Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... |
OMIM:619970 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Aggressive behavior, Seizure, Bruxism |
ORPHA:356996 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Hypsarrhyth... |
OMIM:617113 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, EEG abnormality, Seizure, Dementia, Disinhibition, Gait disturbance, Myo... |
OMIM:618193 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Chorea, Depression, Athetosis, Dementia, Thalamic calcification, Cognitive impairment, Memory imp... |
OMIM:615483 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressive behavior... |
ORPHA:2382 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, EEG with abnormally slow frequencies, Inability to walk, T2 hypointense thalamus, Unstead... |
ORPHA:1947 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Hypsarrhythmia, Seizure, Dysphagia, Failure to thrive |
OMIM:613668 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Hypoesthesia, Chorea, Dysmetria, Thalamic calcification, Dysphagia, Mental deterioration,... |
OMIM:618317 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Hartnup Disorder |
|
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional labi... |
OMIM:234500 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Seizure |
ORPHA:436151 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Generalized-onset seizure, Inability to walk, Irritability, Seizure |
OMIM:616657 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Seizure precipitated by febrile infection, Confusion, Bilateral tonic... |
ORPHA:363558 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... |
OMIM:301008 |
Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia |
ORPHA:228169 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Seizure, Status epilepticus, Abnorma... |
OMIM:239500 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Dysmetria,... |
ORPHA:254881 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Coasy Protein-Associated Neurodegeneration |
|
Cognitive impairment, Difficulty walking, Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:397725 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... |
ORPHA:1929 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal thalamic MRI signal intensity, Seizure, Dysphagia, Palatal tremor, Fai... |
ORPHA:363717 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Tubulinopathy-Associated Dysgyria |
|
Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Atten... |
ORPHA:467166 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Seizure, Cognitive impairment |
OMIM:238700 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Depression, Seizure, Dementia, Focal ... |
ORPHA:79264 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Depression, Irritability, Progressi... |
ORPHA:248111 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure |
OMIM:619031 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Self-injuriou... |
ORPHA:382 |
Microcephaly, Seizures, And Developmental Delay |
|
Seizure, Hyperactivity, Ataxia |
OMIM:613402 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Mental deterioration, Seizure, Thalamic calcification, Limb ataxia |
OMIM:618824 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... |
ORPHA:3077 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize... |
ORPHA:168491 |
Cln5 Disease |
|
Hyperactivity, Generalized-onset seizure, Ataxia, EEG with spike-wave complexes, Aggressive behav... |
ORPHA:228360 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Seizure, Myoclonus |
OMIM:605899 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Seizure, Hyperactivity, Small for gestational age |
ORPHA:85288 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Seizure,... |
ORPHA:411515 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... |
OMIM:271980 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Obesity, Aggressive behavior |
OMIM:620270 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Dysmetria, Gait ... |
OMIM:618090 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Cognitive impairment, Decreased body weight |
ORPHA:324422 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Seizure, Myoclonus, Mental deterioration |
OMIM:615924 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle, Progressive neurologic... |
OMIM:620315 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... |
ORPHA:163681 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... |
ORPHA:70595 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsive behaviors |
OMIM:301107 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Chorea, Uns... |
ORPHA:485350 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Bilateral t... |
ORPHA:1942 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Leptin Receptor Deficiency |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal eating behavior, A... |
OMIM:614963 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Ataxia, Focal T2 hyperintense thalamic lesion, Agitation, Status epilepticus, Failure to thrive |
OMIM:619046 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... |
OMIM:619913 |
Cach Syndrome |
|
Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia, Dysmetria, Limb at... |
ORPHA:135 |
Acute Disseminated Encephalomyelitis |
|
Interictal EEG abnormality, Somatic sensory dysfunction, Ataxia, Confusion, Aggressive behavior, ... |
ORPHA:83597 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor... |
ORPHA:500180 |
Lissencephaly 4 |
|
Growth delay, Agenesis of corpus callosum, Colpocephaly, Short stature |
OMIM:614019 |
Neuroferritinopathy |
|
T2 hypointense thalamus, Chorea, Subcortical dementia, Abnormal thalamic MRI signal intensity, Fr... |
ORPHA:157846 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Seizure, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:300983 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Euphoria, Frontal lobe dementia, Lateral ventricle dilatation, Dementia, Ina... |
OMIM:221770 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Decreased thalamic volume |
OMIM:618646 |
Mannosidosis, Beta A, Lysosomal |
|
Seizure, Hyperactivity, Aggressive behavior |
OMIM:248510 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics |
OMIM:619927 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Seizure, Abnormal repetitive mannerisms |
OMIM:619470 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Ataxia, Oral-pharyngeal dysphagia, Inability to walk, Abnormal thalamic MRI signal intensity, Imp... |
ORPHA:254930 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Failure to thrive |
OMIM:618362 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Focal T2 hyperintense th... |
OMIM:613724 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Diminished ability to concentrate, Fe... |
OMIM:615516 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Seizure, Compulsive behaviors, Atte... |
OMIM:261600 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, EEG abnormality, Seizure, Bruxism, Abn... |
OMIM:618718 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Slender build, Chorea, Generalized non-motor (abse... |
OMIM:617600 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Small for gestational age, Myoclonus |
OMIM:619057 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... |
ORPHA:435638 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Gait ataxia, Growth delay, Gait imbalance, Intrauterine gr... |
ORPHA:488635 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
EEG with polyspike wave complexes, Seizure, Hyperactivity |
OMIM:617169 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Seizure, Hyperactivity |
OMIM:300928 |
Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity, Short stature, Elevated circulating growth hormone concentra... |
OMIM:608747 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Epileptic spasm, Decreased nerve conduction velocity, Abnormal thalamic MRI signal intensity, Hyp... |
ORPHA:485421 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Hypsarrhythmia, Seizu... |
OMIM:619239 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Febrile seizure (within ... |
ORPHA:404440 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Seizure, Hyperactivity, Failure to thrive |
OMIM:274270 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Focal-onset seizure, Decreased thalamic volume, Myoclonic seizure |
OMIM:619072 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Dementia, Ataxia, Depression |
OMIM:615889 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Lateral ventricle dilata... |
OMIM:607485 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Seizure |
OMIM:612716 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Seizur... |
OMIM:615286 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Seizure, Gait dis... |
OMIM:614104 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Depression |
ORPHA:73256 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Short stature, Impulsivity, Aggressive behavior, Dilated third ventricle, Over... |
ORPHA:500055 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Attention deficit hyperactivity disorder, Dilated third ventricle, Abnormal repetitive ma... |
OMIM:619725 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Anorexia, EEG with bur... |
ORPHA:79139 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with... |
ORPHA:98794 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria... |
OMIM:620242 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Obesity, Seizure, Attention deficit hyperactivity disorder |
OMIM:301013 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short attention span, Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive beh... |
OMIM:300558 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Abnormal temper tantrums, Attention deficit hyperactivity disorder,... |
ORPHA:300573 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity |
OMIM:300454 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Inability to walk, Focal-onset seizure, Seizure, Abnormal t... |
ORPHA:300570 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Seizure, Compulsive beha... |
OMIM:619467 |
Tay-Sachs Disease |
|
Short attention span, Inability to walk, Typical absence seizure, Abnormal thalamic MRI signal in... |
ORPHA:845 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Seizure, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly |
OMIM:614870 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Seizure, Failure to thrive, Abnormal thalamic MRI signal intensity, Cognitive impairment |
ORPHA:444013 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... |
ORPHA:35069 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Lat... |
OMIM:617854 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking, Depression |
ORPHA:306669 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Hydrocephalus, Choreoathetosis, Colpocephaly, Intrauterine growth retardation, Failure to... |
OMIM:616034 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Seizure, Truncal obesity, Bruxism, Recurrent hand flapping |
OMIM:613192 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Seizure, Unsteady gait |
OMIM:617542 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Abnormal repetitive ma... |
OMIM:613443 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Failure to thrive, Short stature, Overweight, Hydrocephalus, Head-banging, ... |
OMIM:619575 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Progressive psychomotor deterioration, Gait ataxia, Seizure, Status epilep... |
ORPHA:363400 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Spastic gait, Difficulty walking |
ORPHA:401815 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ataxia, Short stature, Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly,... |
OMIM:619833 |
Leigh Syndrome |
|
Ataxia, Progressive neurologic deterioration, Infantile spasms, Chorea, Abnormal thalamic MRI sig... |
ORPHA:506 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Broad-based gait, Small for gestational age, Paresthesia, Cognitive impairment, Abnormal thalamus... |
ORPHA:2959 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Short stature, Decreased body weight |
OMIM:619420 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Gait apraxia, EEG with focal sharp waves, Dysmetria, Athetosis, Seizure, S... |
OMIM:617302 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology, Seizure, Gait disturbance |
ORPHA:88619 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Seizure, Polyphag... |
ORPHA:228402 |
Bilateral Generalized Polymicrogyria |
|
Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Lateral ventricl... |
ORPHA:208447 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Seizure... |
OMIM:600430 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Inability to walk, Lateral ventricle dilatation, Bruxism |
OMIM:615716 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... |
ORPHA:100924 |
Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation, Ataxia, Limb ataxia, Dysphagia |
OMIM:607596 |
Meningioma |
|
Enlarged pituitary gland, Hemifacial spasm, Ataxia, Hypothalamic hypothyroidism, Reduced circulat... |
ORPHA:2495 |
Aceruloplasminemia |
|
Ataxia, Akinesia, Chorea, Abnormal thalamic MRI signal intensity, Limb ataxia, Gait ataxia, Cogni... |
ORPHA:48818 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Scissor gait |
ORPHA:363654 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Failure to thrive, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggress... |
OMIM:300912 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Emotional lability, Hypotha... |
ORPHA:2822 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Ataxia, Decreased response to growth hormone stimulation test, Depression, Self-in... |
OMIM:601853 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Tongue thrusting |
ORPHA:77299 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Seizure, Self-mutilation |
ORPHA:52503 |
Sandhoff Disease, Infantile Form |
|
Bilateral tonic-clonic seizure, Abnormal thalamic MRI signal intensity, Myoclonic seizure, Seizur... |
ORPHA:309155 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Generalized myoclonic seizure, Atonic seizure, Aggressiv... |
ORPHA:72 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Seizure, Dysdia... |
OMIM:610217 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou... |
ORPHA:449291 |
Developmental And Epileptic Encephalopathy 31B |
|
Irritability, Colpocephaly, Choking episodes, Failure to thrive, Agenesis of corpus callosum, Ven... |
OMIM:620352 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Dementia, Disinhibition, Gait di... |
ORPHA:43 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle ... |
ORPHA:488627 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Lateral ventricle dilatation, Intrauterine growth retard... |
OMIM:617751 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... |
OMIM:617865 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Small for gestational age, Inability to walk, Partial agenesis of the corpus callosum, La... |
ORPHA:79243 |
Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology |
ORPHA:557003 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Failure to thrive, Bilateral tonic-clonic seizure, Infantile spasms, Generalized c... |
ORPHA:1934 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Large for gestational age, Dysplastic corpus callosum, Self-injurious behavi... |
ORPHA:544488 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Aggressive be... |
OMIM:619244 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Limb myoclonus, Dysmet... |
ORPHA:139396 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Obesity, Lateral ventricle dilatation, Tip-toe gait, Dil... |
OMIM:617296 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Progressive gait ataxia, Seizu... |
OMIM:105830 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased body mass index, Confusion, Abnormal eating behavior, Aggr... |
ORPHA:247585 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus |
OMIM:618314 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Seizure, Inappropriate laught... |
OMIM:103050 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Confusion, Dysesthesia, Impaired proprioceptio... |
ORPHA:79138 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Irritability, Lateral ventricle dilatation, Agitation, Cognitive impairment, Dysphagia |
ORPHA:2148 |
Mucopolysaccharidosis, Type Iiib |
|
Seizure, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior |
OMIM:252920 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Self-injurious behavior, Hyperactivity, Lateral ventricle dilatation, Aggressive behavior |
OMIM:620075 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... |
OMIM:618914 |
Halperin-Birk Syndrome |
|
Inability to walk, Pseudobulbar paralysis, Colpocephaly, Intrauterine growth retardation, Failure... |
OMIM:618651 |
Pontocerebellar Hypoplasia, Type 13 |
|
Inability to walk, Gait ataxia, Lateral ventricle dilatation, Failure to thrive, Dandy-Walker mal... |
OMIM:618606 |
Chronic Bilirubin Encephalopathy |
|
Seizure, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Seizure, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529799 |
Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Ventriculomegaly, Ataxia, Overweight, Inability to walk, Obesity, Lateral v... |
OMIM:619229 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Seizure, Decreased thalamic volume |
ORPHA:370959 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Ataxia |
ORPHA:59315 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Infantile spasms, Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Focal impaire... |
OMIM:618929 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation, Short stature |
OMIM:618330 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Failure to thrive in infancy |
ORPHA:284417 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Small for gestational age, Severe postnatal growth retardation, Lateral... |
ORPHA:3078 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ataxia, Aggressive behavior, Dysmetria, Athetosis, Lateral ventricle di... |
ORPHA:572798 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Lateral ventricle dilatation, Short stature, Dysphagia |
OMIM:619847 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Ataxia, Depression, Mental deterioration, Memory impairment, Dilated third ventricle |
ORPHA:314404 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potential... |
ORPHA:2388 |
Distal Deletion 10Q |
|
Short stature, Ataxia, Aggressive behavior, Postnatal growth retardation, Unsteady gait, Lateral ... |
ORPHA:96148 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Elevated circulating growth hormone concentration, Aggressive behavior |
ORPHA:85327 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Colpocephaly, Decreased bod... |
OMIM:609053 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Subependymal cysts, Lateral ventricle dilatation |
OMIM:610015 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia |
OMIM:608629 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Steppage gait |
OMIM:256850 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Failure to thrive, Irritability, Intrauterine growth retardation, Dilat... |
OMIM:615574 |
Slc35A2-Cdg |
|
Short stature, Failure to thrive in infancy, Inability to walk, Lateral ventricle dilatation, Int... |
ORPHA:356961 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Lateral ventricle dilatation, Low frustration toleran... |
ORPHA:457279 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Aggressive behavior, Inability to walk, Lateral ventricle dilatation, Difficulty walking, Dilated... |
ORPHA:464738 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Failure to thrive, Short stature, Rhizomelic leg shortening, Rhizomelic arm sho... |
ORPHA:397715 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Holoprosencephaly 5 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:609637 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
Malan Overgrowth Syndrome |
|
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Obesity, ... |
ORPHA:54595 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Seizure, Ataxia |
OMIM:620047 |
Glutaric Acidemia I |
|
Choreoathetosis, Hydrocephalus, Failure to thrive, Lateral ventricle dilatation |
OMIM:231670 |
Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Irritability, Lateral ventricle dilatation, Intrauterine growth retardation, Failure... |
OMIM:619487 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age |
OMIM:619278 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:618736 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Seizure, Ataxia, Decreased thalamic volume |
ORPHA:168577 |
Prader-Willi Syndrome Due To Translocation |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177907 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal... |
OMIM:620113 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Hypsarrhythmia, Ir... |
ORPHA:447997 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Short attention span, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Diminished abili... |
OMIM:612863 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Seizure |
OMIM:619306 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Hydranencephaly |
|
Seizure, Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Bainbridge-Ropers Syndrome |
|
Failure to thrive, Inability to walk, Growth delay, Self-injurious behavior, Lateral ventricle di... |
OMIM:615485 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... |
OMIM:234200 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Lateral ventricle dilatation, Tip-toe gait, Attention deficit hyperactivity disord... |
OMIM:617557 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:616602 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Abnormal rep... |
OMIM:615873 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Intrauterine growth retardation, Lateral ventricle dilatation, Tip-toe gait |
ORPHA:565624 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hyperactivity, Agitation, Weight loss |
ORPHA:424 |
Khan-Khan-Katsanis Syndrome |
|
Short stature, Colpocephaly, Dysphagia, Intrauterine growth retardation, Failure to thrive, Ventr... |
OMIM:618460 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Argininemia |
|
Hyperactivity, Anorexia, Irritability, Seizure, Spastic gait |
OMIM:207800 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly, Dysphagia |
ORPHA:261250 |
X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation |
ORPHA:85290 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Seizure, Abnormality of the diencephalon, Ataxia |
ORPHA:2720 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Normochromic anemia, Reduced hematocrit, Anorexia |
ORPHA:91500 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Self-mutilation, Decreased... |
ORPHA:314621 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Short attention span, Pain insensitivity, Somatic sensory dysfunction... |
ORPHA:642 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Short stature, Decreased response to growth hormone stimul... |
ORPHA:1855 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353281 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage, Seizure |
ORPHA:464321 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... |
ORPHA:353277 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
Cog5-Cdg |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Short stature, Truncal ataxia |
ORPHA:263487 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Weight loss |
ORPHA:99819 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Ataxia, Confusion, Abnormal hypothalamus morphology, Irritability, Seizure |
ORPHA:68 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Ataxia, Short stature, Inability to walk, Colpocephaly, Failure to thrive |
OMIM:620083 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Short stature |
OMIM:619995 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Athetosis, Colpocephaly, Intrauterine growth retardation, Failure to t... |
OMIM:614866 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of c... |
OMIM:617260 |
Norrie Disease |
|
Cachexia, Abnormality of the diencephalon, Irritability, Self-injurious behavior, EEG abnormality... |
ORPHA:649 |
Aicardi Syndrome |
|
Postnatal growth retardation, Partial agenesis of the corpus callosum, Choroid plexus cyst, Later... |
OMIM:304050 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Lateral ventricle dilatation, Short stature, Dysphagia |
OMIM:618367 |
Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Seizure, Panhypopituitarism |
OMIM:610828 |
Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Hydrocephalus, Partial agenesis of the corpus ... |
OMIM:270400 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Attention deficit hyperact... |
OMIM:618820 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum |
OMIM:300952 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Progressive neurologic deterioration, Hydrocephalus, Disproportionate short stature, Partial agen... |
OMIM:210710 |
6Q Terminal Deletion Syndrome |
|
Obesity, Dysmetria, Gait ataxia, Colpocephaly, Failure to thrive |
ORPHA:75857 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Short stature, Small for gestational age, Lateral ventricle dilatation,... |
OMIM:619869 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Colpocephaly |
OMIM:309801 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Small pituitary gland, Disproportionate short-limb short stature, V... |
OMIM:619479 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Aggressive behavior, Hydrocephalus, Obesity, Growth delay, Agenesis of corpus callosum, Lateral v... |
OMIM:607872 |
Williams Syndrome |
|
Ataxia, Failure to thrive in infancy, Obesity, Dysmetria, Depression, Gait disturbance, Gait imba... |
ORPHA:904 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Proportionate short stature, Dysplastic corpus callosum, Lateral ve... |
ORPHA:500150 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dilated third ventricle, Dandy... |
ORPHA:434179 |
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, Agenesis of corpus callosum, Dysphagia |
OMIM:606170 |