Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Increased CSF protein |
OMIM:203450 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Gait disturbance, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Difficulty walking, Increased CSF protein |
ORPHA:251912 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Attention deficit hyperactivity disorder, Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia, Ventriculomegaly |
OMIM:613402 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Atypical Teratoid Rhabdoid Tumor |
|
Ataxia, Hydrocephalus |
ORPHA:99966 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus |
OMIM:617967 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:1538 |
Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Hydrocephalus, Lethargy |
ORPHA:26 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Hydrocephalus, Broad-based gait |
OMIM:619470 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Difficulty walking, Increased CSF protein |
ORPHA:251915 |
Hydrocephalus, Congenital Communicating, 1 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Masa Syndrome |
|
Shuffling gait, Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Hydrocephalus, Normal-Pressure, 1 |
|
Gait disturbance, Normal pressure hydrocephalus |
OMIM:236690 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Distal 7Q11.23 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Hydrocephalus |
ORPHA:261102 |
1Q21.1 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Hydrocephalus |
ORPHA:250994 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Ventriculomegaly, Hyperactivity, Progressive cerebellar ataxia, Ataxia, B... |
ORPHA:248111 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Fried Syndrome |
|
Gait disturbance, Hydrocephalus |
ORPHA:85335 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Holoprosencephaly 5 |
|
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar holoprosenceph... |
OMIM:609637 |
Central Neurocytoma |
|
Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Lethargy |
ORPHA:73256 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:613154 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Gómez-López-Hernández Syndrome |
|
Ataxia, Hydrocephalus |
ORPHA:1532 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus, Akinesia |
OMIM:225790 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Pettigrew Syndrome |
|
Dandy-Walker malformation, Gait ataxia, Hydrocephalus, Ventriculomegaly |
OMIM:304340 |
Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:617281 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele |
OMIM:182940 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Aicardi-Goutieres Syndrome 4 |
|
Dystonia, CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly |
OMIM:610333 |
L1 Syndrome |
|
Gait disturbance, Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Pontocerebellar Hypoplasia, Type 15 |
|
Dystonia, Hydrocephalus |
OMIM:619302 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Congenital Hydrocephalus |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:2185 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus |
ORPHA:1931 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Dilation of lateral ventricles, Hydrocephalus |
OMIM:300864 |
Melanosis, Neurocutaneous |
|
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus |
OMIM:249400 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220220 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Mend Syndrome |
|
Dandy-Walker malformation, Hyperactivity, Hydrocephalus |
OMIM:300960 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus |
ORPHA:352682 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:183802 |
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy |
|
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220219 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus |
OMIM:304100 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Hydrocephalus |
OMIM:300558 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia |
OMIM:300983 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Muscle-Eye-Brain Disease |
|
Meningocele, Gait disturbance, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Ventriculomegaly |
ORPHA:457260 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis |
ORPHA:2182 |
Oxoglutaric Aciduria |
|
Ataxia, Hydrocephalus |
ORPHA:31 |
Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Gait disturbance, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Gait disturbance, Hydrocephalus |
ORPHA:2181 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Elevated CSF gamma-aminobutyric acid concentration, Elevated CSF 4-hydroxy... |
OMIM:271980 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Hydrocephalus |
ORPHA:1528 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence |
ORPHA:99947 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Abnormality of the cerebrospinal fluid, Ventriculomegaly, Hyperactivity, Inability ... |
ORPHA:1929 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia |
OMIM:609425 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis |
OMIM:307000 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Unsteady gait, Hydrocephalus |
OMIM:617542 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity |
OMIM:618362 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Ventriculomegaly, Hyperactivity, Inability to walk, Gait ataxia |
ORPHA:500180 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus |
OMIM:614195 |
Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Craniofacial Dyssynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:612716 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
Mental Retardation, Autosomal Dominant 36 |
|
Inability to walk, Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:613153 |
Williams-Beuren Region Duplication Syndrome |
|
Gait disturbance, Attention deficit hyperactivity disorder, Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Ventriculomegaly |
OMIM:618314 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele |
OMIM:207950 |
Hydrocephalus With Associated Malformations |
|
Hydrocephalus |
OMIM:236640 |
Lissencephaly 5 |
|
Hydrocephalus |
OMIM:615191 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Central Precocious Puberty |
|
Hydrocephalus |
ORPHA:759 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Ataxia |
ORPHA:1861 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:163961 |
Mental Retardation, Buenos Aires Type |
|
Spastic gait, Hydrocephalus |
OMIM:249630 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus |
OMIM:600991 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:245200 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Mental Retardation, Autosomal Dominant 35 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:615287 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait, Ventriculomegaly |
OMIM:300958 |
Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Joubert Syndrome 14 |
|
Dandy-Walker malformation, Ataxia, Hydrocephalus |
OMIM:614424 |
Thanatophoric Dysplasia Type 2 |
|
Holoprosencephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:93274 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait |
OMIM:617865 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus |
OMIM:613603 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
Landau-Kleffner Syndrome |
|
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus |
OMIM:613776 |
Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis |
OMIM:276950 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Hyperactivity, Unsteady gait, Ventriculomegaly |
ORPHA:485350 |
Cln5 Disease |
|
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Hydrocephalus, Ventriculomegaly |
OMIM:618476 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
47,Xyy Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Hydrocephalus |
ORPHA:8 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
Aase-Smith Syndrome I |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:147800 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus |
OMIM:241800 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk |
OMIM:618718 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity |
OMIM:615516 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Broad-based gait |
ORPHA:3077 |
Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Myelomeningocele, Ventriculomegaly, Ataxia, Hydrocephalus, Difficulty walking, Aqued... |
ORPHA:1136 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Attention deficit hyperactivity disorder, Noncommunicating hydrocephalus |
OMIM:619320 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Spinal dysraphism |
ORPHA:1908 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia |
ORPHA:363400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Dandy-Walker malformation, Attention deficit hyperactivity disorder, Hydrocephalus |
ORPHA:459061 |
Meckel Syndrome, Type 4 |
|
Dandy-Walker malformation, Meningocele, Hydrocephalus, Anencephaly |
OMIM:611134 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Medulloblastoma |
|
Cerebellar ataxia associated with quadrupedal gait, Dysmetria, Progressive cerebellar ataxia, Ata... |
ORPHA:616 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Multiple Sulfatase Deficiency |
|
Ataxia, Hydrocephalus, Increased CSF protein, Ventriculomegaly |
OMIM:272200 |
Methylcobalamin Deficiency Type Cble |
|
Lethargy, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Meckel Syndrome, Type 3 |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:607361 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
OMIM:273730 |
Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Gait disturbance, Ventriculomegaly, Hydrocephalus, Attention deficit hyp... |
ORPHA:500055 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Athetosis, Dystonia, Communicating hydrocephalus, Subependymal nodules, Ventriculomegaly, Ataxia,... |
ORPHA:25 |
Crouzon Disease |
|
Hydrocephalus |
ORPHA:207 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Gait disturbance, Ventriculomegaly, Ataxia, Hydrocephalus, Lethargy |
ORPHA:395 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity |
OMIM:615824 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:220210 |
Griscelli Syndrome |
|
Ataxia, Hydrocephalus |
ORPHA:381 |
Rhombencephalosynapsis |
|
Ataxia, Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Hyperactivity, Ataxia, Difficulty walking, Increased CSF protein |
OMIM:615673 |
Cerebral Visual Impairment |
|
Attention deficit hyperactivity disorder, Hydrocephalus |
ORPHA:447788 |
Fragile X Syndrome |
|
Hyperactivity |
OMIM:300624 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Hydrocephalus, Ventriculomegaly |
ORPHA:370959 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Communicating hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Hydrolethalus |
|
Arrhinencephaly, Hydrocephalus, Anencephaly |
ORPHA:2189 |
Meckel Syndrome, Type 6 |
|
Hydrocephalus, Anencephaly |
OMIM:612284 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity |
OMIM:275000 |
Myoclonic-Astatic Epilepsy |
|
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
ORPHA:1942 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:617822 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Joubert Syndrome With Renal Defect |
|
Ataxia, Gait disturbance, Hydrocephalus |
ORPHA:220497 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus |
OMIM:310400 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Joubert Syndrome |
|
Ataxia, Gait disturbance, Hydrocephalus |
ORPHA:475 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Triploidy |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:3376 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Tenorio Syndrome |
|
Gait disturbance, Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:52503 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity |
ORPHA:101039 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:1647 |
Lhermitte-Duclos Disease |
|
Ataxia, Hydrocephalus |
ORPHA:65285 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Waddling gait, Hydranencephaly |
ORPHA:2839 |
Congenital Sialidosis Type 2 |
|
Dysmetria, Ataxia, Hydrocephalus |
ORPHA:93400 |
Diabetic Embryopathy |
|
Spinal dysraphism, Hydrocephalus |
ORPHA:1926 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait |
ORPHA:35069 |
3C Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:7 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly |
OMIM:617866 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Hydrocephalus |
ORPHA:2720 |
Joubert Syndrome With Ocular Defect |
|
Ataxia, Gait disturbance, Hydrocephalus |
ORPHA:220493 |
Fg Syndrome Type 1 |
|
Attention deficit hyperactivity disorder, Hydrocephalus, Broad-based gait, Ventriculomegaly |
ORPHA:93932 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate |
ORPHA:90065 |
Joubert Syndrome With Oculorenal Defect |
|
Ataxia, Hydrocephalus |
ORPHA:2318 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
Emanuel Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:96170 |
B4Galt1-Cdg |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:79332 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
ORPHA:2437 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Gait disturbance, Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus |
OMIM:603387 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Holoprosencephaly, Hydrocephalus |
ORPHA:77298 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Gait disturbance, Ventriculomegaly |
ORPHA:457485 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:612938 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Ventriculomegaly |
OMIM:300486 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:616482 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
Posterior Meningocele |
|
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Difficulty walking, Lipomy... |
ORPHA:268810 |
Arachnoid Cyst |
|
Gait disturbance, Holoprosencephaly, Inability to walk, Hydrocephalus, Enlarged fossa interpedunc... |
ORPHA:2356 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dystonia, Normal pressure hydrocephalus, Torticollis, Spastic ataxia, Inability to walk, Dilation... |
ORPHA:300570 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Athetosis, Hydrocephalus |
OMIM:239300 |
Walker-Warburg Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:899 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Plasminogen Deficiency, Type I |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:217090 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:612582 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Whipple Disease |
|
Ataxia, Hydrocephalus |
ORPHA:3452 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dilation of lateral ventricles, Hydrocephalus |
OMIM:612863 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Dilation of lateral ventricles, Attention deficit hyperactivity disorder... |
OMIM:619575 |
Lowry-Maclean Syndrome |
|
Hydrocephalus |
ORPHA:2409 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Endocrine-Cerebroosteodysplasia |
|
Holoprosencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:612651 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:43 |
Joubert Syndrome 2 |
|
Ataxia, Hydrocephalus, Enlarged fossa interpeduncularis |
OMIM:608091 |
Familial Lambdoid Synostosis |
|
Hydrocephalus |
ORPHA:3267 |
Dural Sinus Malformation |
|
Ataxia, Hydrocephalus |
ORPHA:97339 |
Iniencephaly |
|
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Spina bifida, Hydroc... |
ORPHA:63259 |
Sturge-Weber Syndrome |
|
Attention deficit hyperactivity disorder, Hydrocephalus |
ORPHA:3205 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus |
ORPHA:1834 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus |
OMIM:614083 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
7Q11.23 Microduplication Syndrome |
|
Dysmetria, Ventriculomegaly, Hyperactivity, Hydrocephalus, Unsteady gait |
ORPHA:96121 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia |
OMIM:610042 |
Popov-Chang syndrome |
|
Hydrocephalus |
OMIM:618428 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
Genitopalatocardiac Syndrome |
|
Hydrocephalus |
ORPHA:2075 |
Monosomy 9Q22.3 |
|
Hyperactivity, Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus |
OMIM:259720 |
Joubert Syndrome With Hepatic Defect |
|
Ataxia, Gait disturbance, Hydrocephalus |
ORPHA:1454 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
Pfeiffer Syndrome Type 2 |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:93259 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Hydrocephalus |
ORPHA:220295 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking |
ORPHA:139396 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Lethargy |
OMIM:277400 |
Tetrasomy 5P |
|
Hydrocephalus |
ORPHA:3309 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity |
OMIM:252900 |
Trisomy 17P |
|
Hydrocephalus |
ORPHA:261290 |
Alexander Disease |
|
Ataxia, Gait disturbance, Hydrocephalus, Aqueductal stenosis |
ORPHA:58 |
Trisomy 1Q |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Asymmetric ventricles, Hydrocephalus |
OMIM:616914 |
Hyperlysinemia |
|
Dysmetria, Decreased CSF arginine concentration, Increased CSF lysine concentration, Hyperactivit... |
ORPHA:2203 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Adams-Oliver Syndrome |
|
Hydrocephalus |
ORPHA:974 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
Vacterl With Hydrocephalus |
|
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis |
ORPHA:3412 |
Encephalocraniocutaneous Lipomatosis |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:613001 |
Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:35107 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
Mucopolysaccharidosis Type 3 |
|
Gait disturbance, Loss of ambulation, Ventriculomegaly, Hyperactivity, Ataxia, Hydrocephalus |
ORPHA:581 |
Pseudotrisomy 13 Syndrome |
|
Holoprosencephaly, Hydrocephalus |
OMIM:264480 |
Mucopolysaccharidosis, Type Ii |
|
Hydrocephalus |
OMIM:309900 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus |
ORPHA:1865 |
Distal Tetrasomy 15Q |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:314588 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus |
OMIM:224400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:614643 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Ataxia |
ORPHA:168577 |
Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
1Q21.1 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Hydrocephalus |
ORPHA:250989 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Opitz-Kaveggia Syndrome |
|
Attention deficit hyperactivity disorder, Hydrocephalus |
OMIM:305450 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Hydrocephalus, Aqueductal stenosis |
OMIM:619512 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Anencephaly |
ORPHA:1335 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus |
ORPHA:3301 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Ataxia |
OMIM:616084 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Gait ataxia, Hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Hurler Syndrome |
|
Hydrocephalus |
OMIM:607014 |
Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus |
OMIM:253220 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Holoprosencephaly, Hydrocephalus |
OMIM:253800 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Holoprosencephaly |
|
Dandy-Walker malformation, Dystonia, Holoprosencephaly, Hydrocephalus, Spinal dysraphism |
ORPHA:2162 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Semilobar holoprosencephaly |
OMIM:610828 |
Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus |
OMIM:618162 |
Dubowitz Syndrome |
|
Attention deficit hyperactivity disorder, Spina bifida occulta, Hydrocephalus |
ORPHA:235 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus |
OMIM:115150 |
Campomelic Dysplasia |
|
Hydrocephalus |
OMIM:114290 |
Mend Syndrome |
|
Dandy-Walker malformation, Hyperactivity, Hydrocephalus |
ORPHA:401973 |
Mucopolysaccharidosis, Type Vi |
|
Hydrocephalus |
OMIM:253200 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Hydrocephalus, Lethargy |
ORPHA:79282 |
Mirage Syndrome |
|
Hydrocephalus |
OMIM:617053 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia |
ORPHA:760 |
Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:101200 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly |
OMIM:616546 |
15Q Overgrowth Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:314585 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Inability to walk, Hydrocephalus |
ORPHA:505248 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602398 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
Fanconi Anemia, Complementation Group D2 |
|
Attention deficit hyperactivity disorder, Hydrocephalus |
OMIM:227646 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus |
OMIM:101800 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
Raine Syndrome |
|
Hydrocephalus |
OMIM:259775 |
Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Dystonia, Torticollis, Falls, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomeg... |
OMIM:619475 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Inability to walk, Limb dystonia, Hydrocephalus, Attention deficit hyperactiv... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Neural tube defect, Inability to walk, Limb dystonia, Hydrocephalus, Attention deficit hyperactiv... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Inability to walk, Limb dystonia, Hydrocephalus, Attention deficit hyperactiv... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Neural tube defect, Inability to walk, Limb dystonia, Hydrocephalus, Attention deficit hyperactiv... |
ORPHA:93924 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Short-Rib Thoracic Dysplasia 12 |
|
Holoprosencephaly, Hydrocephalus, Anencephaly |
OMIM:269860 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:257300 |
Otopalatodigital Syndrome Type 2 |
|
Hydrocephalus, Myelomeningocele |
ORPHA:90652 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
Acrofacial Dysostosis 1, Nager Type |
|
Hydrocephalus, Aqueductal stenosis |
OMIM:154400 |
H Syndrome |
|
Hydrocephalus |
ORPHA:168569 |
Coccidioidomycosis |
|
CSF lymphocytic pleiocytosis, Hypoglycorrhachia, CSF pleocytosis, Hydrocephalus, Increased CSF pr... |
ORPHA:228123 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:236670 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus |
ORPHA:157 |
Mucopolysaccharidosis Type 1 |
|
Hydrocephalus |
ORPHA:579 |
Cardiofaciocutaneous Syndrome |
|
Hydrocephalus |
ORPHA:1340 |
Marden-Walker Syndrome |
|
Attention deficit hyperactivity disorder, Hydrocephalus |
ORPHA:2461 |
Hypoplasminogenemia |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:722 |
Shprintzen-Goldberg Craniosynostosis Syndrome |