Microcephaly 7, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:612703 |
Microcephaly 12, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:616080 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Pachygyria, Lissencephaly |
OMIM:614499 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... |
ORPHA:280397 |
Microcephaly 9, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Impulsivity, Aggressive behavior |
OMIM:614852 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Impulsivity, Polymicrogyria, Lissencephaly, Aggressive behavior, Abnorma... |
OMIM:604317 |
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive |
|
Perisylvian polymicrogyria |
OMIM:615752 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Pachygyria |
OMIM:300067 |
Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... |
ORPHA:1083 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia |
OMIM:600348 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria |
ORPHA:101029 |
Cortical Malformations, Occipital |
|
Pachygyria, Polymicrogyria |
OMIM:614115 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
Huntington Disease-Like 2 |
|
Apathy, Action tremor, Depression, Anxiety, Weight loss, Dystonia, Irritability, Dementia |
OMIM:606438 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Failure to thrive, Cognitive impairment |
ORPHA:1314 |
Lissencephaly 3 |
|
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria |
OMIM:611603 |
Joubert Syndrome 13 |
|
Pachygyria |
OMIM:614173 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Memory impairment, Tremor, Dys... |
ORPHA:401901 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia |
OMIM:615483 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Neonatal death, Polymicrogyria |
OMIM:619602 |
Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Anxiety, Writer's cramp, Tremor |
OMIM:159900 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria |
OMIM:604213 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele |
ORPHA:352682 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia |
ORPHA:36899 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia |
OMIM:618572 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Depression, Anxiety, Dystonia, Dementia |
OMIM:605909 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus |
OMIM:618709 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2216 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Polymicrogyria, Cognitive impairment |
OMIM:300388 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... |
ORPHA:412066 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Periventricular ribbonlike heterotopia, Lissencephaly |
OMIM:618677 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Acalvaria |
|
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... |
ORPHA:168782 |
Lissencephaly 5 |
|
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... |
OMIM:615191 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Depression, Increased body mass index, Anxiety, Truncal obesity, Tremo... |
OMIM:300957 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death |
OMIM:257100 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Gray matter heterotopia, Nasofrontal encephalocele, Polymicrogyria, Meningocele... |
ORPHA:101030 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Cognitive impairment |
OMIM:617008 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Cognitive impairment, Polymicrogyria, Lissen... |
ORPHA:300573 |
Tay-Sachs Disease |
|
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria |
ORPHA:99802 |
Perry Syndrome |
|
Apathy, Depression, Anxiety, Inappropriate behavior, Tremor, Suicidal ideation, Disinhibition, Dy... |
OMIM:168605 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia |
ORPHA:2512 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Polymicrogyria, Lissencephaly, Simplified gyral pattern,... |
OMIM:616212 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Anxiety, Dystonia |
OMIM:616398 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Progressive language deterioration, Self-mutilation, Mental deterioration, Low frustration tolera... |
ORPHA:163681 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Encephalocele |
ORPHA:65 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Abnormality of neuronal migration |
OMIM:614887 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability |
ORPHA:3198 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia |
ORPHA:370980 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Apathy, Exaggerated startle response, Dementia |
OMIM:272750 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tremor, Periventricular nodular heterotopia, Obesity, Memory impairment |
OMIM:619737 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly |
ORPHA:89844 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly |
OMIM:615219 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:93274 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Gray matter heterotopia, Anencephaly, Type II lissencephaly, Occipital encephalocele |
OMIM:615287 |
Stiff-Person Syndrome |
|
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety |
OMIM:184850 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Gray matter heterotopia |
OMIM:164180 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus |
ORPHA:1895 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2063 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Gray matter heterotopia, Encephalocele, Polymicrogyria, Type II lissencephaly, Agy... |
OMIM:614643 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration, Death in infancy, Meningocele |
ORPHA:2481 |
Fragile X Syndrome |
|
Periventricular heterotopia, Self-biting |
OMIM:300624 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... |
ORPHA:899 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Pachygyria, Cognitive impairment |
ORPHA:2065 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... |
ORPHA:2211 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Acromelic Frontonasal Dysostosis |
|
Periventricular nodular heterotopia, Encephalocele, Gray matter heterotopia |
OMIM:603671 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
Desmosterolosis |
|
Hydrocephalus, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... |
ORPHA:35107 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Impulsivity, Tremor, Aggressive behavior, Obesity |
OMIM:619312 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Mental deterioration, Periventricular heterotopia |
OMIM:618476 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Gray matter heterotopia |
OMIM:219730 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Failure to thrive, Periventricular heterotopia, Self-injurious behavior, Aggressive behavior, Irr... |
OMIM:619833 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Type II lissencephaly, Occipital encephal... |
ORPHA:370959 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Gray matter heterotopia |
ORPHA:2655 |
Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response |
OMIM:618201 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Gray matter heterotopia, Neonatal death |
OMIM:187600 |
Asparagine Synthetase Deficiency |
|
Simplified gyral pattern, Failure to thrive, Exaggerated startle response |
OMIM:615574 |
Joubert Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria, Encephalocele |
ORPHA:475 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2518 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Periventricular heterotopia, Anxiety, Self-injurious behavior |
OMIM:618929 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Failure to thrive, Exaggerated startle response, Abnormal cortical gyration, Cognitive impairment |
OMIM:617527 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Decreased body weight, Pachygyria |
ORPHA:255138 |
3C Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus, Death in infancy |
ORPHA:7 |
Tay-Sachs Disease |
|
Exaggerated startle response, Laryngeal dystonia, Depression, Anxiety, Memory impairment, Tremor,... |
ORPHA:845 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... |
ORPHA:2671 |
Man1B1-Cdg |
|
Resting tremor, Periventricular heterotopia, Truncal obesity |
ORPHA:397941 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration, Hydrocephalus, Encephalocele |
ORPHA:2318 |
Alg11-Cdg |
|
Failure to thrive, Gray matter heterotopia, Opisthotonus |
ORPHA:280071 |
Vici Syndrome |
|
Gray matter heterotopia, Death in infancy |
ORPHA:1493 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Pachygyria, Hydrocephalus, Polymicrogyria |
ORPHA:157 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Anxiety, Exaggerated startle response |
ORPHA:438216 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Lissencephaly |
OMIM:617822 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:617397 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Failure to thrive, Gray matter heterotopia, Small for gestational age, Frontal polymicrogyria, Pa... |
OMIM:620024 |
Van Maldergem Syndrome 1 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... |
OMIM:601390 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Polymicrogyria, Type II lissencephaly, Agyria, Lissencephaly, Pachy... |
OMIM:253800 |
Koolen-De Vries Syndrome |
|
Conspicuously happy disposition, Failure to thrive, Gray matter heterotopia, Impulsivity, Small f... |
OMIM:610443 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration, Self-injurious behavior |
ORPHA:261236 |
Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration |
OMIM:268800 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Death in infancy, Polymicrogyria |
OMIM:608836 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration, Self-injurious behavior |
ORPHA:192 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Pachygyria, Hydrocephalus, Polymicrogyria |
ORPHA:228308 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Gray matter heterotopia |
ORPHA:1860 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:619775 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Failure to thrive, Anxiety, Small for gestational age |
ORPHA:464311 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Nijmegen Breakage Syndrome |
|
Mental deterioration, Cachexia, Abnormality of neuronal migration |
ORPHA:647 |
Miller-Dieker Lissencephaly Syndrome |
|
Failure to thrive, Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria |
OMIM:247200 |
Van Maldergem Syndrome 2 |
|
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Holoprosencephaly |
|
Abnormality of neuronal migration, Dystonia, Failure to thrive in infancy, Cognitive impairment |
ORPHA:2162 |
Pagod Syndrome |
|
Death in infancy, Meningocele, Abnormality of neuronal migration, Encephalocele, Spina bifida |
ORPHA:991 |
Holoprosencephaly 14 |
|
Periventricular heterotopia, Gray matter heterotopia, Alobar holoprosencephaly, Hydrocephalus, Aq... |
OMIM:619895 |
Plaa-Associated Neurodevelopmental Disorder |
|
Failure to thrive, Dystonia, Exaggerated startle response, Abnormal cortical gyration |
ORPHA:521426 |
Joubert Syndrome With Hepatic Defect |
|
Abnormality of neuronal migration, Hydrocephalus, Occipital encephalocele |
ORPHA:1454 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Self-injurious behavior, Severe failure to thrive, Polymicrogyria, L... |
ORPHA:468631 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration, Failure to thrive, Tremor |
ORPHA:2754 |
6Q Terminal Deletion Syndrome |
|
Failure to thrive, Periventricular heterotopia, Gray matter heterotopia, Polymicrogyria, Abnormal... |
ORPHA:75857 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Periventricular Nodular Heterotopia 9 |
|
Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria |
OMIM:618918 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Self-injurious behavior |
ORPHA:314679 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia |
OMIM:618870 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Death in childhood, Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
Bohring-Opitz Syndrome |
|
Failure to thrive, Gray matter heterotopia |
OMIM:605039 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia |
ORPHA:26791 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Bilateral Perisylvian Polymicrogyria |
|
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... |
ORPHA:98889 |
Vici Syndrome |
|
Failure to thrive, Gray matter heterotopia |
OMIM:242840 |
Aicardi Syndrome |
|
Spina bifida, Pachygyria, Gray matter heterotopia, Polymicrogyria |
OMIM:304050 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Anencephaly, Arrhinencephaly, Abnormal cortical gyration, Severe hydroce... |
OMIM:236680 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration, Holoprosencephaly |
ORPHA:3186 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia |
ORPHA:261250 |
Opitz-Kaveggia Syndrome |
|
Hydrocephalus, Gray matter heterotopia |
OMIM:305450 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Abnormal cortical gyration |
OMIM:311200 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia |
OMIM:618733 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Failure to thrive, Gray matter heterotopia |
ORPHA:453499 |
Arima Syndrome |
|
Occipital meningocele, Gray matter heterotopia |
OMIM:243910 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Holoprosencephaly |
OMIM:618820 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Pachygyria, Gray matter heterotopia, Stillbirth |
OMIM:210710 |
Fontaine Progeroid Syndrome |
|
Periventricular heterotopia, Gray matter heterotopia, Hydrocephalus, Neonatal death, Death in inf... |
OMIM:612289 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Holoprosencephaly, Polymicrogyria, Simplified gyral pattern, Occipit... |
OMIM:615948 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia |
ORPHA:352665 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Periventricular heterotopia, Aggressive behavior, Self-mutilation |
OMIM:270400 |
Proteus Syndrome |
|
Cachexia, Gray matter heterotopia |
ORPHA:744 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
Orofaciodigital Syndrome Type 14 |
|
Periventricular heterotopia |
ORPHA:434179 |
Mowat-Wilson Syndrome |
|
Happy demeanor, Periventricular heterotopia, Decreased body weight, Anxiety, Polymicrogyria |
ORPHA:2152 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Happy demeanor, Periventricular heterotopia, Failure to thrive, Polymicrogyria |
ORPHA:261537 |
Genitopatellar Syndrome |
|
Periventricular heterotopia |
OMIM:606170 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Happy demeanor, Periventricular heterotopia, Failure to thrive, Polymicrogyria |
ORPHA:261552 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
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Small for gestational age |
OMIM:615834 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age |
ORPHA:352490 |