Autosomal Recessive Spastic Paraplegia Type 66 |
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Impaired vibration sensation in the lower limbs, Colpocephaly, Cerebellar hypoplasia, Difficulty ... |
ORPHA:401815 |
Lissencephaly 4 |
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Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:614019 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Cerebellar atrophy, Lateral ventricle dilatation, Dementia, Ataxia |
OMIM:615889 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
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Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Gait imbalance, Cerebella... |
ORPHA:488635 |
Central Neurocytoma |
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Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Paresthesia |
ORPHA:73256 |
Leukoencephalopathy With Vanishing White Matter 5 |
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Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle, Progressive neurologic... |
OMIM:620315 |
Alg13-Cdg |
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Abnormal lateral ventricle morphology, Cognitive impairment |
ORPHA:324422 |
Pontocerebellar Hypoplasia, Type 1A |
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Ataxia, Hypoplasia of the pons, Limb ataxia, Degeneration of anterior horn cells, Hypoplasia of t... |
OMIM:607596 |
Polymicrogyria Due To Tubb2B Mutation |
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Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricle dilatation, Cognitive impairment, A... |
ORPHA:300573 |
Pontocerebellar Hypoplasia, Type 12 |
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Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:618266 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
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Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Inability to walk, Pontocerebellar ... |
OMIM:617854 |
Band Heterotopia |
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Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
2,4-Dienoyl-Coa Reductase Deficiency |
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Cerebellar atrophy, Ataxia, Hydrocephalus, Choreoathetosis, Colpocephaly, Ventriculomegaly |
OMIM:616034 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Frontal lobe dementia, Lateral ventricle dilatation, Dementia, Gait disturbance, Abnormal upper m... |
OMIM:221770 |
Cach Syndrome |
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Cerebellar atrophy, Progressive neurologic deterioration, Dysmetria, Limb ataxia, Abnormal pons m... |
ORPHA:135 |
Holoprosencephaly 5 |
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Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Microphthalmia-Brain Atrophy Syndrome |
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Abnormal pons morphology, Cerebellar vermis atrophy, Lateral ventricle dilatation |
ORPHA:77299 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
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Abnormal cerebellum morphology, Lateral ventricle dilatation, Steppage gait, Distal sensory impai... |
OMIM:256850 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Congenital Hydrocephalus |
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Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Polyrrhinia |
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Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Joubert Syndrome 3 |
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Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia, Lateral ventricle dilatat... |
OMIM:608629 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... |
OMIM:618736 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Ataxia, Inability to walk, Cerebellar gliosis, Partial agenesis of the corpus callosum, Lateral v... |
ORPHA:79243 |
Pontocerebellar Hypoplasia, Type 13 |
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Cerebellar vermis hypoplasia, Hypoplasia of the pons, Inability to walk, Gait ataxia, Lateral ven... |
OMIM:618606 |
Craniosynostosis 6 |
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Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos... |
OMIM:616602 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
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Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal dentate nucleus m... |
OMIM:619517 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Colpocephaly |
OMIM:614870 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
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Colpocephaly, Cerebellar hypoplasia |
OMIM:618731 |
Hemiparkinsonism-Hemiatrophy Syndrome |
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Lateral ventricle dilatation, Difficulty walking |
ORPHA:306669 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar ... |
OMIM:617751 |
Intellectual Developmental Disorder, X-Linked 103 |
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Lateral ventricle dilatation |
OMIM:300982 |
Unilateral Hemispheric Polymicrogyria |
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Lateral ventricle dilatation |
ORPHA:101071 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Cerebellar... |
OMIM:613154 |
X-Linked Parkinsonism-Spasticity Syndrome |
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Lateral ventricle dilatation, Dilated third ventricle, Scissor gait |
ORPHA:363654 |
Adams-Oliver Syndrome 2 |
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Retrocerebellar cyst, Hydrocephalus, Cerebellar hypoplasia, Lateral ventricle dilatation |
OMIM:614219 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Dysmetria, At... |
ORPHA:572798 |
Hypotonia, Infantile, With Psychomotor Retardation |
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Lateral ventricle dilatation |
OMIM:616816 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
ORPHA:284417 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
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Lateral ventricle dilatation |
OMIM:619972 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Spina bifida o... |
OMIM:618291 |
Martsolf Syndrome 2 |
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Lateral ventricle dilatation |
OMIM:619420 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar hypoplasia, Dandy-Walker malfo... |
ORPHA:3078 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Colpocephaly, Hydrocephalus, Ataxia, Ventriculomegaly |
OMIM:619833 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
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Inability to walk, Lateral ventricle dilatation |
OMIM:615716 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Abnormal cerebellum morphology, Lateral ventricle dilatation, Tip-toe gait, Cerebellar hypoplasia... |
ORPHA:565624 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Spastic ataxia, Short attention span, Cerebellar vermis hypoplasia, Inability to walk, Partial ag... |
ORPHA:300570 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Short attention span, Ataxia, Inability to walk, Lateral ventricle dilatation, Dementia, Gait dis... |
ORPHA:2822 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Lateral ventricle dilatation |
OMIM:618330 |
Malan Overgrowth Syndrome |
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Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morp... |
ORPHA:397715 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
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Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Pseudo-Torch Syndrome 2 |
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Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:617397 |
Fanconi Anemia, Complementation Group I |
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Colpocephaly, Chiari malformation, Agenesis of corpus callosum |
OMIM:609053 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Memory impairment, Lateral ventricle dilatation, Progressive language deterioration, Frontotempor... |
OMIM:607485 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
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Lateral ventricle dilatation |
OMIM:618890 |
Slc35A2-Cdg |
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Cerebellar atrophy, Inability to walk, Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:356961 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Dysplastic corpus callosum, Lateral ventricle dilatation, Gait disturbance, Gait imbalance, Diffi... |
ORPHA:488627 |
Glutaric Acidemia I |
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Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Cog5-Cdg |
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Cerebellar atrophy, Lateral ventricle dilatation, Truncal ataxia |
ORPHA:263487 |
Halperin-Birk Syndrome |
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Inability to walk, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopro... |
OMIM:618651 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
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Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Tip-toe gait, Dilated thir... |
OMIM:617296 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
Distal Deletion 10Q |
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Ataxia, Unsteady gait, Lateral ventricle dilatation, Cerebellar hypoplasia, Attention deficit hyp... |
ORPHA:96148 |
Weiss-Kruszka Syndrome |
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Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished ability to concentr... |
OMIM:612863 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Dysplastic corpus callosum, Lateral ventricle dilatation, Attention deficit hyperactivity disorde... |
ORPHA:544488 |
D-2-Hydroxyglutaric Aciduria 1 |
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Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Paganini-Miozzo Syndrome |
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Lateral ventricle dilatation |
OMIM:301025 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Short attention span, Hydrocephalus, Chiari type I malformation, Lateral ventricle dilatation, At... |
OMIM:619575 |
Developmental And Epileptic Encephalopathy 31B |
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Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
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Lateral ventricle dilatation |
OMIM:619278 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Inability to walk, Colpocephaly, Cerebellar vermis hypoplasia, Ataxia |
OMIM:620083 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Cerebellar atrophy, Athetosis, Colpocephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... |
OMIM:614866 |
Spondyloenchondrodysplasia |
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Chorea, Abnormal lateral ventricle morphology, Ventriculomegaly |
ORPHA:1855 |
X-Linked Intellectual Disability, Wilson Type |
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Lateral ventricle dilatation |
ORPHA:85290 |
Den Hoed-De Boer-Voisin Syndrome |
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Short attention span, Ataxia, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:619229 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
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Lateral ventricle dilatation, Cognitive impairment |
ORPHA:2148 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:620113 |
Mosaic Trisomy 1 |
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Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebell... |
ORPHA:1692 |
Genitourinary And/Or Brain Malformation Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Holoprosencephaly, Attention defic... |
OMIM:618820 |
6Q Terminal Deletion Syndrome |
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Colpocephaly, Cerebellar hypoplasia, Dysmetria, Gait ataxia |
ORPHA:75857 |
Gabriele-De Vries Syndrome |
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Waddling gait, Lateral ventricle dilatation, Tip-toe gait, Attention deficit hyperactivity disorder |
OMIM:617557 |
16Q24.3 Microdeletion Syndrome |
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Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Aicardi Syndrome |
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Cerebellar vermis hypoplasia, Spina bifida, Partial agenesis of the corpus callosum, Choroid plex... |
OMIM:304050 |
Khan-Khan-Katsanis Syndrome |
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Colpocephaly, Cerebellar vermis hypoplasia, Ventriculomegaly |
OMIM:618460 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:619479 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
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Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617260 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Colpocephaly, Enlarged cerebellum |
ORPHA:477993 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Cerebellar atrophy, Lateral ventricle dilatation |
OMIM:618367 |
Holoprosencephaly 13, X-Linked |
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Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:301043 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hydrocephalus, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Progressive neurologic deterioration... |
OMIM:210710 |
Neurocardiofaciodigital Syndrome |
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Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
OMIM:619869 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
OMIM:263520 |
Smith-Lemli-Opitz Syndrome |
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Cerebellar atrophy, Partial agenesis of the corpus callosum, Hydrocephalus, Chiari type I malform... |
OMIM:270400 |
Osteopetrosis, Autosomal Recessive 7 |
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Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Choreoacanthocytosis |
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Impaired vibratory sensation, Bradyphrenia, Short attention span, Chorea, Mental deterioration, L... |
ORPHA:2388 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Chiari type I malformation, Abnormal lateral ventricle morphology, Chiari malformation, Social an... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Chiari type I malformation, Abnormal lateral ventricle morphology, Chiari malformation, Social an... |
ORPHA:353277 |
Congenital Disorder Of Glycosylation, Type Iim |
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Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:300896 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... |
ORPHA:261537 |
Genitopatellar Syndrome |
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Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |