamic lesion, Decreased motor nerve conduc... |
OMIM:613724 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Seizure, Epileptic spasm, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, D... |
ORPHA:485421 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Myoclonus, Small for gestational age |
OMIM:619057 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Intrauterine growth retardation, Gait imbalance, Gait ataxia, Abnormal lateral ventricle morpholo... |
ORPHA:488635 |
3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology, Generalized non-motor (absence) seizure, Attention deficit hyperact... |
ORPHA:435638 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Seizure, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, EE... |
OMIM:618718 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Truncal obesity |
ORPHA:75858 |
Insulin-Like Growth Factor I Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Decreased bo... |
OMIM:608747 |
Phenylketonuria |
|
Depression, Seizure, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hypera... |
OMIM:261600 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Slender build, Chorea, Recurrent hand... |
OMIM:617600 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
EEG with polyspike wave complexes, Hyperactivity, Seizure |
OMIM:617169 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology, Seizure, Febrile seizure (within the age range of 3 months to 6 yea... |
ORPHA:404440 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Seizure |
OMIM:300928 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Myoclonic seizure, Decreased thalamic volume, Focal-onset seizure |
OMIM:619072 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dementia, Depression, Lateral ventricle dilatation, Ataxia |
OMIM:615889 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Memory impairment, Lateral ventricle dilatation, Disinhibition, Polyphagia, Repetitive compulsive... |
OMIM:607485 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Failure to thrive, Seizure, EEG with burst suppression, Infantile spasms, Tonic seizure, Hypsarrh... |
OMIM:619239 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Depression, Hydrocephalus, Ataxia |
ORPHA:73256 |
Progressive Supranuclear Palsy |
|
Memory impairment, Depression, Falls, Emotional lability, Irritability, Cognitive impairment, Dem... |
ORPHA:683 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Abnormal temper tantrums, Ventriculomegaly, Dilated third ventricle, Failure to thrive, Obsessive... |
ORPHA:500055 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Failure to thrive in infa... |
OMIM:614104 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Seizure, Decreased response to growth hormone stimulation test, Aggressive beh... |
OMIM:615286 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte... |
OMIM:620292 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Attention deficit hyperactivity disorder, Motor tics, Ataxia, Motor ster... |
OMIM:619725 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Seizure, Chorea, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impu... |
OMIM:620445 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal thalamus morphology, EEG with burst suppressi... |
ORPHA:79139 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Depression, Failure to thrive, Postnatal growth retardation, Short attention span, Aggressive beh... |
OMIM:620242 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Seizure |
OMIM:617182 |
Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal temper tantrums, Lateral ventricle dilatation, Agenesis of corpus callosum, Attention de... |
ORPHA:300573 |
Tay-Sachs Disease |
|
Mania, Memory impairment, Typical absence seizure, Depression, Seizure, Inability to walk, Short ... |
ORPHA:845 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal thalamus morphology, Seizure, Inability to walk, Short attention span, Emotional labilit... |
ORPHA:300570 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Generalized non-motor (absence) seizure, Seizure, Short attention span, Aggressive behavior, Hype... |
OMIM:300558 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
EEG with abnormally slow frequencies, Broad-based gait, Seizure, Inappropriate laughter, Abnormal... |
ORPHA:98794 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Seizure, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Neonatal death |
OMIM:614870 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Depression, Seizure, Aggressive behavior, Hyperactivity, Compulsive beha... |
OMIM:619467 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:300454 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Chorea, Cognitive impairment |
ORPHA:309246 |
Infantile Neuroaxonal Dystrophy |
|
Mental deterioration, Seizure, Short attention span, Emotional lability, Abnormality of periphera... |
ORPHA:35069 |
Hyperlysinemia, Type I |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Short attention span, Cog... |
OMIM:238700 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Lateral ventricle dilatation, Inability to walk, Short attention span, Attentio... |
OMIM:617854 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Difficulty walking, Depression, Lateral ventricle dilatation |
ORPHA:306669 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Seizure, Failure to thrive, Cognitive impairment, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilated fourth ventricle, Moto... |
OMIM:613443 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Dilated third ventricle, Head-banging, Failure to thrive, Lateral ventri... |
OMIM:619575 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Colpocephaly, Hydrocephalus... |
OMIM:616034 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Unsteady gait, Seizure |
OMIM:617542 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Seizure, Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity |
OMIM:613192 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Difficulty walking, Colpocephaly, Spastic gait |
ORPHA:401815 |
Panhypophysitis |
|
Secondary growth hormone deficiency, Polydipsia, Increased circulating prolactin concentration, P... |
ORPHA:95513 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Self-injurious behavior, Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Ir... |
OMIM:619833 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Seizure, Progressive psychomotor deterioration, Gait ataxia, Myoclonus, Hyperactivity, Cognitive ... |
ORPHA:363400 |
Leigh Syndrome |
|
Failure to thrive, Seizure, Chorea, Infantile spasms, Hypsarrhythmia, Ataxia, Progressive neurolo... |
ORPHA:506 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Broad-based gait, Abnormal thalamus morphology, Paresthesia, Cognitive impairment, Small for gest... |
ORPHA:2959 |
Martsolf Syndrome 2 |
|
Short stature, Lateral ventricle dilatation, Decreased body weight |
OMIM:619420 |
Optic Atrophy 11 |
|
Seizure, EEG with focal sharp waves, Stereotypical body rocking, Dysmetria, Attention deficit hyp... |
OMIM:617302 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Growth delay, Lateral ventricle dilatation, Oral-pharyngeal dysphagia, S... |
ORPHA:208447 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce... |
ORPHA:90041 |
Familial Acute Necrotizing Encephalopathy |
|
Gait disturbance, Abnormal thalamus morphology, Seizure |
ORPHA:88619 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Inability to walk, Bruxism, Growth delay, Lateral ventricle dilatation |
OMIM:615716 |
Aceruloplasminemia |
|
Memory impairment, Chorea, Limb ataxia, Gait ataxia, Akinesia, Cognitive impairment, Ataxia, Abno... |
ORPHA:48818 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Mental deterioration, Hypothalamic atrophy, Memory impairment, Seizure, Inability to walk, Obesit... |
ORPHA:2822 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Restlessness, Abnormal fear-induced behavior, Difficulty walking, Abnormal erythrocyt... |
ORPHA:100924 |
Pontocerebellar Hypoplasia, Type 1A |
|
Limb ataxia, Dysphagia, Lateral ventricle dilatation, Ataxia |
OMIM:607596 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Scissor gait, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Meningioma |
|
Transient global amnesia, Secondary growth hormone deficiency, Memory impairment, Hypothalamic hy... |
ORPHA:2495 |
Microphthalmia-Brain Atrophy Syndrome |
|
Tongue thrusting, Lateral ventricle dilatation |
ORPHA:77299 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Generalized non-motor (absence) seizure, Bulimia, Atonic seizure, Bruxism, Ste... |
OMIM:300912 |
Sandhoff Disease, Infantile Form |
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Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Abnormal thalamic MRI sign... |
ORPHA:309155 |
X-Linked Creatine Transporter Deficiency |
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Seizure, Chorea, Self-mutilation, Cachexia, Hyperactivity, Ataxia, Athetosis |
ORPHA:52503 |
Band Heterotopia |
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Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:600348 |
Developmental And Epileptic Encephalopathy 31B |
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Ventriculomegaly, Failure to thrive, Irritability, Agenesis of corpus callosum, Colpocephaly, Cho... |
OMIM:620352 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
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Partial agenesis of the corpus callosum, Restlessness, Lateral ventricle dilatation |
OMIM:619517 |
Angelman Syndrome |
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Self-injurious behavior, Broad-based gait, Atonic seizure, Seizure, Inability to walk, Inappropri... |
ORPHA:72 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Ventriculomegaly, Lateral ventricle dilatation, Failure to thrive in infancy, Difficulty walking,... |
ORPHA:488627 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Lateral ventricle dilatation, Dilated fourth ventricle, Intrauterine growth retardation, Hyperact... |
OMIM:617751 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Self-injurious behavior, Abnormal temper tantrums, Depression, Seizure, Recurrent hand flapping, ... |
ORPHA:449291 |
Congenital Hydrocephalus |
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Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
X-Linked Adrenoleukodystrophy |
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Somatic sensory dysfunction, Disinhibition, Aggressive behavior, Attention deficit hyperactivity ... |
ORPHA:43 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Mental deterioration, Seizure, Chorea, Gait ataxia, Short attention span, Dysmetria, Emotional la... |
OMIM:610217 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Intrauterine growth retardatio... |
ORPHA:79243 |
Oculoskeletodental Syndrome |
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Abnormal thalamus morphology |
ORPHA:557003 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Self-injurious behavior, Dilated third ventricle, Lateral ventricle dilatation, Large for gestati... |
ORPHA:544488 |
Graves Disease |
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Polyphagia, Weight loss, Hyperactivity, Irritability |
OMIM:275000 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
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Broad-based gait, Failure to thrive, Stereotypical body rocking, Unsteady gait, Tongue thrusting,... |
OMIM:617865 |
Early Infantile Epileptic Encephalopathy |
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Self-injurious behavior, Failure to thrive, Generalized non-motor (absence) seizure, Episodic ata... |
ORPHA:1934 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
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Dilated third ventricle, Tip-toe gait, Lateral ventricle dilatation, Obesity, Spastic gait, Parti... |
OMIM:617296 |
Polyrrhinia |
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Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Aggressive behavior, Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus ca... |
OMIM:619244 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
X-Linked Cerebral Adrenoleukodystrophy |
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Mental deterioration, Memory impairment, Limb myoclonus, Seizure, Difficulty walking, Confusion, ... |
ORPHA:139396 |
Acute Interstitial Pneumonia |
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Reduced hematocrit |
ORPHA:79126 |
Adenohypophysitis |
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Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... |
ORPHA:95512 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
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Lateral ventricle dilatation, Irritability, Cognitive impairment, Dysphagia, Agitation |
ORPHA:2148 |
Citrullinemia Type Ii |
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Decreased body mass index, Memory impairment, Seizure, Confusion, Abnormal eating behavior, Irrit... |
ORPHA:247585 |
Angelman Syndrome |
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Broad-based gait, Seizure, Obesity, Progressive gait ataxia, Hyperactivity, EEG abnormality, Atax... |
OMIM:105830 |
Bickerstaff Brainstem Encephalitis |
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Sensory ataxia, Decreased motor nerve conduction velocity, Confusion, EEG abnormality, Ataxia, Dy... |
ORPHA:79138 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Self-injurious behavior, Lateral ventricle dilatation, Aggressive behavior, Motor stereotypy, Imp... |
OMIM:618914 |
Pontocerebellar Hypoplasia, Type 13 |
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Lateral ventricle dilatation, Failure to thrive, Inability to walk, Gait ataxia, Dandy-Walker mal... |
OMIM:618606 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
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Self-injurious behavior, Aggressive behavior, Lateral ventricle dilatation, Hyperactivity |
OMIM:620075 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus |
OMIM:618314 |
Halperin-Birk Syndrome |
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Ventriculomegaly, Failure to thrive, Pseudobulbar paralysis, Inability to walk, Intrauterine grow... |
OMIM:618651 |
Chronic Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Seizure, Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Seizure, Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Den Hoed-De Boer-Voisin Syndrome |
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Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Obesity, Intrauterine growth r... |
OMIM:619229 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Decreased thalamic volume, Seizure |
ORPHA:370959 |
Unilateral Hemispheric Polymicrogyria |
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Lateral ventricle dilatation |
ORPHA:101071 |
Intellectual Developmental Disorder, X-Linked 103 |
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Lateral ventricle dilatation |
OMIM:300982 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Self-injurious behavior, Infantile spasms, Attention deficit hyperactivity disorder, Interhypotha... |
OMIM:618929 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Short stature, Lateral ventricle dilatation |
OMIM:618330 |
Rhombencephalosynapsis |
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Fusion of the left and right thalami, Ataxia |
ORPHA:59315 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Failure to thrive in infancy, Intrauterine growth retardation, Lateral ventricle dilatation |
ORPHA:284417 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Lateral ventricle dilatation, Dilated fourth ventricle, Severe postnatal growth retardation, Smal... |
ORPHA:3078 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
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Short stature, Lateral ventricle dilatation, Dysphagia, Small for gestational age |
OMIM:619847 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Intrauterine growth retardati... |
ORPHA:572798 |
Pontocerebellar Hypoplasia, Type 12 |
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Lateral ventricle dilatation |
OMIM:618266 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Mental deterioration, Dilated third ventricle, Memory impairment, Depression, Ataxia |
ORPHA:314404 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Myoclonic seizure, Seizure, EEG with burst suppression, Infantile spasms, Myoclonus, Agitation, I... |
OMIM:620423 |
Hypotonia, Infantile, With Psychomotor Retardation |
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Lateral ventricle dilatation |
OMIM:616816 |
Choreoacanthocytosis |
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Mental deterioration, Emotional lability, Hair-pulling, Loss of ambulation, Weight loss, Dysphagi... |
ORPHA:2388 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Aggressive behavior, Hyperactivity, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Distal Deletion 10Q |
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Failure to thrive, Lateral ventricle dilatation, Postnatal growth retardation, Aggressive behavio... |
ORPHA:96148 |
Glutamine Deficiency, Congenital |
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Subependymal cysts, Lateral ventricle dilatation, Neonatal death |
OMIM:610015 |
Fanconi Anemia, Complementation Group I |
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Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Decreased... |
OMIM:609053 |
Joubert Syndrome 3 |
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Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia |
OMIM:608629 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
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Colpocephaly |
OMIM:618731 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
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Lateral ventricle dilatation |
OMIM:619972 |
Asparagine Synthetase Deficiency |
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Ventriculomegaly, Dilated third ventricle, Failure to thrive, Dilated fourth ventricle, Intrauter... |
OMIM:615574 |
Slc35A2-Cdg |
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Lateral ventricle dilatation, Failure to thrive in infancy, Inability to walk, Intrauterine growt... |
ORPHA:356961 |
Pituitary Adenoma 4, Acth-Secreting |
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Pituitary adenoma, Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity |
OMIM:219090 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Abnormal temper tantrums, Lateral ventricle dilatation, Low frustration tolerance, Aggressive beh... |
ORPHA:457279 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Dilated third ventricle, Lateral ventricle dilatation, Difficulty walking, Inability to walk, Age... |
ORPHA:464738 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Ventriculomegaly, Dilated third ventricle, Failure to thrive, Lateral ventricle dilatation, Rhizo... |
ORPHA:397715 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
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Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Growth delay |
OMIM:620156 |
Glutaric Acidemia I |
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Hydrocephalus, Lateral ventricle dilatation, Failure to thrive, Choreoathetosis |
OMIM:231670 |
Malan Overgrowth Syndrome |
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Ventriculomegaly, Lateral ventricle dilatation, Episodic ataxia |
ORPHA:420179 |
Craniopharyngioma |
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Increased circulating prolactin concentration, Seizure, Hypopituitarism, Obesity, Abnormal hypoth... |
ORPHA:54595 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
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Lateral ventricle dilatation, Small for gestational age |
OMIM:619278 |
Prader-Willi Syndrome Due To Translocation |
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Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, Decreased response to growt... |
ORPHA:177907 |
Aicardi-Goutieres Syndrome 9 |
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Failure to thrive, Lateral ventricle dilatation, Intrauterine growth retardation, Self-mutilation... |
OMIM:619487 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum |
OMIM:618736 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Decreased thalamic volume, Seizure, Ataxia |
ORPHA:168577 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Postnatal growth retardation, Intrauterine growth retardation, Agenesis of corpus callosum, Colpo... |
OMIM:620113 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Lateral ventricle dilatation, Intrauterine growth retardation, Short attention span, Agenesis of ... |
OMIM:612863 |
Hydranencephaly |
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Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema, Seizure |
ORPHA:2177 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Infantile spasms, Hair-pulling, Irritability, Hypsarrhythmia, Dysphagia, Hyperactivity, Myoclonic... |
ORPHA:447997 |
Microcephaly 29, Primary, Autosomal Recessive |
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Emotional lability, Hyperactivity, Seizure, Ataxia |
OMIM:620047 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Fusion of the left and right thalami, Seizure |
OMIM:619306 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... |
OMIM:613154 |
Bainbridge-Ropers Syndrome |
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Self-injurious behavior, Growth delay, Failure to thrive, Lateral ventricle dilatation, Inability... |
OMIM:615485 |
Helsmoortel-Van Der Aa Syndrome |
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Ventriculomegaly, Failure to thrive, Lateral ventricle dilatation, Decreased response to growth h... |
OMIM:615873 |
Gabriele-De Vries Syndrome |
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Tip-toe gait, Lateral ventricle dilatation, Intrauterine growth retardation, Attention deficit hy... |
OMIM:617557 |
Craniosynostosis 6 |
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Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum |
OMIM:616602 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Loss of ambulation, Intrauterine growth retardation, Tip-toe gait, Lateral ventricle dilatation |
ORPHA:565624 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Dilated third ventricle, Lateral ventricle dilatation, Inability to walk, Decreased body weight, ... |
OMIM:620371 |
Khan-Khan-Katsanis Syndrome |
|
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Colpocephaly, Short stature... |
OMIM:618460 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Weight loss, Hyperactivity, Agitation, Small for gestational age |
ORPHA:424 |
Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:618619 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, ... |
OMIM:234200 |
X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation |
ORPHA:85290 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Steppage gait, Lateral ventricle dilatation |
OMIM:256850 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Colpocephaly, Dysphagia |
ORPHA:261250 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Normochromic anemia, Anorexia |
ORPHA:91500 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon, Seizure, Ataxia |
ORPHA:2720 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Self-mutilation, Decreased... |
ORPHA:314621 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Depression, Seizure, Aggressive behavior, Hyperactivity, Ataxia, Choreoathetosis |
OMIM:612716 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Seizure, Thalamic hemorrhage |
ORPHA:464321 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... |
OMIM:615219 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Pain insensitivity, Hyperesthesia, Somatic sensory dysfunction, Painless fractures due to injury,... |
ORPHA:642 |
Spondyloenchondrodysplasia |
|
Ventriculomegaly, Decreased response to growth hormone stimulation test, Abnormal lateral ventric... |
ORPHA:1855 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Seizure, Obesity, Emo... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Postnatal growth reta... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Postnatal growth reta... |
ORPHA:353277 |
Cog5-Cdg |
|
Short stature, Truncal ataxia, Intrauterine growth retardation, Lateral ventricle dilatation |
ORPHA:263487 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
Familial Gestational Hyperthyroidism |
|
Weight loss, Hyperactivity, Agitation |
ORPHA:99819 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Failure to thrive, Inability to walk, Colpocephaly, Ataxia, Short stature |
OMIM:620083 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Short stature, Lateral ventricle dilatation |
OMIM:619995 |
Amoebiasis Due To Free-Living Amoebae |
|
Seizure, Confusion, Irritability, Abnormal hypothalamus morphology, Ataxia, Restlessness |
ORPHA:68 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Ventriculomegaly, Decreased response to growth hormone stimulation test, Agenesis of corpus callo... |
OMIM:617260 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Failure to thrive, Intrauterine growth retardation, Agenesis of corpus callosum, Colpocephaly, At... |
OMIM:614866 |
Norrie Disease |
|
Self-injurious behavior, Failure to thrive, Seizure, Irritability, Attention deficit hyperactivit... |
ORPHA:649 |
Aicardi Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Postnatal growth retardation, Choroid plex... |
OMIM:304050 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short stature, Dysphagia, Lateral ventricle dilatation, Irritability |
OMIM:618367 |
Holoprosencephaly 7 |
|
Panhypopituitarism, Fusion of the left and right thalami, Seizure |
OMIM:610828 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Self-mutilation, Aggressive behavior, Colpoce... |
OMIM:270400 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Colpocephaly, Attention deficit hyperactivity disorder, Dysplastic corpus callosum, Agenesis of c... |
OMIM:618820 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum |
OMIM:300952 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Disproportionate short stature, Failure to thrive, Lateral ventricle dilatation, Intrauterine gro... |
OMIM:210710 |
6Q Terminal Deletion Syndrome |
|
Failure to thrive, Obesity, Gait ataxia, Dysmetria, Colpocephaly |
ORPHA:75857 |
Neurocardiofaciodigital Syndrome |
|
Lateral ventricle dilatation, Failure to thrive, Dilated fourth ventricle, Short stature, Small f... |
OMIM:619869 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:309801 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Small pituitary gland, Ventriculomegaly, Disproportionate short-limb short stature, Lateral ventr... |
OMIM:619479 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Williams Syndrome |
|
Abnormality of the diencephalon, Depression, Failure to thrive in infancy, Obesity, Gait imbalanc... |
ORPHA:904 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Growth delay, Lateral ventricle dilatation, Obesity, Oppositional defiant disorder, Self-mutilati... |
OMIM:607872 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Growth delay, Lateral ventricle dilatation |
OMIM:612301 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Progressive ventriculomegaly, Ventriculomegaly, Lateral ventricle dilatation, Failure to thrive i... |
ORPHA:500150 |
Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle, Dandy... |
ORPHA:434179 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Failure to thrive |
OMIM:614098 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly |
ORPHA:477993 |
Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:301043 |
Genitopatellar Syndrome |
|
Colpocephaly, Dysphagia, Agenesis of corpus callosum |
OMIM:606170 |