Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety, Microcephaly |
OMIM:300387 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Frontotemporal cerebral atrophy, Dementia, Inappropriate behavior, Abnormal neuron morphology, Ap... |
ORPHA:412066 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Anxiety, Abnormal corpus striatum morphology, Striatal T2 hyperintensity |
ORPHA:494541 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Supernumerary naris, Dilatio... |
ORPHA:141091 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Depression, Abnormal lower motor neuron morphology, Abnormal cerebral ... |
ORPHA:100070 |
Alg13-Cdg |
|
Anteverted nares, Cognitive impairment, Abnormal lateral ventricle morphology |
ORPHA:324422 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... |
OMIM:619279 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Optic atrophy, Small cerebral cortex, Colpocephaly, Ventriculomegaly,... |
ORPHA:2185 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Schizencephaly, Cognitive impairment, Dysgenesis of the basal ganglia... |
ORPHA:300573 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Apathy, Lewy bodies, Hypersexuality, Disinhibition, Frontotemporal demen... |
OMIM:607485 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria, Wide nasal bridge |
OMIM:614870 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Dementia, Cognitive impairment, Apathy, Basal ganglia calcification, Anxiety, Depression |
OMIM:615483 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Anteverted nares, Dilation of lateral ventricles, Polymicrogyria |
OMIM:300982 |
Central Neurocytoma |
|
Hydrocephalus, Depression, Abnormal lateral ventricle morphology, Cerebral calcification |
ORPHA:73256 |
Unilateral Hemispheric Polymicrogyria |
|
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia |
ORPHA:101071 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Wide nose, Hypoplasia of the corpus callosum, Depressed nasal bridge, Abnormal lateral ventricle ... |
ORPHA:488635 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dilation of lateral ventricles, Cerebral cortical hemiatrophy, Depression |
ORPHA:306669 |
Alg2-Cdg |
|
Wide nasal bridge, Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintens... |
ORPHA:79326 |
Martsolf Syndrome 2 |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly, Broad nasal tip |
OMIM:619420 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomeg... |
OMIM:615219 |
Microphthalmia-Brain Atrophy Syndrome |
|
Inappropriate crying, Corpus callosum atrophy, Diffuse cerebral atrophy, Dilation of lateral vent... |
ORPHA:77299 |
Mental Retardation, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Prominent nasal bridge, Low hanging columella, Polymicrogyria, Antevert... |
OMIM:617751 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Akinetic mutism, Cerebral white matter atrophy, Cognitive impairment, Abnormal caudate nucleus mo... |
ORPHA:2148 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Depressed nasal bridge, Ventriculomegaly, Dilation of lateral ventricles, Anxi... |
ORPHA:420179 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Central diabetes insipidus, Dilation of ... |
OMIM:609637 |
Cach Syndrome |
|
Optic atrophy, Cognitive impairment, Apathy, Progressive neurologic deterioration, Dysgyria, Irri... |
ORPHA:135 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Dilation of lateral ventricles, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microc... |
OMIM:618890 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Inappropriate crying, Cerebral white matter hypoplasia, Depressed nasal bridge, Simplified gyral ... |
ORPHA:284417 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Optic nerve hypoplasia, Dilation of lateral ventricles, Agenesis of co... |
OMIM:618736 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Dementia, Hypothalamic atrophy, Orthostatic hypotension, Focal T2 hyperintense basal ganglia lesi... |
ORPHA:2822 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Cerebral atrophy, Self-injurious behavior, Leukoencephalopathy, Abnormal cerebral white matter mo... |
ORPHA:178469 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... |
OMIM:619517 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Short nose, Subependymal cysts, Wide nasal bridge, Anteverted nares, Dila... |
OMIM:610015 |
Bilateral Generalized Polymicrogyria |
|
Diffuse white matter abnormalities, Self-injurious behavior, Hypoplastic hippocampus, Dilation of... |
ORPHA:208447 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum |
OMIM:616816 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Anteverted nares, Polymicrogyria, Microcephaly |
OMIM:618731 |
Cardiofaciocutaneous Syndrome 4 |
|
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology |
OMIM:615280 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Basal ganglia gliosis, Ventricul... |
ORPHA:79243 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Dysgenesis of the hippocampus, Hypoplasia of the olfacto... |
ORPHA:300570 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Aggressive behavior, ... |
ORPHA:488627 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dandy-Walker malformation, Optic atrophy, Dilated fourth ventricle, Short nose, Recurrent upper r... |
ORPHA:3078 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Short nose, Ventriculomegaly, Anteverted nares, Hypoplasia of the corpus callosum, ... |
OMIM:618619 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Prominent nose, Prominent nasal tip, Abnormal caudate nucleus morphology, Pr... |
ORPHA:293725 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy |
ORPHA:363654 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Aggressive behavior, Impulsivity, Dilation of lateral ventricles, Hypopl... |
OMIM:618914 |
Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Hypoplastic hippocampus, Anteverted nares, Dilation of lateral ventric... |
OMIM:618606 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Deep white matter hypodensities, Optic disc pallor, Decreased nerve conduction velocity, Abnormal... |
ORPHA:565624 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts |
OMIM:600721 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebral white matter hypoplasia, Dilated fourth ventricle, Aggressive behavior, Leukoencephalopa... |
ORPHA:572798 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Optic nerve hypoplasia, Absent septum pellucidum, Decreased response to growth horm... |
OMIM:609053 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Self-injurious behavi... |
ORPHA:544488 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Cerebral atrophy, Dilation of l... |
OMIM:617296 |
Distal Monosomy 10Q |
|
Prominent nose, Facial diplegia, Aggressive behavior, Short nose, Wide nasal bridge, Prominent na... |
ORPHA:96148 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Short nose, Abnormal corpus callosum morphology, Cavum septum pellucidum, Lo... |
ORPHA:457279 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Dilation of lateral ventricles, Microcephaly |
OMIM:619278 |
Slc35A2-Cdg |
|
Dandy-Walker malformation, Cerebral white matter atrophy, Abnormal cerebral white matter morpholo... |
ORPHA:356961 |
Cog5-Cdg |
|
Prominent nose, Cerebral white matter atrophy, Wide nasal bridge, Diffuse cerebral atrophy, Dilat... |
ORPHA:263487 |
Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Cerebral calcification, Self-mutilation, Diffuse leukoencephalopathy, Irritability... |
OMIM:619487 |
Bainbridge-Ropers Syndrome |
|
Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge, Self-injurious behavior, Shor... |
OMIM:615485 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Dandy-Walker malformation, Depressed nasal bridge, Colpocephaly, Abnorma... |
ORPHA:397715 |
Choreoacanthocytosis |
|
Self-injurious behavior, Apathy, Frontal cortical atrophy, Irritability, Anxiety, Abnormal hippoc... |
ORPHA:2388 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Optic nerve hypoplasia, Ventriculomegaly, Anteverted nares, Hypoplasia of the corpu... |
ORPHA:261250 |
X-Linked Intellectual Disability, Wilson Type |
|
Dilation of lateral ventricles, Microcephaly |
ORPHA:85290 |
Paganini-Miozzo Syndrome |
|
Dilation of lateral ventricles |
OMIM:301025 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Prominent nasal tip, Aggressive behavior, Cavum septum pellucidum, Cereb... |
ORPHA:464738 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilation of lateral ventricles, Agenesis of corpus callosum |
OMIM:300952 |
Prader-Willi Syndrome Due To Translocation |
|
Underdeveloped nasolabial fold, Skin-picking, Prominent nose, Broad nasal tip, Happy demeanor, Sh... |
ORPHA:177907 |
Halperin-Birk Syndrome |
|
Colpocephaly, Optic atrophy, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618651 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Hydrocephalus, Anteverted nares, Dilation of lateral ventricles, Agenesis of corp... |
OMIM:612863 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Depressed nasal bridge, Self-injurious behavior, Hydrocephalus, Dilation... |
OMIM:619575 |
Spondyloenchondrodysplasia |
|
Cerebral calcification, Ventriculomegaly, Abnormal lateral ventricle morphology, Abnormal periven... |
ORPHA:1855 |
Aicardi Syndrome |
|
Dilated third ventricle, Optic atrophy, Partial agenesis of the corpus callosum, Choroid plexus c... |
OMIM:304050 |
Holoprosencephaly 13, X-Linked |
|
Aplasia of the nose, Septo-optic dysplasia, Colpocephaly, Optic nerve hypoplasia, Agenesis of cor... |
OMIM:301043 |
Mosaic Trisomy 1 |
|
Depressed nasal bridge, Wide nasal bridge, Polymicrogyria, Dilation of lateral ventricles, Agenes... |
ORPHA:1692 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly, Small pituitary gland, Dilation of l... |
OMIM:619479 |
Osteopetrosis, Autosomal Recessive 7 |
|
Optic nerve compression, Optic atrophy, Hydrocephalus, Dilation of lateral ventricles |
OMIM:612301 |
Glutaric Acidemia I |
|
Dilation of lateral ventricles |
OMIM:231670 |
Khan-Khan-Katsanis Syndrome |
|
Colpocephaly, Short nose, Microcephaly |
OMIM:618460 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:309801 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Dysplastic corpus callosum, Colpocephaly, Short nose, Absent septum pe... |
OMIM:618820 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Narrow nasal tip, Cerebral white matter hypoplasia, Colpocephaly, Wide nasal bridge, Anteverted n... |
ORPHA:477993 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear/anxiety-related behavior, Convex nasal ridge, Agoraphobia, Self-injurious behavior,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear/anxiety-related behavior, Convex nasal ridge, Agoraphobia, Self-injurious behavior,... |
ORPHA:353277 |
Kohlschutter-Tonz Syndrome-Like |
|
Dilation of lateral ventricles, Secondary microcephaly, Microcephaly, Ventriculomegaly |
OMIM:619229 |
Weaver Syndrome |
|
Dilation of lateral ventricles, Depressed nasal bridge, Absent septum pellucidum |
OMIM:277590 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic atrophy, Depressed nasal ridge, Optic disc pallor, Depressed nasal bridge, Aggressive behav... |
OMIM:607872 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Dysplastic corpus callosum, Depressed nasal bridge, Progressive ventriculomegaly, ... |
ORPHA:500150 |
6Q Terminal Deletion Syndrome |
|
Abnormal cerebral cortex morphology, Colpocephaly, Polymicrogyria, Abnormal cerebral white matter... |
ORPHA:75857 |
Genitopatellar Syndrome |
|
Prominent nose, Colpocephaly, Wide nose, Prominent nasal bridge, Agenesis of corpus callosum, Mic... |
OMIM:606170 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Wide nasal bridge, Cerebral atrophy, Dilation of lateral ventricles, Hypoplasia of the corpus cal... |
OMIM:300896 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Dilation of lateral ventricles, Pachygyria |
OMIM:263520 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Focal hypointensity of cerebral white matter on MRI, Aganglionic megacolon, Happy demeanor, Cereb... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Optic atrophy, Focal hypointensity of cerebral white matter on MRI, Aganglionic megacolon, Happy ... |
ORPHA:261552 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Hydrocephalus, Anteverted nares, Dilation ... |
OMIM:619534 |