Spastic Paraplegia 88, Autosomal Dominant |
|
Sensory ataxia, Distal sensory impairment, Attention deficit hyperactivity disorder, Thin corpus ... |
OMIM:620106 |
Microcephaly 19, Primary, Autosomal Recessive |
|
Failure to thrive in infancy, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus ca... |
OMIM:617800 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Cerebral atrophy, Microcephaly |
OMIM:614023 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Ataxia, Progressive neurologic deterioration, Megalencephaly, Diffuse white matter abnormalities,... |
OMIM:613925 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Microcephaly, Simplified gyral pattern, Small cerebral cortex, Abnormal cerebral morphology, Abno... |
ORPHA:329228 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder... |
OMIM:618709 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Short stature, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex,... |
OMIM:608716 |
Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Reduced cerebral white matter volume, Cortical dysplasia, Simplified gyral pattern, Hypoplasia of... |
OMIM:615763 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... |
OMIM:604213 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... |
ORPHA:500166 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly |
OMIM:615938 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Postnatal growth retardation, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Bowen-Conradi Syndrome |
|
Short stature, Microcephaly, Cryptorchidism, Severe postnatal growth retardation, Severe intraute... |
ORPHA:1270 |
Microcephaly, Seizures, And Developmental Delay |
|
Ventriculomegaly, Ataxia, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus callos... |
OMIM:613402 |
Microlissencephaly |
|
Thick cerebral cortex, Cerebral dysmyelination, Microcephaly, Simplified gyral pattern, Neuronal ... |
ORPHA:1083 |
Porencephaly |
|
Porencephalic cyst, Ventriculomegaly |
ORPHA:2940 |
Polymicrogyria, Bilateral Temporooccipital |
|
Polymicrogyria, Delirium, Ventriculomegaly |
OMIM:612691 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom... |
OMIM:615937 |
Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly, Cerebral atrophy |
OMIM:612900 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Microcephaly, Cerebral atrophy, Lissencephaly, Hypoplasia of the corpus callosum, Cerebral white ... |
OMIM:618730 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:2732 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Short stature, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral white matter hyp... |
ORPHA:3207 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Abnormal cerebral white matter morphology, Lissencephaly, Secondary... |
OMIM:607432 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Basal ganglia calcification, Paresthesia |
OMIM:615361 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Thick cerebral cortex, Lissencephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:618677 |
Lissencephaly 3 |
|
Ataxia, Microcephaly, Polymicrogyria, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyri... |
OMIM:611603 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Diffuse cerebral atrophy, Ataxia, Confusion, Gait ataxia, Dementia, Mental deterioration, Cerebra... |
OMIM:615362 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Unilateral cryptorchidism, Attention deficit hyperactivity disorder, Agenesis of ... |
OMIM:618286 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se... |
OMIM:620317 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Short stature, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus callosum, P... |
OMIM:617090 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Ventriculomegaly, Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Progressive microcephaly |
OMIM:616486 |
Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Short stature |
ORPHA:2466 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly |
ORPHA:171703 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Microcephaly, Cortical dysplasia, Impaired proprioception, Failure ... |
ORPHA:319199 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Pachygyria, Agyria, Ventriculomegaly |
ORPHA:1084 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Failure to thrive, Ataxia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Per... |
OMIM:619701 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Ventriculomegaly, Short stature, Gait ataxia, Hypoplasia of the corpus callosum, Cerebral cortica... |
OMIM:617862 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Failure to thrive, Ataxia, Microcephaly |
OMIM:618276 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
Juvenile Huntington Disease |
|
Neuronal loss in basal ganglia, Ataxia, Chorea, Gait ataxia, Weight loss, Abnormal cerebral white... |
ORPHA:248111 |
Bonnemann-Meinecke-Reich Syndrome |
|
Cerebral calcification, Short stature, Ventriculomegaly, Microcephaly |
ORPHA:1261 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Cerebral calcification, Ataxia, Microcephaly, Leukoencephalopathy, Athetosis, Focal white matter ... |
OMIM:612951 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Ataxia, Ventriculomegaly, Microcephaly |
OMIM:618383 |
Hsd10 Disease |
|
Short attention span, Ataxia, Microcephaly, Postnatal growth retardation, Frontotemporal cerebral... |
ORPHA:391417 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ventriculomegaly, Ataxia, Periventricular cysts, Hypoplasia of the corpus callosum, Decreased bod... |
ORPHA:255138 |
Epilepsy, Progressive Myoclonic, 9 |
|
Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly, Gait ataxia |
OMIM:616540 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:619501 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly |
OMIM:616570 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Progressive neurologic deterioration, Failure to thrive, Ventriculomegaly, Dysmetria |
OMIM:618251 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Cerebral dysmyelination, Progre... |
OMIM:611722 |
Microcephaly-Cardiomyopathy Syndrome |
|
Short stature, Microcephaly, Cognitive impairment, Intrauterine growth retardation, Ventriculomegaly |
ORPHA:2515 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Cerebral calcification, Ventriculomegaly, Microcephaly |
ORPHA:1980 |
Masa Syndrome |
|
Short stature, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr... |
OMIM:620200 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Cerebral ... |
ORPHA:85179 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:1568 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Growth delay, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Growth delay, Pachygyria, Ventriculomegaly, Microcephaly |
OMIM:617613 |
Narp Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Short stature, Ataxia, Progressive gait ataxia, Deme... |
ORPHA:644 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia |
ORPHA:599373 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Slender build, Frontal cortical atrophy, Short stature, Ventriculomegaly |
OMIM:300699 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... |
ORPHA:171680 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Corpus callosum atrophy, Ventriculomegaly, Cerebral cortical atrophy, Leukoencephalopathy |
OMIM:620314 |
Autosomal Recessive Primary Microcephaly |
|
Short stature, Microcephaly, Growth delay, Hypoplasia of the frontal lobes, Pachygyria, Agenesis ... |
ORPHA:2512 |
Mehmo Syndrome |
|
Small for gestational age, Microcephaly, Obesity, Gait ataxia, Birth length less than 3rd percent... |
OMIM:300148 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Reduced cerebral white matter volume, Corpus callosum atrophy, Hippocampal atrophy, Thin corpus c... |
OMIM:301107 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Leukoencephalopathy, Dementia, Cognitive impairment, Ventric... |
OMIM:603472 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Caudate atrophy, Ataxia, Temporal cortical atrophy, Attention deficit hyperactivity disorder, Fro... |
ORPHA:137831 |
3-Hydroxyisobutyric Aciduria |
|
Cerebral calcification, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Intrauterine gro... |
ORPHA:939 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ataxia, Short stature, Large for gestational age, Growth delay, Ventriculomegaly |
OMIM:616116 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weight, Mi... |
OMIM:614833 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Dysplastic corpus callosum, Hypoesthesia, Obesity, Memory impairmen... |
OMIM:619737 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Short stature, Simplified gyral pattern, Thick corpus callosum, Truncal ataxia, Ventriculomegaly |
OMIM:618273 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Ataxia, Small for gestational age, Microcephaly, Partial agenesis of the corpus... |
ORPHA:79243 |
Congenital Toxoplasmosis |
|
Cerebral calcification, Failure to thrive in infancy, Microcephaly, Hydrocephalus, Cognitive impa... |
ORPHA:858 |
Kohlschutter-Tonz Syndrome |
|
Ataxia, Microcephaly, Cerebral atrophy, Dementia, Ventriculomegaly |
OMIM:226750 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Dementia, Ataxia, Ventriculomegaly |
OMIM:206570 |
Brain Small Vessel Disease 2 |
|
Schizencephaly, Porencephalic cyst, Growth delay, Polymicrogyria, Ventriculomegaly |
OMIM:614483 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Short stature, Microcephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:615286 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Ventriculomegaly, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpus ca... |
OMIM:617977 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Ataxia, Ventriculomegaly, Microcephaly |
OMIM:619150 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Corpus callosum atrophy, Impaired distal vibration sensation, Dysmetria, Cognitive impairment, Ve... |
OMIM:616680 |
Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Ataxia, Microcephaly, Attention deficit hyperactivity disorder, Pachygyria, Abn... |
ORPHA:467166 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Short stature, Microcephaly, Overweight, Hypoplasia of the corpus callosum, Abnormal periventricu... |
OMIM:614066 |
Macdermot-Winter Syndrome |
|
Intrauterine growth retardation, Ventriculomegaly, Microcephaly |
OMIM:247990 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Nasu-Hakola Disease |
|
Cerebral calcification, Hydrocephalus, Chorea, Frontal lobe dementia, Memory impairment, Cerebral... |
ORPHA:2770 |
Huntington Disease-Like 1 |
|
Chorea, Abnormal basal ganglia morphology, Dysmetria, Gait ataxia, Weight loss, Dementia, Cogniti... |
ORPHA:157941 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Progressive neurologic deterioration, Cryptorchidism, Leukoencephalopathy, Aplasia/Hypoplasia of ... |
ORPHA:88639 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Microcephaly, Growth delay, Hypoplasia of the corpus callosum, Intrauterine growth... |
ORPHA:1495 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Ataxia, Short stature, Progressive psychomotor deterioration, Growth delay, Failure to thrive, Ve... |
ORPHA:251009 |
Peho-Like Syndrome |
|
Ventriculomegaly, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Polymicrogyria, P... |
OMIM:617507 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Colpocephaly, Hypoplasia ... |
OMIM:616034 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Cognitive impairment, Frontal cortical atrophy, Ventriculomegaly, Fatigable weakness of skeletal ... |
ORPHA:206559 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Microcephaly, Postnatal growth retardation, Truncal obesity, Abdominal obesity |
OMIM:618160 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Microcephaly, Cerebral atrophy, Basal ganglia cysts, Choreoathetosis, ... |
OMIM:312170 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Athetosis, Intrauterine growth retardation, Cerebral cortical atrophy, Ventriculomegaly |
OMIM:619922 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Ataxia, Dysmetria, Paresthesia, Intrauterine growth retardation, Cerebral cortical... |
ORPHA:48431 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Small for gestational age, Intrauterine growth retardation |
OMIM:620135 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Microcephaly, Impaired pain sensation, Chorea, Cerebral atrophy, Gait ataxia, Hypoplasia of the c... |
ORPHA:500180 |
Joubert Syndrome 31 |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Truncal ataxia |
OMIM:617761 |
Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Short stature, Microcephaly, Postnatal growth retardation, Decreased body w... |
OMIM:608747 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:1188 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the corpus ca... |
OMIM:304100 |
Trisomy 5P |
|
Short stature, Obesity, Ventriculomegaly |
ORPHA:1742 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Microcephaly, Attention deficit hyperactivity disorder, Failure to thrive, Ventriculomegaly |
OMIM:619556 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Failure to ... |
OMIM:618603 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Frontal polymicrogyria, Cerebral dysmyelination, Perisylvian polymicrogyria, Dysmetria, Truncal a... |
OMIM:606854 |
Microhydranencephaly |
|
Short stature, Microcephaly, Growth delay, Athetosis, Hydranencephaly, Pachygyria, Agenesis of co... |
OMIM:605013 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Microcephaly, Chorea, Cerebral atrophy, Athetosis, Hypoplasia of the corpus callosum, Ventriculom... |
OMIM:617493 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Fatigable weakness of skeletal muscles, Microcephaly, Cryptorchidism, Hypoplasia of the corpus ca... |
ORPHA:370968 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cerebral calcification, Ataxia, Short stature, Cachexia, Microcephaly, Ventriculomegaly |
ORPHA:1933 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Microcephaly, Chorea, Cerebral atrophy, Hypoplasia of the corpus callosum, Polymicrogyria, Ventri... |
OMIM:614254 |
Gm2 Gangliosidosis, Ab Variant |
|
Short stature, Postnatal growth retardation, Chorea, Cerebral atrophy, Cognitive impairment, Punc... |
ORPHA:309246 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Progressive neurologic deterioration, Cerebral dysmyelination, Microc... |
OMIM:252650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Short stature, Cryptorchidism, Cortical dysplasia, Simplified gyral pattern, Gait ataxia, Abnorma... |
OMIM:300354 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Ventriculomegaly, Obesity, Hypoplasia of the corpus callosum |
ORPHA:521390 |
Cornelia De Lange Syndrome 2 |
|
Short stature, Microcephaly, Postnatal growth retardation, Cognitive impairment, Intrauterine gro... |
OMIM:300590 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Microcephaly, Cerebral atrophy, Thin corpus callosum, Ventriculomegaly |
OMIM:619851 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Ataxia, Short stature, Ventriculomegaly |
OMIM:230650 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, Ataxia, T2 hypointense basal ganglia, Abnorma... |
ORPHA:25 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Microcephaly, Cryptorchidism, Chorea, Abnormal cerebral white matter morphology, Progressive cere... |
ORPHA:485350 |
Williams-Beuren Region Duplication Syndrome |
|
Short stature, Small for gestational age, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus... |
OMIM:609757 |
Christianson Syndrome |
|
Cachexia, Microcephaly, Gait ataxia, Aplasia/Hypoplasia of the corpus callosum, Truncal ataxia, C... |
ORPHA:85278 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Short stature, Small for gestational age, Microcephaly, Cryptorchidism... |
OMIM:300957 |
Galloway-Mowat Syndrome 5 |
|
Periventricular leukomalacia, Ataxia, Primary microcephaly, Pachygyria, Ventriculomegaly |
OMIM:617731 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Short stature, Dysmetria, Growth delay, Progressive cerebellar ataxia... |
ORPHA:363429 |
6Q25 Microdeletion Syndrome |
|
Short stature, Microcephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:251056 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral pattern, Abnormal ce... |
OMIM:613153 |
Hemimegalencephaly |
|
Pachygyria, Hemimegalencephaly, Hyperintensity of cerebral white matter on MRI, Focal cortical dy... |
ORPHA:99802 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly, Type II lissencephaly |
OMIM:614830 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cognitive impairment, Intraute... |
OMIM:615330 |
Lissencephaly 6 With Microcephaly |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha... |
OMIM:616212 |
Oxoglutarate Dehydrogenase Deficiency |
|
Gait ataxia, Ventriculomegaly, Dysmetria |
OMIM:203740 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Ataxia, Postnatal growth retardation, Dysplastic... |
ORPHA:357058 |
Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Cerebral calcification, Hydrocephalus, Cerebral atrophy, Intrauterine growth re... |
OMIM:610333 |
Developmental And Epileptic Encephalopathy 99 |
|
Microcephaly, Perisylvian polymicrogyria, Thick corpus callosum, Frontotemporal cerebral atrophy,... |
OMIM:619606 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Ventriculomegaly, Cerebral atrophy, Microcephaly |
OMIM:617051 |
Pontocerebellar Hypoplasia Type 2 |
|
Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Choreoathetosis, Hypopl... |
ORPHA:2524 |
Baraitser-Winter Syndrome 2 |
|
Short stature, Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ve... |
OMIM:614583 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Growth del... |
OMIM:620156 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Postnatal growth retardation, Ventriculomegaly, Short stature, Hypoplasia of the corpus callosum |
OMIM:620210 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Decreased ... |
OMIM:615433 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ve... |
OMIM:618577 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Short stature, Microcephaly, Attention deficit hyperactivity disorder, Decr... |
OMIM:618342 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Small for gestational age, Progressive neurologic deterioration, Microc... |
OMIM:214150 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... |
OMIM:613443 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... |
OMIM:616900 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Ataxia, Failure to thrive in infancy, Ventriculomegaly, Microcephaly |
OMIM:611182 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Bilateral Frontoparietal Polymicrogyria |
|
Cortical dysplasia, Ventriculomegaly, Cerebral dysmyelination, Microcephaly |
ORPHA:101070 |
Rasmussen Subacute Encephalitis |
|
Abnormal basal ganglia morphology, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, C... |
ORPHA:1929 |
Lissencephaly 8 |
|
Ventriculomegaly, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Type I... |
OMIM:617255 |
Craniofacial Dyssynostosis With Short Stature |
|
Short stature, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corp... |
OMIM:218350 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Type II lissencephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Intrauterine gro... |
ORPHA:272 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Ventriculomegaly, Microcephaly |
ORPHA:2643 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Failure to thrive in... |
ORPHA:488627 |
Developmental And Epileptic Encephalopathy 9 |
|
Attention deficit hyperactivity disorder, Ventriculomegaly |
OMIM:300088 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Ventriculomegaly, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the cor... |
OMIM:615760 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Ventriculomegaly, Microcephaly, Neuronal loss in the cerebral cortex, Pachygyria, Agenesis of cor... |
ORPHA:168486 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Short stature, Microcephaly, Dysplastic corpus callosum, Simplified gyral patt... |
OMIM:619179 |
Baraitser-Winter Syndrome 1 |
|
Failure to thrive, Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Lis... |
OMIM:243310 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617127 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Limb ataxia, Truncal ataxia, Mental deterioration, Intrauterine growth retardation, Ventriculomegaly |
OMIM:619051 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Short stature, Ataxia, Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, D... |
ORPHA:505237 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Choreoathetosis, Hypoplasia of the cor... |
ORPHA:431361 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Failure to thrive, Short stature, Ataxia, Microcephaly, Hydrocephalus, Colpocephaly, Intrauterine... |
OMIM:619833 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Failure to thrive, Ataxia, Ventriculomegaly |
OMIM:618228 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Reduced cerebral white matter volume, Progressive neurologic deteriora... |
OMIM:618253 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Growth delay, Choreoathetosis, I... |
ORPHA:765 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Microcephaly, Cryptorchidism, Disproportionate short-limb short stature, Intrauterine growth reta... |
ORPHA:2772 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Choreoathetosis, Ventriculomegaly, Microcephaly |
OMIM:308350 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Short stature, Microcephaly, Decreased body weight, Focal T2 hyperintense basal ganglia lesion, T... |
OMIM:607906 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617967 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Megalencephaly, Periventricular white matter hyperintensities, Cerebral white matter hypoplasia, ... |
ORPHA:500533 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Ventriculomegaly, Type II lissencephaly |
ORPHA:324416 |
Hoyeraal-Hreidarsson Syndrome |
|
Cerebral calcification, Short stature, Ataxia, Microcephaly, Intrauterine growth retardation, Fai... |
ORPHA:3322 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder |
OMIM:618974 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Cortical dysplasia, Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:457260 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Microcephaly, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, ... |
OMIM:225790 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Cognitive impairment, Hypoplasia of the corpus callosum, Failure to thrive, Agenesis of corpus ca... |
OMIM:613735 |
Hogue-Janssen Syndrome 2 |
|
Microcephaly, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corpus c... |
OMIM:616362 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Diffuse cerebral atrophy, Ataxia, Leukoencephalopathy, Cerebral atrophy, Dysmetria, Athetosis, In... |
OMIM:617710 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Microcephaly, Perisylvian polymicrogyria, Dysmetria, Growth delay, Hypoplasia of the corpus callo... |
OMIM:619121 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Ventriculomegaly, Decreased body weight, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:300958 |
Optic Atrophy 11 |
|
Short stature, Ataxia, Microcephaly, Dysmetria, Leukoencephalopathy, Athetosis, Attention deficit... |
OMIM:617302 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Ventriculomegaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum |
ORPHA:85277 |
Moyamoya Disease |
|
Ventriculomegaly |
ORPHA:2573 |
Alg8-Cdg |
|
Ataxia, Small for gestational age, Leukoencephalopathy, Hypoplasia of the corpus callosum, Intrau... |
ORPHA:79325 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Reduced cerebral white matter volume, Megalencephaly, Large for gestational age, Cryp... |
OMIM:616638 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cerebral white matter atrophy, Failure to thrive, Short stature, Microcephaly, Dilated third vent... |
ORPHA:500055 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Linear Verrucous Nevus Syndrome |
|
Mental deterioration, Ventriculomegaly, Dandy-Walker malformation, Aplasia/Hypoplasia of the corp... |
ORPHA:2611 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly, Short stature |
OMIM:619423 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Growth delay, Failure to thrive, Cerebra... |
OMIM:619272 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Short stature, Microcephaly, Cryptorchidism, Hypoplasia of the corpus callosum, Decreased body we... |
OMIM:617452 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Failure to thrive, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Cryptorchidism, Simplified gyral pattern, Ventriculomegaly, Primary microcephaly |
OMIM:619180 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Attention deficit hyperactivity disorder, Failure to t... |
OMIM:617788 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Severe short stature, Agenesis of corpus callosum |
OMIM:616854 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Short stature, Ataxia, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Ventricul... |
OMIM:618547 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Short stature, Microcephaly, Impaired pain sensation... |
ORPHA:314389 |
Methylcobalamin Deficiency Type Cble |
|
Microcephaly, Postnatal growth retardation, Hydrocephalus, Abnormal cerebral white matter morphol... |
ORPHA:2169 |
Lissencephaly, X-Linked, 2 |
|
Lissencephaly, Pachygyria, Agenesis of corpus callosum, Decreased testicular size, Ventriculomegaly |
OMIM:300215 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ataxia, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Cognitive impairm... |
ORPHA:395 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Ataxia, Hydrocephalus, Mental deterioration, Cognitive impairment, Hyperi... |
OMIM:618476 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Ventriculomegaly, Ataxia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:612936 |
Developmental And Epileptic Encephalopathy 65 |
|
Ventriculomegaly, Cerebral atrophy, Microcephaly |
OMIM:618008 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Abnormality of the testis size, Abnormal cerebral white matter morphology, Dec... |
ORPHA:261534 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Ventriculomegaly, Primary microcephaly |
ORPHA:2172 |
Pontocerebellar Hypoplasia, Type 2E |
|
Ventriculomegaly, Short stature, Microcephaly, Cerebral atrophy, Secondary microcephaly, Hypoplas... |
OMIM:615851 |
Multiple Sulfatase Deficiency |
|
Short stature, Ataxia, Hydrocephalus, Cerebral atrophy, Abnormal periventricular white matter mor... |
OMIM:272200 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Microcephaly, Cryptorchidism, Growth delay, Cognitive impairment, Intrauterine growth retardation... |
ORPHA:2083 |
Caribbean Parkinsonism |
|
T2 hypointense basal ganglia, Frontal lobe dementia, Progressive gait ataxia, Dementia, Lewy bodi... |
ORPHA:97355 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Ventriculomegaly, Intrauterine ... |
OMIM:619074 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Microcephaly, Diffuse white matter abnormalities, Growth delay, Hypoplasia of the corpus callosum... |
ORPHA:466934 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Failure to thrive, Ag... |
OMIM:620352 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Short stature |
OMIM:109120 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Ventriculomegaly, Cerebral calcification, Short stature, Failure to thriv... |
OMIM:620024 |
Orofaciodigital Syndrome Xvii |
|
Short stature, Ventriculomegaly, Decreased body weight |
OMIM:617926 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Cortical dysplasia, Ce... |
OMIM:612513 |
Cog8-Cdg |
|
Ventriculomegaly, Failure to thrive, Ataxia, Progressive microcephaly |
ORPHA:95428 |
Sandestig-Stefanova Syndrome |
|
Small for gestational age, Hypoplasia of the corpus callosum, Primary microcephaly, Intrauterine ... |
OMIM:618804 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Failure to thrive, Microcephaly |
OMIM:604273 |
Rere-Related Neurodevelopmental Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Hypoplasia of the corpus callosum, Attention defici... |
ORPHA:494344 |
5Q14.3 Microdeletion Syndrome |
|
Frontal cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:228384 |
Smith-Magenis Syndrome |
|
Short stature, Failure to thrive in infancy, Microcephaly, Impaired pain sensation, Obesity, Apla... |
ORPHA:819 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Cerebral white matter atrophy, Ventriculomegaly, Short stature, Abnormal cortical gyration, Micro... |
ORPHA:79351 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Ataxia, Microcephaly, Cryptorchidism, Simplified gyral pattern, Dysmetria, Truncal... |
OMIM:616541 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Microcephaly, Hydrocephalus, Cerebral atrophy, Growth delay, Hypoplas... |
OMIM:614576 |
Fanconi Anemia, Complementation Group W |
|
Microcephaly, Growth delay, Intrauterine growth retardation, Abnormal periventricular white matte... |
OMIM:617784 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Megalencephaly, Hydrocephalus, Thick corpus callosum, Hypoplasia of the corpus callosum, Pachygyr... |
OMIM:603387 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Failure to thrive, Absent septum pellucidum, Microcephaly, Cryptorchidism, Obesity, Growth delay,... |
ORPHA:96147 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Short stature, Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Ventriculomegaly |
ORPHA:66629 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Caudate atrophy, Ventriculomegaly, Failure to thrive, Reduced cerebral ... |
OMIM:615574 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Short attention span, Microcephaly, Growth delay, Hypoplasia of the corpus callosum, Hyperintensi... |
ORPHA:88618 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Ataxia, Small for gestational age, Microcephaly, Cerebral atrophy, Growth delay, Abnormal cerebra... |
OMIM:615471 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ataxia, Leukoencephalopathy, Cerebral atrophy, Dysmetria, Athetosis, La... |
ORPHA:572798 |
Congenital Disorder Of Glycosylation, Type If |
|
Ataxia, Microcephaly, Cerebral atrophy, Failure to thrive, Ventriculomegaly |
OMIM:609180 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Periventricular ... |
ORPHA:544488 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Partial agenesis of the corpus callosum, Secondary microcephaly, Primary microcephaly, Hyperinten... |
ORPHA:500144 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Ventriculomegaly, Microcephaly, Diffuse white matter abnormalities, Hyd... |
ORPHA:370959 |
Pontocerebellar Hypoplasia, Type 2B |
|
Ventriculomegaly, Microcephaly, Chorea, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of... |
OMIM:612389 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
Desmosterolosis |
|
Failure to thrive, Severe short stature, Absent septum pellucidum, Abnormal cortical gyration, Mi... |
ORPHA:35107 |
Galloway-Mowat Syndrome 9 |
|
Microcephaly, Choreoathetosis, Secondary microcephaly, Cerebral cortical atrophy, Thin corpus cal... |
OMIM:619603 |
Gillespie Syndrome |
|
Ataxia, Thin corpus callosum, Ventriculomegaly |
OMIM:206700 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Microcephaly, Cryptorchidism, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:452 |
Warburg Micro Syndrome 3 |
|
Decreased testicular size, Microcephaly, Postnatal growth retardation, Secondary microcephaly, Hy... |
OMIM:614222 |
Lissencephaly Due To Lis1 Mutation |
|
Thick cerebral cortex, Ventriculomegaly, Progressive microcephaly, Anterior predominant thick cor... |
ORPHA:95232 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bradyphrenia, Short attention span, Obesity, Decreased body weight, Ventriculomegaly |
ORPHA:589821 |
Pettigrew Syndrome |
|
Ventriculomegaly, Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ganglia calcif... |
OMIM:304340 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Ataxia, Microcephaly, Gait ataxia, Choreoathetosis, Attention deficit hyper... |
OMIM:619580 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Short stature, Small for gestational age, Microcephaly, Hypodysplasia of the co... |
OMIM:257300 |
Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Microcephaly, Large for gestational age, Abnormal cerebral white matter morphology... |
ORPHA:261652 |
1Q44 Microdeletion Syndrome |
|
Short stature, Microcephaly, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Ventriculo... |
ORPHA:238769 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Cerebral cortical atrophy, Ventriculomegaly, Abnormal corpus callosum morphology |
ORPHA:3224 |
Cerebrofacioarticular Syndrome |
|
Short stature, Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosu... |
ORPHA:314679 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria,... |
ORPHA:899 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Cerebral calcification, Microcephaly, Basal ganglia calcification, Dysplastic c... |
OMIM:617281 |
Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Progressive psychomotor deterioration, Cerebral atrophy, Failure to thrive, Ventriculomegaly |
OMIM:230600 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Failure to thrive, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebral cortical atrophy, V... |
OMIM:617669 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions, Short stature |
ORPHA:557003 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, Ataxia, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Hypop... |
OMIM:614969 |
1P31P32 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Ventriculomegaly, Aplasia/Hypoplasia of the corpus call... |
ORPHA:401986 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microcephaly, Postnatal growth retardation, Cryptorchidism, Severe intrauterine growth retardatio... |
OMIM:241410 |
Toriello-Carey Syndrome |
|
Ventriculomegaly, Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Part... |
ORPHA:3338 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Failure to th... |
OMIM:614924 |
De Sanctis-Cacchione Syndrome |
|
Severe short stature, Ataxia, Microcephaly, Bilateral cryptorchidism, Basal ganglia calcification... |
OMIM:278800 |
Developmental And Epileptic Encephalopathy 80 |
|
Failure to thrive, Growth delay, Abnormal cerebral white matter morphology, Hypoplasia of the cor... |
OMIM:618580 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Microcephaly, Cryptorchidism, Dysplastic corpus callosum, Partial agenesis ... |
OMIM:619103 |
Pseudo-Torch Syndrome 1 |
|
Failure to thrive, Cerebral calcification, Microcephaly, Lissencephaly, Pachygyria, Polymicrogyri... |
OMIM:251290 |
Seckel Syndrome 9 |
|
Short stature, Small for gestational age, Microcephaly, Simplified gyral pattern, Intrauterine gr... |
OMIM:616777 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Growth delay, Basal ganglia gliosis, Ce... |
OMIM:614946 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Cadds |
|
Abnormal cerebral white matter morphology, Ventriculomegaly, Intrauterine growth retardation |
ORPHA:369942 |
Bilateral Polymicrogyria |
|
Ventriculomegaly, 4-layered lissencephaly, Aplasia/Hypoplasia of the cerebral white matter, Peris... |
ORPHA:268940 |
Pontocerebellar Hypoplasia, Type 10 |
|
Ventriculomegaly, Reduced cerebral white matter volume, Microcephaly, Cryptorchidism, Simplified ... |
OMIM:615803 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Failure to thrive, Short stature, Absent septum pellucidum, Rhizomelic leg shor... |
ORPHA:397715 |
Halperin-Birk Syndrome |
|
Colpocephaly, Intrauterine growth retardation, Failure to thrive, Agenesis of corpus callosum, Ve... |
OMIM:618651 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Ventriculomegaly, Abnormal cortical gyration, Cessation of head growth, Hypoplasia of the corpus ... |
OMIM:617527 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Short stature, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Lisse... |
OMIM:617729 |
Fumarase Deficiency |
|
Failure to thrive, Microcephaly, Mitochondrial swelling, Choroid plexus cyst, Cerebral atrophy, L... |
OMIM:606812 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Ventriculomegaly, Failure to thrive, Short stature, Cerebral atrophy |
OMIM:616430 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Ataxia, Periventricular cysts, Growth delay, Subependymal cysts, I... |
ORPHA:3008 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Ventriculomegaly, Severe short stature, Microcephaly, Cryptorchidism, Cortical dysplasia, Simplif... |
ORPHA:468631 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Cerebral edema, Cerebral atrophy, Gait ataxia, Abnormal cerebral white matter mor... |
OMIM:618321 |
Desmosterolosis |
|
Rhizomelia, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypopla... |
OMIM:602398 |
Galloway-Mowat Syndrome 1 |
|
Ventriculomegaly, Short stature, Ataxia, Small for gestational age, Microcephaly, Cerebral atroph... |
OMIM:251300 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Failure to thrive, Ventriculo... |
ORPHA:261197 |
Xeroderma Pigmentosum, Complementation Group B |
|
Ataxia, Short stature, Microcephaly, Basal ganglia calcification, Ventriculomegaly |
OMIM:610651 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Cerebral cortical atrophy, Ventriculomegaly, Primary microcephaly |
OMIM:620183 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Agyria, Ventriculomegaly, Partial agenesis of the corpus callosum, Hyd... |
OMIM:614643 |
Leukodystrophy, Hypomyelinating, 12 |
|
Ventriculomegaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616683 |
Sanjad-Sakati Syndrome |
|
Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Severe intrauterine gr... |
ORPHA:2323 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Intrauterine growth retardation, Pachyg... |
OMIM:618397 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Short stature, Small for gestational age, Impaired temperature sensation, Cryptorchidism, Perisyl... |
ORPHA:98754 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria,... |
OMIM:616538 |
Isolated Sedoheptulokinase Deficiency |
|
Severe postnatal growth retardation, Subcortical cerebral atrophy, Short stature, Ventriculomegaly |
ORPHA:440713 |
Amish Lethal Microcephaly |
|
Ventriculomegaly, Agenesis of corpus callosum, Lissencephaly, Microcephaly |
ORPHA:99742 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Short stature, Small for gestational age, Impaired temperature sensation, Cryptorchidism, Perisyl... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Short stature, Small for gestational age, Impaired temperature sensation, Cryptorchidism, Perisyl... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Short stature, Small for gestational age, Impaired temperature sensation, Cryptorchidism, Perisyl... |
ORPHA:177901 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... |
OMIM:613154 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Growth delay, Hypoplasia of the corpus callosum, Intrauterine growth retardation, ... |
OMIM:300514 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Short stature, Chorea, Disproporti... |
ORPHA:1855 |
Prader-Willi Syndrome |
|
Short stature, Impaired temperature sensation, Cryptorchidism, Perisylvian polymicrogyria, Abnorm... |
ORPHA:739 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Microcephaly, Cryptorchidism, Dysplastic corpus callosum, Intrauterine growth reta... |
OMIM:151050 |
Curry-Jones Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1553 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Ventriculomegaly, Polymicrogyria, Agyria, Hypoplasia of the corpus callosum |
ORPHA:370997 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
OMIM:617260 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Ataxia, Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Crane-Heise Syndrome |
|
Cryptorchidism, Intrauterine growth retardation, Ventriculomegaly, Aplasia/Hypoplasia of the corp... |
ORPHA:1512 |
Xfe Progeroid Syndrome |
|
Severe short stature, Cachexia, Microcephaly, Failure to thrive, Ventriculomegaly |
OMIM:610965 |
Distal Deletion 3P |
|
Short stature, Microcephaly, Cryptorchidism, Cognitive impairment, Intrauterine growth retardatio... |
ORPHA:1620 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Microcephaly, Cryptorchidism, Birth length less than 3rd percentile, H... |
ORPHA:464311 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Short stature, Ataxia, Microcephaly, Neuronal loss in the cerebral cortex, Truncal obesity, Trunc... |
OMIM:301072 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Failure to thrive, Microcephaly, C... |
ORPHA:444072 |
Neurooculorenal Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Partial agenesis of the corpus callosum, Aqueductal... |
OMIM:620305 |
Linear Nevus Sebaceus Syndrome |
|
Ventriculomegaly, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus ca... |
ORPHA:2612 |
Cockayne Syndrome A |
|
Short stature, Ataxia, Microcephaly, Cryptorchidism, Basal ganglia calcification, Cerebral atroph... |
OMIM:216400 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Megalencephaly, Large for gestational age, Thick corpus callosum, Ga... |
OMIM:617011 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebral calcification, Hydrocephalus, Abnormal bas... |
ORPHA:228308 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Dandy-Walker malformation, Agyria, Ventriculomegaly, Microcephaly, Cryptorchidism, Hydrocephalus,... |
OMIM:236670 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Ventriculomegaly, Absent septum pellucidum, Cortical dysplasia, Hydr... |
OMIM:615287 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Cryptorchidism, Choroid plexus cyst, Hypoplasia of the corpus ... |
OMIM:603671 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Ventriculomegaly, Microcephaly, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Type II l... |
OMIM:613150 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Dysplastic corpus callosum |
OMIM:618810 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Abnormal cerebral white matter morphology, Ventriculomegaly, Small for gestational age, Hypoplasi... |
OMIM:614501 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive in infancy, Microcephaly, Growth delay, Hypoplasia of the corpus callosum, Fail... |
OMIM:619418 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Absent septum pellucidum, Microcephaly, Aqueductal stenosis, Partial agenesis o... |
OMIM:619895 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Megalencephaly, Large for gestational age, Diffuse white matter abno... |
ORPHA:457359 |
Zttk Syndrome |
|
Failure to thrive, Short stature, Dysplastic corpus callosum, Growth delay, Abnormal cerebral whi... |
OMIM:617140 |
Hydranencephaly |
|
Ventriculomegaly, Postnatal growth retardation, Primary microcephaly, Intrauterine growth retarda... |
ORPHA:2177 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Secondary mic... |
OMIM:618820 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short stature, Ataxia, Reduced cerebral white matter volume, Microcephaly, Perisylvian polymicrog... |
OMIM:610442 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cerebral atrophy, Growth delay, Secondary microcephaly, Hypoplasia of the corpus callosum, Failur... |
OMIM:617248 |
Wolf-Hirschhorn Syndrome |
|
Short stature, Absent septum pellucidum, Small for gestational age, Microcephaly, Cryptorchidism,... |
OMIM:194190 |
Gabriele-De Vries Syndrome |
|
Small for gestational age, Cryptorchidism, Abnormal cerebral white matter morphology, Hypoplasia ... |
ORPHA:506358 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Ventriculomegaly, Failure to thrive in infancy, Proportionate short stature, Dysplastic corpus ca... |
ORPHA:500150 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Dysplastic corpus callosum, Cryptorchidism, Thick corpus callosum, Delayed puberty, Slend... |
OMIM:300967 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Obesity, Attention deficit hyperactivity disorder |
OMIM:619426 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ataxia, Bilateral cryptorchidism, Dysplastic corpus callosum, Cryptorchidism, Hypoplasia of the c... |
ORPHA:466791 |
Witteveen-Kolk Syndrome |
|
Unilateral cryptorchidism, Short stature, Small for gestational age, Microcephaly, Dysplastic cor... |
OMIM:613406 |
Williams Syndrome |
|
Short stature, Ataxia, Failure to thrive in infancy, Microcephaly, Atrophy/Degeneration involving... |
ORPHA:904 |