Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Memory impairment, Falls, Abnormal neuron ... |
ORPHA:412066 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Impulsivity, Polymicrogyria, Lissencephaly, Aggressive behavior, Abnorma... |
OMIM:604317 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Ataxia, Cognitive impairment |
ORPHA:1314 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia |
OMIM:615483 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Memory impairment, Chorea |
ORPHA:401901 |
Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Chorea, Aggressive behavior, Unsteady gait, Dementia |
OMIM:603218 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Decreased body weight, Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Huntington Disease-Like 2 |
|
Apathy, Bradykinesia, Depression, Anxiety, Chorea, Irritability, Dementia |
OMIM:606438 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Mental deterioration, Depression, Anxiety, Difficulty walking |
OMIM:619191 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria |
OMIM:300067 |
Lissencephaly 3 |
|
Ataxia, Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria |
OMIM:611603 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Frontotemporal dementia |
OMIM:616208 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature |
OMIM:618160 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2216 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... |
ORPHA:1083 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Inability to walk |
OMIM:618572 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Ataxia |
OMIM:618709 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
Dystonia 31 |
|
Difficulty walking, Abnormal posturing |
OMIM:619565 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased body weight, Hyperactivity |
OMIM:608747 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Bradykinesia, Inappropriate behavior, Memory impairment, Self-biting, Na... |
OMIM:619827 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria |
ORPHA:101029 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Progressive language deterioration, Self-mutilation, Mental deterioration, Abnormal neuro... |
ORPHA:163681 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity |
OMIM:619970 |
Band Heterotopia |
|
Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia |
OMIM:600348 |
Optic Atrophy 8 |
|
Central scotoma, Visual impairment, Abnormality of pattern visual evoked potentials, Visual loss |
OMIM:616648 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Reduced visual acuity, Abnormal flash visual evoked potentials |
OMIM:618195 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:604213 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Cognitive impairment, Polymicrogyria, Lissen... |
ORPHA:300573 |
Stargardt Disease |
|
Nyctalopia, Color vision defect, Reduced visual acuity, Abnormality of visual evoked potentials, ... |
ORPHA:827 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Cognitive impairment |
OMIM:617008 |
Huntington Disease-Like 1 |
|
Bradykinesia, Dysmetria, Gait disturbance, Gait ataxia, Weight loss, Abnormal posturing |
ORPHA:157941 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity, Agenesis of corpus callosum |
OMIM:274270 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia, Difficulty walking, Tip-toe gait |
ORPHA:370980 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior |
OMIM:309548 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Tip-toe gait, Gait disturbance, Weight loss, Abnormal posturing |
ORPHA:216866 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior |
OMIM:239500 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, Aggressive beh... |
OMIM:261600 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria |
ORPHA:99802 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Aggressive behavior |
ORPHA:2382 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity |
OMIM:615924 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Depression, Anxiety, Gait disturbance |
OMIM:300957 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Growth delay, Lethargy, Abnormal posturing |
OMIM:614857 |
Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Attention defic... |
ORPHA:98818 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Gray matter heterotopia, Dysgyria |
ORPHA:352682 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Cerebral visual impairment |
ORPHA:1389 |
Canavan Disease |
|
Visual impairment, Abnormality of visual evoked potentials, Blindness |
ORPHA:141 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
ORPHA:382 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Mental deterioration, Periventricular heterotopia, Ataxia |
OMIM:618476 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Periventricular nodular heterotopia, Hypoesthesia, Memory impairment, Impaired vibratory sensation |
OMIM:619737 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal amplitude of flash visual evoked potentials, Reduced visual acuity, Abnormality of visua... |
ORPHA:168491 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:93274 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... |
ORPHA:3077 |
Tetrasomy 18P |
|
Abnormality of neuronal migration, Gait disturbance |
ORPHA:3307 |
Mohr-Tranebjaerg Syndrome |
|
Photophobia, Color vision defect, Abnormality of visual evoked potentials, Visual loss, Central s... |
ORPHA:52368 |
Lissencephaly 5 |
|
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia |
OMIM:615191 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Bradykinesia, Gait disturbance, Titubation, Gait ataxia, Abnormal posturing |
ORPHA:225147 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Oculocutaneous Albinism Type 1 |
|
Photophobia, Reduced visual acuity, Abnormality of visual evoked potentials, Amblyopia |
ORPHA:352731 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Subependymal Nodular Heterotopia |
|
Abnormality of neuronal migration, Acroparesthesia, Gray matter heterotopia, Polymicrogyria |
ORPHA:101030 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Polymicrogyria, Lissencephaly, Simplified gyral pattern,... |
OMIM:616212 |
Late-Infantile/Juvenile Krabbe Disease |
|
Blindness, Abnormality of visual evoked potentials, Visual loss, Emotional lability, Visual impai... |
ORPHA:206443 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Abnormality of neuronal migration |
OMIM:614887 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2063 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Progressive visual loss, Abnormality of visual evoked potentials, Constriction of peripheral visu... |
ORPHA:1215 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Color vision defect, Abnormality of visual evoked potentials, Slow decrease in visual acuity, Cen... |
OMIM:601152 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Hyperactivity, Aggressive behavior |
ORPHA:101039 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly |
ORPHA:89844 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Amblyopia |
OMIM:617523 |
Cln5 Disease |
|
Abnormality of visual evoked potentials, Anxiety, Visual impairment, Aggressive behavior |
ORPHA:228360 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior |
OMIM:612716 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Visual impairment, Nyctalopia |
ORPHA:96 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Pachygyria, Cognitive impairment |
ORPHA:2065 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Abulia, Visual loss |
OMIM:125310 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia |
ORPHA:2512 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:1933 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
High myopia, Abnormality of visual evoked potentials |
OMIM:614457 |
Fragile X Syndrome |
|
Periventricular heterotopia, Self-biting |
OMIM:300624 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Ataxia, Self-injurious behavior, Aggressive behavior, Irritability |
OMIM:619833 |
Radio-Tartaglia Syndrome |
|
Gait imbalance, Ataxia, Gray matter heterotopia, Impulsivity, Aggressive behavior |
OMIM:619312 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration |
ORPHA:65 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Abnormal posturing |
OMIM:128100 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Myopia |
ORPHA:2971 |
Joubert Syndrome |
|
Abnormality of neuronal migration, Ataxia, Polymicrogyria, Gait disturbance |
ORPHA:475 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Hypermetropia, Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment |
OMIM:616875 |
Vici Syndrome |
|
Failure to thrive, Hypopigmentation of hair, Albinism, Growth delay, Abnormal posturing |
OMIM:242840 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Ataxia, Pachygyria |
ORPHA:255138 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Friedreich Ataxia |
|
Visual field defect, Abnormality of visual evoked potentials, Visual impairment, Reduced visual a... |
OMIM:229300 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Orofaciodigital Syndrome Xvi |
|
Ataxia, Gray matter heterotopia, Inability to walk |
OMIM:617563 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... |
ORPHA:899 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Chiari Malformation Type Ii |
|
Ataxia, Gray matter heterotopia |
OMIM:207950 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Cognitive impairment, Attention deficit hyperactivity disorder, Aggressive behavio... |
ORPHA:43 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials, Blindness, Emotional lability |
ORPHA:35069 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
White-Sutton Syndrome |
|
Hypermetropia, Self-injurious behavior, Irritability, Abnormality of visual evoked potentials, An... |
OMIM:616364 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials |
ORPHA:320401 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Gray matter heterotopia, Polymicrogyria |
OMIM:617397 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials |
OMIM:601455 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormality of visual evoked potentials, Visual loss |
OMIM:256600 |
Oculocutaneous Albinism Type 1A |
|
Photophobia, Abnormality of visual evoked potentials, Visual impairment |
ORPHA:79431 |
Acromelic Frontonasal Dysostosis |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:603671 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration, Ataxia |
ORPHA:2318 |
Desmosterolosis |
|
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... |
ORPHA:35107 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Progressive language deterioration |
OMIM:610042 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia |
OMIM:164180 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Periventricular heterotopia, Anxiety, Self-injurious behavior |
OMIM:618929 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Polymicrogyria, Type II lissencephaly, Agyria, Lissencephaly, Pachygyria... |
OMIM:614643 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration, Self-injurious behavior, Gait disturbance |
ORPHA:192 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:702 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
Man1B1-Cdg |
|
Broad-based gait, Periventricular heterotopia |
ORPHA:397941 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment |
ORPHA:480898 |
Alg11-Cdg |
|
Ataxia, Gray matter heterotopia |
ORPHA:280071 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Reduced visual acuity, Abnormality of visual evoked potentials, Emotional lability |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Reduced visual acuity, Abnormality of visual evoked potentials, Emotional lability |
ORPHA:309263 |
Familial Infantile Myoclonic Epilepsy |
|
Gait disturbance, Periventricular nodular heterotopia, Ataxia |
ORPHA:352582 |
Infantile Krabbe Disease |
|
Photophobia, Abnormality of visual evoked potentials, Visual loss, Blindness, Irritability |
ORPHA:206436 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggres... |
ORPHA:449291 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia |
ORPHA:2655 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... |
ORPHA:2211 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Type II lissencephaly, Gray matter heterotopia |
OMIM:615287 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Type II lissencephaly, Gray matter heterotopia, Polymicrogyria |
ORPHA:370959 |
9Q21.13 Microdeletion Syndrome |
|
Difficulty walking, Gray matter heterotopia |
ORPHA:531151 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Lethargy, Polymicrogyria |
OMIM:608836 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Gray matter heterotopia, Self-injurious behavior |
ORPHA:314679 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Sandifer Syndrome |
|
Abnormal posturing |
ORPHA:71272 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Small for gestational age |
OMIM:609152 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... |
ORPHA:2671 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Simplified gyral pattern, Gray matter heterotopia, Lissencephaly |
OMIM:615219 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
16P13.11 Microdeletion Syndrome |
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Abnormality of neuronal migration, Self-injurious behavior |
ORPHA:261236 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Joubert Syndrome With Hepatic Defect |
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Abnormality of neuronal migration, Ataxia, Gait disturbance |
ORPHA:1454 |
3C Syndrome |
|
Abnormality of neuronal migration |
ORPHA:7 |
Van Maldergem Syndrome 1 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... |
OMIM:601390 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Abnormality of neuronal migration |
ORPHA:2518 |
6Q Terminal Deletion Syndrome |
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Periventricular heterotopia, Gray matter heterotopia, Dysmetria, Polymicrogyria, Gait ataxia, Abn... |
ORPHA:75857 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:485421 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration, Ataxia, Gait disturbance |
ORPHA:2754 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment |
OMIM:203700 |
Metachromatic Leukodystrophy, Adult Form |
|
Reduced visual acuity, Abnormality of visual evoked potentials, Emotional lability |
ORPHA:309271 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Weight loss, Hyperactivity, Small for gestational age |
ORPHA:424 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:314389 |
Neurocutaneous Melanocytosis |
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Abnormality of neuronal migration |
ORPHA:2481 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Lissencephaly |
OMIM:617822 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Inability to walk |
ORPHA:26791 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormality of neuronal migration, Anxiety, Gait disturbance |
ORPHA:464311 |
Koolen-De Vries Syndrome |
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Conspicuously happy disposition, Gray matter heterotopia, Impulsivity, Anxiety |
OMIM:610443 |
Holoprosencephaly |
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Abnormality of neuronal migration, Chorea, Cognitive impairment |
ORPHA:2162 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
Micro Syndrome |
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Abnormality of visual evoked potentials, Cerebral visual impairment |
ORPHA:2510 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Unsteady gait, Loss of ambulation, Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Pachygyria, Polymicrogyria |
ORPHA:157 |
Hermansky-Pudlak Syndrome |
|
Photophobia, Abnormality of visual evoked potentials, Amblyopia, Visual impairment, Myopia |
ORPHA:79430 |
Periventricular Nodular Heterotopia 9 |
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Broad-based gait, Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria |
OMIM:618918 |
Bilateral Perisylvian Polymicrogyria |
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Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... |
ORPHA:98889 |
Vici Syndrome |
|
Gray matter heterotopia |
ORPHA:1493 |
Van Maldergem Syndrome 2 |
|
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Nijmegen Breakage Syndrome |
|
Mental deterioration, Abnormality of neuronal migration |
ORPHA:647 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia |
OMIM:187600 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Pachygyria, Polymicrogyria |
ORPHA:228308 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia |
ORPHA:1860 |
Metachromatic Leukodystrophy |
|
Abnormality of visual evoked potentials, Visual impairment, Emotional lability |
ORPHA:512 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Miller-Dieker Lissencephaly Syndrome |
|
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly |
OMIM:247200 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia |
OMIM:618870 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Periventricular heterotopia, Self-injurious behavior, Polymicrogyria, Lissencephaly, Simplified g... |
ORPHA:468631 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:619775 |
Familial Gestational Hyperthyroidism |
|
Weight loss, Hyperactivity |
ORPHA:99819 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia |
OMIM:605039 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Emotional lability |
OMIM:620047 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Unsteady gait |
OMIM:618733 |
Tay-Sachs Disease |
|
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia |
ORPHA:845 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Arima Syndrome |
|
Ataxia, Gray matter heterotopia |
OMIM:243910 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Pachygyria, Gray matter heterotopia |
OMIM:620024 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Impaired pain sensation, Gray matter heterotopia |
ORPHA:453499 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Impaired pain sensation, Gray matter heterotopia, Inability to walk |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Impaired pain sensation, Gray matter heterotopia, Inability to walk |
ORPHA:352665 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia |
ORPHA:261250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of visual evoked potentials, Visual impairment, Aggressive behavior, Suicidal ideation |
ORPHA:909 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials |
OMIM:231550 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Mogs-Cdg |
|
Abnormality of visual evoked potentials |
ORPHA:79330 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia |
OMIM:305450 |
Aicardi Syndrome |
|
Pachygyria, Gray matter heterotopia, Polymicrogyria |
OMIM:304050 |
Orofaciodigital Syndrome I |
|
Gray matter heterotopia, Abnormal cortical gyration |
OMIM:311200 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:258 |
Cockayne Syndrome B |
|
Hypermetropia, Abnormality of visual evoked potentials |
OMIM:133540 |
Cockayne Syndrome A |
|
Hypermetropia, Abnormality of visual evoked potentials |
OMIM:216400 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:667 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
Holoprosencephaly 14 |
|
Periventricular heterotopia, Gray matter heterotopia |
OMIM:619895 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration |
ORPHA:3186 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:618820 |
Smith-Lemli-Opitz Syndrome |
|
Periventricular heterotopia, Aggressive behavior, Self-mutilation |
OMIM:270400 |
Pagod Syndrome |
|
Abnormality of neuronal migration |
ORPHA:991 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Pachygyria, Gray matter heterotopia |
OMIM:210710 |
Fontaine Progeroid Syndrome |
|
Periventricular heterotopia, Gray matter heterotopia |
OMIM:612289 |
Orofaciodigital Syndrome Xiv |
|
Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria |
OMIM:615948 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Happy demeanor, Periventricular heterotopia, Ataxia, Inability to walk, Anxiety... |
ORPHA:2152 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Abnormal cortical gyration |
OMIM:236680 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Happy demeanor, Periventricular heterotopia, Inability to walk, Polymicrogyria,... |
ORPHA:261537 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Happy demeanor, Periventricular heterotopia, Inability to walk, Polymicrogyria,... |
ORPHA:261552 |
Orofaciodigital Syndrome Type 14 |
|
Periventricular heterotopia |
ORPHA:434179 |
Genitopatellar Syndrome |
|
Periventricular heterotopia |
OMIM:606170 |