Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... |
ORPHA:141091 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Anteverted nares, Cognitive impairment |
ORPHA:324422 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge |
OMIM:614019 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Euphoria, Frontal lobe dementia, Lateral ventricle dilatation, Inappropriate... |
OMIM:221770 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:250972 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle, Progressive neurologic deterioration |
OMIM:620315 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus, Depression |
ORPHA:73256 |
Congenital Hydrocephalus |
|
Bulbous nose, Hydrocephalus, Optic atrophy, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Dementia, Depression |
OMIM:615889 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... |
OMIM:607485 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Anteverted nares |
OMIM:300982 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Wide nasal bridge |
OMIM:614870 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Anteverted nares, Depressed nasal bridge, Lateral ventricle dilatation,... |
OMIM:613443 |
Band Heterotopia |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Depression |
ORPHA:306669 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge |
ORPHA:488635 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Cognitive impairment, Attention deficit hyperactivity disorder, Abn... |
ORPHA:300573 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Lateral ventricle dilatation, Bruxism, Short nose |
OMIM:615716 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Broad nasal tip |
OMIM:619420 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Aggressive behavior, Hydrocephalus, Optic atrophy, Irritability, Self-inj... |
OMIM:619833 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Developmental And Epileptic Encephalopathy 31B |
|
Optic atrophy, Irritability, Colpocephaly, Choking episodes, Agenesis of corpus callosum, Ventric... |
OMIM:620352 |
Holoprosencephaly 5 |
|
Lateral ventricle dilatation, Anteverted nares, Hydrocephalus, Depressed nasal bridge |
OMIM:609637 |
Cach Syndrome |
|
Progressive neurologic deterioration, Optic atrophy, Irritability, Lateral ventricle dilatation, ... |
ORPHA:135 |
Pontocerebellar Hypoplasia, Type 1A |
|
Degeneration of anterior horn cells, Lateral ventricle dilatation, Dysphagia |
OMIM:607596 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Depressed nasal bridge |
OMIM:619955 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Optic nerve hypoplasia, Dandy-Walker m... |
OMIM:618736 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Optic nerve hypoplasia |
OMIM:618890 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Lateral ventric... |
OMIM:619995 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Colpocephaly, Optic atrophy, Hydrocephalus, Ventriculomegaly |
OMIM:616034 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Tongue thrusting |
ORPHA:77299 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Anteverted nares, Prominent nasal bridge, Lateral ventri... |
OMIM:617751 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Bulbous nose, Lateral ventricle dilatation |
OMIM:618330 |
Glutamine Deficiency, Congenital |
|
Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Subependymal cysts, Lateral ventricl... |
OMIM:610015 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Alg2-Cdg |
|
Lateral ventricle dilatation, Wide nasal bridge |
ORPHA:79326 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Impulsivity, Lateral ventricle dilatation, Attention deficit ... |
OMIM:617854 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Anteverted nares |
OMIM:618731 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Bulbous nose, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation |
OMIM:614219 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Orthostatic hypotension, Mental deterioration, Memory impairment, Lateral v... |
ORPHA:2822 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Optic atrophy, Colpocephaly, Agenesis o... |
OMIM:615219 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Recurrent upper respiratory tract infections, Optic atrophy, Lateral ve... |
ORPHA:3078 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... |
ORPHA:208447 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Irritability, Lateral ventricle dilatation, Agitation, Cognitive impairment, Dysphagia |
ORPHA:2148 |
Weiss-Kruszka Syndrome |
|
Anteverted nares, Colpocephaly, Short nose, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Self-injurious behavior, Lateral vent... |
OMIM:620075 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Anteverted nares, Wide nasal bridge |
OMIM:608629 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Bulbous nose, Lateral ventricle dilatation, Short nose |
OMIM:614105 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Lateral ventricle dilatation, Depressed nasal bridge, Ventriculomegaly |
ORPHA:420179 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Prominent nose, Aggressive behavior, Lateral ventricle dilatation, Dilated third ventricle, Agene... |
OMIM:619244 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Facial palsy |
OMIM:256850 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... |
OMIM:618914 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Prominent nose, Bulbous nose, Choroid plexus cyst, Depressed nasal tip, Lateral ventricle dilatat... |
ORPHA:293725 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Dilated third ventr... |
OMIM:613154 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Depressed nasal bridge, Hydrocephalus, Head-banging, Self-injurious behavio... |
OMIM:619575 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:616602 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Anteverted nares, Dandy-Walker malformation |
OMIM:618606 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly |
OMIM:620156 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Short attention span, Anteverted nares, Hydrocephalus, Lateral ventricle dilatation, Diminished a... |
OMIM:612863 |
Halperin-Birk Syndrome |
|
Optic atrophy, Pseudobulbar paralysis, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618651 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Lateral ventricle dilatation, Low frustration tolerance, Abnormal temper tan... |
ORPHA:457279 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Dysplastic corpus callosum, Bulbous nose, Self-injurious behavior, Lateral v... |
ORPHA:544488 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Optic nerve dysplasia, Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ... |
OMIM:617296 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Short attention span, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Lateral ve... |
ORPHA:300570 |
16Q24.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Colpocephaly, Dysphagia, Ventriculomegaly |
ORPHA:261250 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle dilatation, Dysphagia, Ventric... |
ORPHA:488627 |
Bainbridge-Ropers Syndrome |
|
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:609053 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpu... |
OMIM:620113 |
Distal Deletion 10Q |
|
Prominent nasal bridge, Aggressive behavior, Prominent nose, Wide nasal bridge, Facial diplegia, ... |
ORPHA:96148 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Aggressive behavior, Wide nasal bridge, Lateral ventricle dilatation, D... |
ORPHA:572798 |
Choreoacanthocytosis |
|
Compulsive behaviors, Decreased amplitude of sensory action potentials, Self-mutilation of tongue... |
ORPHA:2388 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
Cog5-Cdg |
|
Lateral ventricle dilatation, Wide nasal bridge, Neurogenic bladder, Prominent nose |
ORPHA:263487 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Head-banging, Lateral ven... |
ORPHA:177907 |
Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Ventriculomegaly, Lateral ventricle dilatation, Agitation, Dysphagia, Abnor... |
OMIM:619229 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Depressed nasal bridge, Lateral ventricle dilatation, Colpocephaly, Abnormal op... |
ORPHA:397715 |
Aicardi-Goutieres Syndrome 9 |
|
Irritability, Lateral ventricle dilatation, Optic atrophy, Self-mutilation |
OMIM:619487 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Low hanging columella |
OMIM:617260 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Anteverted nares, Aggressive behavior, Lateral ventricle dilatation, Prominent nasal tip, Dilated... |
ORPHA:464738 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Anteverted nares, Facial palsy, Broad nasal tip, Abnormal repetitive mannerisms, B... |
OMIM:615873 |
Glutaric Acidemia I |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Ventriculomegaly |
ORPHA:1855 |
Osteopetrosis, Autosomal Recessive 7 |
|
Lateral ventricle dilatation, Optic nerve compression, Optic atrophy, Hydrocephalus |
OMIM:612301 |
Gabriele-De Vries Syndrome |
|
Lateral ventricle dilatation, Attention deficit hyperactivity disorder, Broad nasal tip |
OMIM:617557 |
Khan-Khan-Katsanis Syndrome |
|
Colpocephaly, Short nose, Ventriculomegaly, Dysphagia |
OMIM:618460 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Dysplastic corpus callosum, Colpocephaly, Attention deficit hyperactiv... |
OMIM:618820 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Colpocephaly, Aplasia of the nose, Agenesis of cor... |
OMIM:301043 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Colpocephaly, Optic atrophy, Agenesis of corpus callosum, Optic nerve dysplasia |
OMIM:614866 |
Aicardi Syndrome |
|
Anteverted nares, Partial agenesis of the corpus callosum, Optic disc coloboma, Choroid plexus cy... |
OMIM:304050 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Colpocephaly, Narrow nasal ridge |
OMIM:620083 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Lateral ventricle dilatation, Dysphagia |
OMIM:618367 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly |
OMIM:619479 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly, Anteverted nares, Wide nasal bridge, Narrow nasal tip |
ORPHA:477993 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Aggressive behavi... |
OMIM:270400 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Lateral ventricle dilatation, Narrow naris, Underdeveloped nasal alae |
OMIM:614098 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Lateral ventricle dilatation, Overhanging nasal tip |
OMIM:619869 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus |
OMIM:309801 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Progressive neurologic deterioration, Prominent nose, Partial agenesis of the c... |
OMIM:210710 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Depressed nasal bridge, Aggressive behavior, Hydrocephalus, Optic disc colobom... |
OMIM:607872 |
Genitopatellar Syndrome |
|
Wide nose, Prominent nasal bridge, Prominent nose, Wide nasal bridge, Colpocephaly, Dysphagia, Ag... |
OMIM:606170 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, Wide n... |
ORPHA:500150 |
6Q Terminal Deletion Syndrome |
|
Colpocephaly |
ORPHA:75857 |