Lissencephaly 4 |
|
Short stature, Cerebellar hypoplasia, Growth delay, Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... |
OMIM:220200 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem |
ORPHA:250972 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar hypoplasia, Cerebellar atrophy, Growth delay, Abnormal lateral ventricle morphology, I... |
ORPHA:488635 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617127 |
Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Septopreoptic Holoprosencephaly |
|
Rhombencephalosynapsis, Hypoplasia of the pons, Anterior hypopituitarism, Ethmoidal encephalocele... |
ORPHA:280195 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology, Short stature, Abnormal brainstem morphology, Cere... |
ORPHA:1532 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:619111 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Short stature |
ORPHA:166024 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis |
OMIM:307000 |
Joubert Syndrome 30 |
|
Superior cerebellar dysplasia, Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dan... |
OMIM:617622 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Hydrocephalus, Anencephaly, Agenesis of cerebellar vermis, Menin... |
OMIM:611134 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:612285 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Hydranencephaly, Intrauterine growth reta... |
OMIM:225790 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Cerebellar hypoplasia |
ORPHA:401815 |
Joubert Syndrome 10 |
|
Growth delay, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly, Dilated fourth ventricle, Cerebellar hypoplasia, Molar toot... |
OMIM:614175 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degene... |
ORPHA:77299 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Aqueductal stenosis, Ventriculomegaly |
OMIM:600907 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the pons, Midline brainstem cl... |
OMIM:617542 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Cerebellar vermis hypoplasia, E... |
OMIM:610688 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume, Hydrocephalus, Abnormal cerebellum morphology, Occipital encephalocele... |
ORPHA:370959 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Agenesis of corpus callosum, Ventriculomegaly, Abnormal brainstem... |
ORPHA:255182 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dilatation, Cerebellar a... |
ORPHA:300573 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Stillbirth, Aqueductal stenosis |
OMIM:276950 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... |
ORPHA:370022 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Cerebellar vermis... |
OMIM:609583 |
Joubert Syndrome 18 |
|
Intrauterine growth retardation, Molar tooth sign on MRI |
OMIM:614815 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Agenesis of corpus callosum, Aqueductal stenosis |
ORPHA:1496 |
Joubert Syndrome 22 |
|
Intrauterine growth retardation, Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus |
OMIM:615219 |
Achondroplasia |
|
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia, Brain stem compression |
OMIM:100800 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... |
OMIM:220220 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Agenesis of cerebellar vermis, Abnormal brainstem morphology, Cerebellar vermis hy... |
ORPHA:163961 |
Slc35A2-Cdg |
|
Short stature, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Elevat... |
ORPHA:356961 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Short stature, Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atroph... |
OMIM:614831 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Cerebellar hypoplasia |
OMIM:618731 |
Cach Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem... |
ORPHA:135 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, En... |
OMIM:608629 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Abnormal medulla oblongata morphology, Part... |
ORPHA:1136 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elongated superior cerebellar peduncle, Abnormal cerebellum morphology, Rhizomelic leg shortening... |
ORPHA:397715 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Joubert Syndrome 7 |
|
Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem |
OMIM:611560 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Short stature, Molar tooth sign on MRI, Hypothalamic hamartoma |
OMIM:277170 |
Halperin-Birk Syndrome |
|
Colpocephaly, Ventriculomegaly, Umbilical hernia, Semilobar holoprosencephaly, Intrauterine growt... |
OMIM:618651 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Short stature, Colpocephaly, Ventriculomegaly, Intrauterine growth retardation |
OMIM:619833 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:99852 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebellar vermis, Cerebellar ... |
OMIM:617751 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Severe postnatal growth retardation, Dilated fourth ventricle, Cerebellar hypoplasia, Lateral ven... |
ORPHA:3078 |
Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI, Agenesis of ... |
ORPHA:220497 |
Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Molar tooth sign on MRI |
OMIM:617757 |
Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia |
OMIM:615960 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Hydrocephalus, Encephalocele, Dysgenesis of the cerebella... |
OMIM:608091 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle |
OMIM:619054 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Short sta... |
OMIM:609053 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem |
ORPHA:420179 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Growth delay |
ORPHA:85290 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intrauterine growth retardation, Aqueductal stenosis |
ORPHA:3035 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Short stature, Abnormal mid... |
ORPHA:314621 |
Holoprosencephaly 14 |
|
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Partial absence ... |
OMIM:619895 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebellar gliosis, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Ventri... |
ORPHA:79243 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Fusion of the left and r... |
OMIM:619306 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI, Agenesis of ... |
ORPHA:220493 |
Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Encephalocele |
ORPHA:2318 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Intrauterine growth retardation |
ORPHA:284417 |
Weiss-Kruszka Syndrome |
|
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly |
OMIM:618619 |
Pontocerebellar Hypoplasia Type 10 |
|
Growth delay, Abnormal brainstem morphology |
ORPHA:411493 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Intrauterine growth retardation, Aqueductal stenosis, Arrhinencephaly |
ORPHA:1788 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal cerebellum morphology, Cerebellar hypoplasia, Atrophy/Degeneration affecting the brainst... |
ORPHA:565624 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar atrophy, Short stature |
ORPHA:1170 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617563 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Ventriculom... |
ORPHA:572798 |
Joubert Syndrome 38 |
|
Decreased response to growth hormone stimulation test, Small pituitary gland, Short stature, Infe... |
OMIM:619476 |
Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:618161 |
Joubert Syndrome 17 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614615 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
Arima Syndrome |
|
Occipital meningocele, Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Age... |
OMIM:243910 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Part... |
ORPHA:300570 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Ventriculo... |
ORPHA:370997 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... |
OMIM:213300 |
Cog5-Cdg |
|
Short stature, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Cerebe... |
ORPHA:263487 |
Cerebellar-Facial-Dental Syndrome |
|
Severe short stature, Hypoplasia of the pons, Cerebellar hypoplasia, Inferior cerebellar vermis h... |
ORPHA:444072 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy, Short stature |
ORPHA:251347 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Growth delay, Short stature |
ORPHA:208447 |
Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Short stature |
OMIM:619185 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dysplastic corpus callosum, Abnormal cerebellar vermis morphology, Dilated fourth ventricle, Cere... |
ORPHA:357058 |
Galloway-Mowat Syndrome |
|
Intrauterine growth retardation, Aqueductal stenosis, Short stature |
ORPHA:2065 |
Coach Syndrome 1 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Cerebellar vermis hypoplasia, Growth delay, Encephal... |
OMIM:216360 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Short stature, Disproportionate short-trun... |
ORPHA:1855 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Anencephaly, Hydrocephalus, Molar tooth sign on MRI |
OMIM:616546 |
16P13.2 Microdeletion Syndrome |
|
Hydrocephalus, Dilated third ventricle, Ventriculomegaly, Short stature |
ORPHA:500055 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Short stature, Ventriculomegaly, Colpoceph... |
OMIM:617260 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Lateral ventricle dilatation, Short stature |
ORPHA:178469 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle |
OMIM:617296 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Short stature |
ORPHA:2720 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619562 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Abnormal cerebellar vermis morphology, Dys... |
ORPHA:544488 |
47,Xyy Syndrome |
|
Hydrocephalus, Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Cerebellar dys... |
ORPHA:8 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Dilated third ventricle, Cerebellar atrophy |
ORPHA:314404 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Lateral ventricle dilatation, Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:488627 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis |
ORPHA:93258 |
Khan-Khan-Katsanis Syndrome |
|
Intrauterine growth retardation, Cerebellar vermis hypoplasia, Colpocephaly, Short stature |
OMIM:618460 |
Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Abnormal pons morphology, Paucity of anterior horn motor n... |
ORPHA:79139 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Cerebellar dysplasia |
OMIM:601374 |
Cerebellofaciodental Syndrome |
|
Short stature, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain, Ventric... |
OMIM:616202 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Chiari malformation |
ORPHA:93259 |
Gangliocytoma |
|
Abnormality of the pituitary gland, Abnormal cerebellum morphology, Pituitary null cell adenoma, ... |
ORPHA:251937 |
Machado-Joseph Disease Type 3 |
|
Degeneration of anterior horn cells, Dilated fourth ventricle, Abnormal lower motor neuron morpho... |
ORPHA:276244 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Disproportionate short-limb short stature, Small pituitary gland, Dysgenesis of the cerebellar ve... |
OMIM:619479 |
Distal Monosomy 10Q |
|
Short stature, Cerebellar hypoplasia, Spina bifida occulta, Inferior cerebellar vermis hypoplasia... |
ORPHA:96148 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation, Abnormal substantia nigra morphology, Hypothalamic atrophy |
ORPHA:2822 |
Aicardi Syndrome |
|
Choroid plexus cyst, Dilated third ventricle, Partial agenesis of the corpus callosum, Cerebellar... |
OMIM:304050 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cerebellar hypoplasia, Rhizomelia, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:616300 |
Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Semilobar holoprosencephaly |
OMIM:301043 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal pons morphology, Abnormal cerebellum morphology, Abnormal hypothalamus morphology, Abnor... |
ORPHA:68 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Chiari type I malformation, Short stature |
OMIM:619575 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Short stature |
OMIM:309801 |
Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecting the brainstem, Ab... |
ORPHA:98755 |
Machado-Joseph Disease Type 1 |
|
Substantia nigra gliosis, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Substantia nigra gliosis, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:276241 |
Meckel Syndrome, Type 1 |
|
Intrauterine growth retardation, Hydrocephalus, Occipital encephalocele, Dilated fourth ventricle... |
OMIM:249000 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Short stature, Dilated fourth ventricle, Hypoplasia of the pons, Cerebellar hypoplasia, Postnatal... |
OMIM:300749 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Lateral ventricle dilatation |
ORPHA:293725 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:79279 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
ORPHA:464738 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Elongated superior cerebellar peduncle, Hydrocephalus, Aqueductal stenosis, Hypoplasia of the pon... |
OMIM:619512 |
Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Chiari malformation |
ORPHA:93260 |
Joubert Syndrome 5 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of cerebellar vermis, Thickened superior ce... |
OMIM:610188 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Holoprosencephaly, Chiari malformation, Colpocephaly, Agenesis of cor... |
OMIM:618820 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebell... |
ORPHA:1692 |
Orofaciodigital Syndrome Type 14 |
|
Dilated third ventricle, Dilated fourth ventricle, Partial agenesis of the corpus callosum, Molar... |
ORPHA:434179 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Olivopontocerebellar atrophy |
OMIM:183090 |
Orofaciodigital Syndrome Type 6 |
|
Short stature, Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Growth delay, Molar tooth si... |
ORPHA:2754 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation |
ORPHA:457279 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormality of thalamus morphology, Abnormal brainstem morphology, Abnormal brainstem MRI signal ... |
ORPHA:88619 |
Zaki Syndrome |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Short stature |
OMIM:619648 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hydrocephalus, Cerebellar hypoplasia, Meningoencephalocele, Cerebellar dysplasia, Ventriculomegal... |
OMIM:236670 |
Alexander Disease |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis |
ORPHA:58 |
Machado-Joseph Disease |
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Dilated fourth ventricle, Cerebellar atrophy |
OMIM:109150 |
Spinocerebellar Ataxia 1 |
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Dilated fourth ventricle, Spinocerebellar atrophy, Olivopontocerebellar atrophy |
OMIM:164400 |
Neurofibromatosis, Type I |
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Hydrocephalus, Spina bifida, Aqueductal stenosis, Short stature |
OMIM:162200 |
Acrofacial Dysostosis 1, Nager Type |
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Hydrocephalus, Aqueductal stenosis, Short stature |
OMIM:154400 |
Smith-Lemli-Opitz Syndrome |
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Intrauterine growth retardation, Hydrocephalus, Holoprosencephaly, Short stature, Partial agenesi... |
OMIM:270400 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Sh... |
ORPHA:293987 |
Prader-Willi Syndrome Due To Translocation |
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Decreased response to growth hormone stimulation test, Short stature, Lateral ventricle dilatatio... |
ORPHA:177907 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Colpocephaly, Enlarged cerebellum |
ORPHA:477993 |
15Q11.2 Microdeletion Syndrome |
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Dilated fourth ventricle |
ORPHA:261183 |
Congenital Disorder Of Glycosylation, Type Ia |
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Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar atrophy... |
OMIM:212065 |
Orofaciodigital Syndrome Xiv |
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Holoprosencephaly, Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walker malformation, Mol... |
OMIM:615948 |
Leigh Syndrome With Cardiomyopathy |
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Abnormality of thalamus morphology, Ventriculomegaly, Abnormal brainstem morphology |
ORPHA:70474 |
6Q Terminal Deletion Syndrome |
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Colpocephaly, Cerebellar hypoplasia |
ORPHA:75857 |
Charge Syndrome |
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Aqueductal stenosis, Holoprosencephaly, Short stature, Anterior hypopituitarism, Aplasia/Hypoplas... |
ORPHA:138 |
Familial Cerebral Saccular Aneurysm |
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Abnormal brainstem morphology |
ORPHA:231160 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Short stature, Abnormal lateral ventricle morphology, Chiari malformation, Postnatal growth retar... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Short stature, Abnormal lateral ventricle morphology, Chiari malformation, Postnatal growth retar... |
ORPHA:353277 |
Heterotaxy, Visceral, 1, X-Linked |
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Myelomeningocele, Cerebellar hypoplasia, Hydrocephalus, Aqueductal stenosis |
OMIM:306955 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Birth length less than 3rd percentile, Abnormal brainstem morphology, Posterior pituitary hypopla... |
ORPHA:464311 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Dysplastic corpus callosum, Progressive ventriculomegaly, Lateral ventricle dilatation, Chiari ma... |
ORPHA:500150 |
Semilobar Holoprosencephaly |
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Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Panhypopitui... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Panhypopitui... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Panhypopitui... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Panhypopitui... |
ORPHA:93924 |
Wilson Disease |
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Face of the giant panda sign |
OMIM:277900 |
Genitopatellar Syndrome |
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Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |
Neurocardiofaciodigital Syndrome |
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Cerebellar vermis hypoplasia, Dilated fourth ventricle, Short stature |
OMIM:619869 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Short stature, Dilated fourth ventricle, Aplasia/Hypoplasia of the cerebellum, Cerebellar hypopla... |
ORPHA:480880 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hydrocephalus, Aqueductal stenosis, Short stature, Neonatal death, Anterior pituitary hypoplasia |
OMIM:619534 |
Choreoacanthocytosis |
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Lateral ventricle dilatation |
ORPHA:2388 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Short stature, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Lateral ventricle dilatation... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Short stature, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Lateral ventricle dilatation... |
ORPHA:261552 |