Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Abnormality of neuronal migration, Ventriculomegaly |
OMIM:618709 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615938 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia |
ORPHA:2807 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygy... |
OMIM:300067 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615937 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Atypical Teratoid Rhabdoid Tumor |
|
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia |
ORPHA:99966 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:604213 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Masa Syndrome |
|
Lower limb spasticity, Short stature, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling ga... |
OMIM:303350 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Simplified gyral pattern |
OMIM:619470 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Ataxia, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypertonia, Pachygyria |
OMIM:618174 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Increased CSF protei... |
OMIM:203450 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly |
ORPHA:352682 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Short stature, Ataxia, Impaired pain sensation |
ORPHA:1532 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly, Type II lissencephaly |
OMIM:614830 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Pontocerebellar Hypoplasia, Type 15 |
|
Spastic tetraplegia, Hydrocephalus, Hypertonia, Simplified gyral pattern |
OMIM:619302 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ... |
ORPHA:73256 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Spastic paraplegia, Gray ma... |
OMIM:615191 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia |
ORPHA:444463 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida |
ORPHA:945 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Increased CSF lactate, Choreoathetosi... |
OMIM:616034 |
Fried Syndrome |
|
Hydrocephalus, Gait disturbance, Spastic diplegia |
ORPHA:85335 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly |
ORPHA:2185 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Gait disturbance |
ORPHA:26 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Type II lissencephaly |
ORPHA:324416 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function |
OMIM:300884 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Hypertonia |
ORPHA:250994 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Type II lissencephaly, Hydrocephalus, Gait disturbance, Intrauterine growth retardation, Ventricu... |
ORPHA:272 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Hypertonia, Short stature, Ataxia |
ORPHA:31 |
Alexander Disease Type I |
|
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal tremor |
ORPHA:363717 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Gray matter heterotopia, Cer... |
OMIM:207950 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, CSF lymphocytic pleiocytosis, Intrauterine growth retardation, Spasticity, Ventric... |
OMIM:610333 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Short stature, Delayed puberty |
ORPHA:141333 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hemiparesis, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus |
OMIM:615599 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Lissencephaly |
ORPHA:1528 |
L1 Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Gait disturbance, Spasticity |
ORPHA:275543 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus |
ORPHA:397951 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Postnatal growth retardation, Increased circulating IgE level, Short stature, Delayed puberty |
OMIM:618985 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral pattern, Lissencepha... |
OMIM:613153 |
Krabbe Disease |
|
Autoimmune thrombocytopenia, Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spastic... |
OMIM:245200 |
Griscelli Syndrome |
|
Encephalocele, Short stature, Ataxia, Hydrocephalus, Decreased circulating antibody level, Bone m... |
ORPHA:381 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity |
ORPHA:2182 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity |
OMIM:609054 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Akinesia, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Poly... |
OMIM:225790 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Polymicrogyria |
ORPHA:83473 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Spasticity, Spastic paraplegia, Hydrocephalus |
OMIM:307000 |
Nasu-Hakola Disease |
|
Chorea, Hydrocephalus, Oculomotor apraxia, Spasticity, Ventriculomegaly |
ORPHA:2770 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Spasticity, Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencephaly |
ORPHA:588 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia |
OMIM:220220 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Spastic tetraplegia |
OMIM:300886 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature, Ataxia |
ORPHA:1861 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:602501 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly... |
ORPHA:93274 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cerebral palsy, Short stature, Ataxia, Periventricular heterotopia, Hydrocephalus, Colpocephaly, ... |
OMIM:619833 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short stature |
ORPHA:1516 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature, Clumsiness |
OMIM:300558 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:2183 |
Amelocerebrohypohidrotic Syndrome |
|
Spasticity, Short stature, Hydrocephalus |
ORPHA:1946 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Temple Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
ORPHA:254516 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Polymicrogyria, Type II lissencephaly |
OMIM:615181 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Hydrocephalus, Gait disturbance |
ORPHA:2181 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity |
ORPHA:231154 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Hypertonia, Abnormality of neuronal migration |
ORPHA:1895 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Clonus, Hydrocephalus, Abnor... |
ORPHA:370959 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Gray matter heterotopia, Disproportionate short-limb short stature, Intrauterine g... |
ORPHA:2655 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Joubert Syndrome |
|
Encephalocele, Ataxia, Tremor, Hydrocephalus, Abnormality of neuronal migration, Gait disturbance... |
ORPHA:475 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity, Decre... |
OMIM:615190 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Short stature, Hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:609757 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Cerebral palsy, Ataxia, Abnormal central motor function, Autoimmunit... |
ORPHA:760 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Inability to walk, Hydrocephalus |
OMIM:613155 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Impaired T cell function, Hydrocephalus, Decreased specific anti-poly... |
OMIM:614576 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Ataxia, Periventricular heterotopia, Rigidity, Hydrocephalus, Spastic tetrapleg... |
OMIM:618476 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hydrocephalus, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fasc... |
OMIM:614969 |
Desmosterolosis |
|
Severe short stature, Abnormal cortical gyration, Rigidity, Hydrocephalus, Abnormality of neurona... |
ORPHA:35107 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hemiparesis, Hydrocephalus, Unsteady gait |
OMIM:617542 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia, Polymicrogyria |
ORPHA:220497 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation, Limb hypertonia |
OMIM:614219 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Hogue-Janssen Syndrome 2 |
|
Inability to walk, Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616362 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Hypertonia, Lissencephaly, Intrauterine growth retardation, Dandy-Walker malformation |
OMIM:612938 |
Multiple Sulfatase Deficiency |
|
Short stature, Ataxia, Hydrocephalus, Spasticity, Increased CSF protein concentration, Ventriculo... |
OMIM:272200 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Oculomotor apraxia, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:615630 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus, Bone marrow hypocellularity |
OMIM:617244 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... |
OMIM:615219 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Polymicrogyria, Ventriculomegaly |
OMIM:620156 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... |
ORPHA:1908 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Hydrocephalus |
OMIM:619111 |
Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Disproportionate short-trunk short stature, Gait disturbance |
OMIM:613330 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Polymicrogyria, Ataxia |
ORPHA:65285 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Postnatal growth retardation, Inability to walk, Simplified gyral pa... |
ORPHA:300570 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia, Polymicrogyria |
ORPHA:220493 |
Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Hypertonia, Spastic tetraparesis |
ORPHA:171839 |
Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Hydrocephalus, Lower limb hypertonia, Intrauterine growth retardati... |
ORPHA:2169 |
Pettigrew Syndrome |
|
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Spasticity, D... |
OMIM:304340 |
Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Wa... |
OMIM:611134 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus |
OMIM:300863 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly |
OMIM:603387 |
Glutaric Acidemia I |
|
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... |
OMIM:231670 |
Hemangioblastoma |
|
Dysesthesia, Hydrocephalus |
ORPHA:252054 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Short stature |
OMIM:241800 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Short stature |
ORPHA:2701 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Ventriculomegaly, Hydr... |
OMIM:614643 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:218350 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Growth delay, Ataxia, Communicating hydrocephalus, Decreased circulating antibody level |
OMIM:616084 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
Icf Syndrome |
|
Communicating hydrocephalus, Short stature, Decreased circulating antibody level |
ORPHA:2268 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal ... |
ORPHA:899 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Ataxia, Abnormality of neuronal migration |
ORPHA:2318 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:109120 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Growth delay, Decreased circulating total IgM, Lateral ventricle dilatation, Decre... |
OMIM:612301 |
Temple Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Short stature |
OMIM:616222 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Lissencephaly, Agyria, Type II lissencephaly |
OMIM:615249 |
Arachnoiditis |
|
Hydrocephalus, Paresthesia |
ORPHA:137817 |
Joubert Syndrome 14 |
|
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker malformation |
OMIM:614424 |
3C Syndrome |
|
Ventriculomegaly, Short stature, Postnatal growth retardation, Hydrocephalus, Abnormality of neur... |
ORPHA:7 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Agyria, Hydrocephalus, Lissencephaly, Holoprosenceph... |
OMIM:253800 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Athetosis... |
ORPHA:25 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Hemiplegia/hemiparesis, Hydrocephalus, Polymicrogyria, Ventriculomegaly |
ORPHA:1647 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Hypertonia, Short stature, Ataxia |
ORPHA:2720 |
Dural Sinus Malformation |
|
Somatic sensory dysfunction, Ataxia, Parkinsonism, Myelopathy, Hydrocephalus, Poor coordination, ... |
ORPHA:97339 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Oculomotor apraxia, Dand... |
OMIM:617822 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... |
OMIM:613154 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ventriculomegaly, Ataxia, Hydrocephalus, Hemiparesis, Gait disturbance, Sp... |
ORPHA:395 |
Bresek Syndrome |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus |
ORPHA:85284 |
Medulloblastoma |
|
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit... |
ORPHA:616 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus |
ORPHA:163966 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Hydrocephalus, Lethal short-limbed short stature, Disproportionate short... |
OMIM:187600 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp... |
ORPHA:268810 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Ventriculomegaly, Facial-lingual fasciculations, Hydrocephalus, Spa... |
OMIM:617281 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Short stature, Ataxia, Postnatal growth retardation, Spastic paraple... |
ORPHA:168577 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly |
ORPHA:1860 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hyd... |
OMIM:619895 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
ORPHA:60040 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Paraparesis, Hydrocephalus, S... |
ORPHA:2356 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Noncommunicating hydrocephalus, Clumsiness |
OMIM:619320 |
Congenital Sialidosis Type 2 |
|
Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Spasticity |
ORPHA:93400 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
Pelvis-Shoulder Dysplasia |
|
Waddling gait, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, ... |
ORPHA:2839 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
OMIM:616294 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Ataxia, Tremor, Hydrocephalus, Abnormality of neuronal migration, Gait d... |
ORPHA:1454 |
Tenorio Syndrome |
|
Cerebral palsy, Hydrocephalus, Clumsiness, Gait disturbance, Ventriculomegaly |
OMIM:616260 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly |
OMIM:616538 |
Trisomy 17P |
|
Short stature, Hydrocephalus, Growth delay, Hypertonia, Intrauterine growth retardation |
ORPHA:261290 |
Tetrasomy 15Q26 |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Short stature |
ORPHA:53 |
1Q44 Microdeletion Syndrome |
|
Growth delay, Hydrocephalus, Short stature, Ventriculomegaly |
ORPHA:238769 |
Triploidy |
|
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Emanuel Syndrome |
|
Torticollis, Ventriculomegaly, Hydrocephalus, Intrauterine growth retardation, Dandy-Walker malfo... |
OMIM:609029 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
ORPHA:59315 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Alexander Disease |
|
Ataxia, Clonus, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyramidal sign, Tetr... |
ORPHA:58 |
Monosomy 18Q |
|
Short stature, Hydrocephalus, Poor coordination, Growth delay, Choreoathetosis, Decreased circula... |
ORPHA:1600 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Short stature, Hydrocephalus, Ataxia |
ORPHA:220295 |
Lowry-Maclean Syndrome |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Hemiparesis |
ORPHA:2409 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Hydrocephalus, Gait disturbance, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Cerebral Visual Impairment |
|
Oculomotor apraxia, Hydrocephalus, Cerebral palsy, Clumsiness |
ORPHA:447788 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Autoimmune antibody positivity |
ORPHA:398124 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Growth delay, Hydrocephalus, Short stature |
OMIM:614886 |
Emanuel Syndrome |
|
Hydrocephalus, Growth delay, Intrauterine growth retardation, Dandy-Walker malformation, Ventricu... |
ORPHA:96170 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Short stature, Postnatal growth retardation, Hydrocephalus, Tetraplegia, Intrau... |
OMIM:257300 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Short stature, Dandy-Walker malformation |
ORPHA:459061 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Fanconi Anemia, Complementation Group B |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Osteopetrosis, Autosomal Recessive 5 |
|
Short stature, Clonus, Hydrocephalus, Spastic tetraplegia, Growth delay, Hypertonia, Ventriculome... |
OMIM:259720 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus |
OMIM:224400 |
Diabetic Embryopathy |
|
Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Fg Syndrome Type 1 |
|
Broad-based gait, Short stature, Hydrocephalus, Ventriculomegaly |
ORPHA:93932 |
Whipple Disease |
|
Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Ataxia |
ORPHA:3452 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Type II lissencephaly, Hydrocephalus, Pachygyria, Ventriculomegaly |
OMIM:613150 |
Hydrolethalus |
|
Hydrocephalus, Anencephaly |
ORPHA:2189 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Hydrocephalus, Rhizomelia |
OMIM:618162 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Oculomotor apraxia |
OMIM:608091 |
Tetrasomy 5P |
|
Postnatal growth retardation, Hydrocephalus |
ORPHA:3309 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Hydrocephalus |
OMIM:612940 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Abnormal sperm motility, Ventriculomegaly |
ORPHA:244 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Facial paralysis |
OMIM:259710 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Short stature, Hydrocephalus |
OMIM:613686 |
Achondroplasia |
|
Hydrocephalus, Disproportionate short stature, Rhizomelia |
ORPHA:15 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Gait disturbance, Ventriculomegaly |
ORPHA:1812 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Meningoencephalocel... |
OMIM:236670 |
Mirage Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Short stature, Paraplegia |
OMIM:617053 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Short stature |
OMIM:602361 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Short stature |
ORPHA:1834 |
Trisomy 1Q |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Polymicrogyria, Holoprosencephaly |
OMIM:264480 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Disproportionate short stature, Severe short stature, Rhizomelia, Hydrocephalus |
OMIM:616482 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Polymicrogyria, Pachygyria, Abnormality of neuronal migration |
ORPHA:157 |
Adams-Oliver Syndrome |
|
Hemiparesis, Encephalocele, Hypertonia, Hydrocephalus |
ORPHA:974 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pain insensitivity, Short stature, Hydrocephalus, Distal sensory impairment, Growth delay |
OMIM:616007 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Gaucher Disease |
|
Short stature, Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Increased circulating antib... |
ORPHA:355 |
Mucopolysaccharidosis, Type Ii |
|
Mild short stature, Hydrocephalus, Severe short stature, Short stature |
OMIM:309900 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Hydrocephalus, Disproportionate short-limb shor... |
OMIM:101800 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1064 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Ventriculomegaly |
ORPHA:228308 |
7Q11.23 Microduplication Syndrome |
|
Short stature, Hydrocephalus, Unsteady gait, Simplified gyral pattern, Dysmetria, Growth delay, V... |
ORPHA:96121 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Athetosis, Hydrocephalus |
OMIM:239300 |
Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Hydrocephalus |
ORPHA:2075 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Facial paralysis |
OMIM:259700 |
Mucopolysaccharidosis, Type Vii |
|
Postnatal growth retardation, Hydrocephalus, Severe short stature, Short stature |
OMIM:253220 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Severe short stature |
ORPHA:1865 |
Hurler Syndrome |
|
Cerebral palsy, Short stature, Hydrocephalus, Abnormal pyramidal sign, Growth delay, Spastic para... |
ORPHA:93473 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Short stature |
ORPHA:585 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Frequent falls, Normal pressure hydrocephalus |
OMIM:620351 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Inability to walk, Hydrocephalus, Increased circulating IgM level, Bone marrow hypocellularity, D... |
ORPHA:505248 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Occipital meningocele, Polymicrogyria, Ventriculomegaly |
OMIM:616546 |
Distal Triplication 15Q |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
ORPHA:314588 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Lateral ventricular asymmetry |
OMIM:616914 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Desmosterolosis |
|
Spasticity, Rhizomelia, Hydrocephalus, Ventriculomegaly |
OMIM:602398 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Spasticity, Short stature, Hydrocephalus |
OMIM:305450 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Spasticity, Hydrocephalus |
OMIM:618590 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Focal polymicrogyria |
OMIM:612651 |
Neurooculorenal Syndrome |
|
Postnatal growth retardation, Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:620305 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malfor... |
OMIM:605627 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus |
ORPHA:2306 |
Craniopharyngioma |
|
Proportionate short stature, Postnatal growth retardation, Hydrocephalus, Growth delay, Delayed p... |
ORPHA:54595 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus, Delayed puberty |
ORPHA:91348 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
Mucopolysaccharidosis Type 1 |
|
Hemiplegia/hemiparesis, Hydrocephalus, Short stature, Paresthesia |
ORPHA:579 |
Fanconi Anemia, Complementation Group L |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Bone marrow hypocellularity |
OMIM:614083 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Lateral Meningocele Syndrome |
|
Hydrocephalus, Meningocele, Short stature |
OMIM:130720 |
Cardiofaciocutaneous Syndrome 1 |
|
Oculomotor apraxia, Hydrocephalus, Hypertonia, Short stature |
OMIM:115150 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head titubation,... |
OMIM:619475 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Hypertonia, Gait disturbance,... |
ORPHA:581 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Chorea, Abnormality of neuronal migration, Spinal dysraphism, Holop... |
ORPHA:2162 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus |
OMIM:619951 |
47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Coccidioidomycosis |
|
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Increased circulating IgG level, In... |
ORPHA:228123 |
Chromosome 17P13.1 Deletion Syndrome |
|
Ankle clonus, Hydrocephalus, Spina bifida |
OMIM:613776 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Growth delay, Hypert... |
ORPHA:2072 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Hydrocephalus, Growth delay, Poor fine motor coordination, Intrauterine growth retardation |
ORPHA:79282 |
Achondroplasia |
|
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia |
OMIM:100800 |
Marshall-Smith Syndrome |
|
Short stature, Hydrocephalus, Macrogyria, Hypertonia, Pachygyria, Ventriculomegaly |
OMIM:602535 |
Dubowitz Syndrome |
|
Short stature, Postnatal growth retardation, Hydrocephalus, Intrauterine growth retardation, Spin... |
ORPHA:235 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Hurler Syndrome |
|
Hydrocephalus, Short stature |
OMIM:607014 |
Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Short stature, Hydrocephalus |
OMIM:245600 |
Jacobsen Syndrome |
|
Intrauterine growth retardation, Spasticity, Hydrocephalus, Holoprosencephaly |
OMIM:147791 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Cryptococcosis |
|
Hydrocephalus, Autoimmunity, Systemic lupus erythematosus |
ORPHA:1546 |
15Q Overgrowth Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
ORPHA:314585 |
1Q21.1 Microdeletion Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Short stature |
ORPHA:250989 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Disproportionate short stature, Rhizomelia |
OMIM:260660 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Short stature, Lateral ventricle dilatation |
OMIM:619575 |
Aymé-Gripp Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Short stature, Ventriculomegaly |
ORPHA:1272 |
Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
Short-Rib Thoracic Dysplasia 12 |
|
Intrauterine growth retardation, Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Mohr Syndrome |
|
Hydrocephalus, Short stature |
OMIM:252100 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus |
ORPHA:3301 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
H Syndrome |
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Hydrocephalus, Short stature, Delayed puberty |
ORPHA:168569 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function |
OMIM:277400 |
Orofaciodigital Syndrome I |
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Short stature, Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia |
OMIM:311200 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Postnatal growth retardation, Torticollis, Hydrocephalus |
ORPHA:536467 |
Osteogenesis Imperfecta |
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Somatic sensory dysfunction, Rhizomelia, Short stature, Ataxia, Hydrocephalus, Noncommunicating h... |
ORPHA:666 |
Fanconi Anemia, Complementation Group D2 |
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Hydrocephalus, Short stature, Bone marrow hypocellularity |
OMIM:227646 |
Full Nf2-Related Schwannomatosis |
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Somatic sensory dysfunction, Myelopathy, Hydrocephalus, Unsteady gait, Hemiparesis, Hyperesthesia |
ORPHA:637 |
22Q11.2 Deletion Syndrome |
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Short stature, Autoimmunity, Impaired T cell function, Spina bifida, Hydrocephalus, Meningocele, ... |
ORPHA:567 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Hydrocephalus |
OMIM:207410 |
Thoracoabdominal Syndrome |
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Hydrocephalus, Anencephaly |
OMIM:313850 |
Cockayne Syndrome A |
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Short stature, Ataxia, Tremor, Severe postnatal growth retardation, Normal pressure hydrocephalus... |
OMIM:216400 |
Beare-Stevenson Cutis Gyrata Syndrome |
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Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
Cardiofaciocutaneous Syndrome |
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Hydrocephalus, Short stature |
ORPHA:1340 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Ventriculomegaly, Hydrocephalus, Myoclonus, Spasticity, Pachygyria, Polymicrogyria, Type II lisse... |
OMIM:253280 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Abnormal cortical gyration, Hydrocephalus, Disproportionate short stature, Microlissencephaly, Se... |
OMIM:210710 |
Acrofacial Dysostosis 1, Nager Type |
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Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Short stature |
OMIM:154400 |
Holoprosencephaly 9 |
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Hydrocephalus, Holoprosencephaly, Short stature, Abnormal cortical gyration |
OMIM:610829 |
Apert Syndrome |
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Rhizomelic arm shortening, Hydrocephalus, Ventriculomegaly |
OMIM:101200 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Mend Syndrome |
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Hydrocephalus, Hypertonia, Short stature, Dandy-Walker malformation |
OMIM:300960 |
Mend Syndrome |
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Hydrocephalus, Short stature, Dandy-Walker malformation, Limb hypertonia |
ORPHA:401973 |
Mucopolysaccharidosis, Type Vi |
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Cervical myelopathy, Hydrocephalus, Short stature, Disproportionate short-trunk short stature |
OMIM:253200 |
Thakker-Donnai Syndrome |
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Communicating hydrocephalus, Intrauterine growth retardation |
ORPHA:1780 |
Smith-Lemli-Opitz Syndrome |
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Short stature, Periventricular heterotopia, Hydrocephalus, Growth delay, Colpocephaly, Hypertonia... |
OMIM:270400 |
Laurin-Sandrow Syndrome |
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Hydrocephalus |
ORPHA:2378 |
Ciliary Dyskinesia, Primary, 1 |
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Communicating hydrocephalus |
OMIM:244400 |
Otopalatodigital Syndrome Type 2 |
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Encephalocele, Myelomeningocele, Hydrocephalus |
ORPHA:90652 |
Semilobar Holoprosencephaly |
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Abnormal central motor function, Short stature, Inability to walk, Hydrocephalus, Oromotor apraxi... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Abnormal central motor function, Short stature, Inability to walk, Hydrocephalus, Oromotor apraxi... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Abnormal central motor function, Short stature, Inability to walk, Hydrocephalus, Oromotor apraxi... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Abnormal central motor function, Short stature, Inability to walk, Hydrocephalus, Oromotor apraxi... |
ORPHA:93924 |
Raine Syndrome |
|
Hydrocephalus, Short stature |
OMIM:259775 |
Osteootohepatoenteric Syndrome |
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Hydrocephalus |
OMIM:619377 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Hydrocephalus |
OMIM:104350 |
Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
Gaucher Disease, Type Iiic |
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Hydrocephalus |
OMIM:231005 |
Cockayne Syndrome B |
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Severe short stature, Ataxia, Postnatal growth retardation, Tremor, Normal pressure hydrocephalus... |
OMIM:133540 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Hydrocephalus |
OMIM:182212 |
Meningioma |
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Hemifacial spasm, Abnormal central motor function, Ataxia, Hydrocephalus, Hemiparesis, Difficulty... |
ORPHA:2495 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Speech apraxia, Spina bifida, Postnatal growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Speech apraxia, Spina bifida, Postnatal growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:363958 |
Monosomy 9Q22.3 |
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Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hydrocephalus, Short stature, Colpocephaly |
OMIM:309801 |
Osteopathia Striata With Cranial Sclerosis |
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Hydrocephalus, Spina bifida occulta, Short stature |
OMIM:300373 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
Tetrasomy 9P |
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Hydrocephalus, Systemic lupus erythematosus, Lissencephaly, Intrauterine growth retardation, Pach... |
ORPHA:3310 |
Marden-Walker Syndrome |
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Growth delay, Intrauterine growth retardation, Hydrocephalus, Severe short stature |
ORPHA:2461 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Aqueductal stenosis, Hydrocephalus |
OMIM:619512 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:617011 |
Meckel Syndrome, Type 1 |
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Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... |
OMIM:249000 |
Hyperparathyroidism, Transient Neonatal |
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Communicating hydrocephalus, Ventriculomegaly |
OMIM:618188 |
Hypoplasminogenemia |
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Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Spastic paraplegia, Ataxia, Clumsiness |
ORPHA:309282 |
Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
Stromme Syndrome |
|
Hydrocephalus |
OMIM:243605 |
Wiedemann-Rautenstrauch Syndrome |
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Short stature, Ataxia, Action tremor, Tremor, Hydrocephalus, Growth delay, Hypertonia, Severe int... |
ORPHA:3455 |
Basal Cell Nevus Syndrome 1 |
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Hydrocephalus, Spina bifida |
OMIM:109400 |
Kabuki Syndrome |
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Hydrocephalus, Short stature, Ventriculomegaly |
ORPHA:2322 |
Neurofibromatosis Type 1 |
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Short stature, Ataxia, Hydrocephalus, Paresthesia, Delayed puberty |
ORPHA:636 |
Fanconi Anemia |
|
Short stature, Spina bifida, Hydrocephalus, Growth delay, Intrauterine growth retardation, Ventri... |
ORPHA:84 |
Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus |
ORPHA:268249 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Short stature, Delayed puberty |
ORPHA:955 |
Meckel Syndrome |
|
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation |
ORPHA:564 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:163979 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Ventriculomegaly, Difficulty walking, Gait ataxia |
ORPHA:457359 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Delayed puberty |
ORPHA:95699 |
Fontaine Progeroid Syndrome |
|
Short stature, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Intrauterine ... |
OMIM:612289 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Hydrocephalus, Tremor |
ORPHA:667 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:2462 |
Kabuki Syndrome 1 |
|
Short stature, Autoimmune thrombocytopenia, Postnatal growth retardation, Hydrocephalus, Growth d... |
OMIM:147920 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Short stature |
OMIM:102500 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat... |
OMIM:114290 |
Histiocytoid Cardiomyopathy |
|
Hemiplegia, Hydrocephalus |
ORPHA:137675 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus, Short stature, Gait disturbance |
ORPHA:3042 |
Trisomy 8P |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:264450 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
Wiedemann-Rautenstrauch Syndrome |
|
Short stature, Hydrocephalus, Hypertonia, Truncal ataxia, Intrauterine growth retardation, Dandy-... |
OMIM:264090 |
Yunis-Varon Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Pachygyria, Short stature |
ORPHA:3472 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
Wolf-Hirschhorn Syndrome |
|
Short stature, Hydrocephalus, Growth delay, Severe postnatal growth retardation, Intrauterine gro... |
OMIM:194190 |
Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Hydrocephalus, Spina bifida occulta, Severe intrauterine gro... |
OMIM:218600 |
Peters Plus Syndrome |
|
Rhizomelia, Short stature, Postnatal growth retardation, Hydrocephalus, Disproportionate short-li... |
ORPHA:709 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Severe short stature |
ORPHA:2658 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intrauterine growth retardation, Hydrocephalus, Short stature |
OMIM:619321 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Intrauter... |
OMIM:236680 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Short stature, Poor coordination, Limb tremor, Mild fetal ventriculo... |
OMIM:619841 |
Pseudoaminopterin Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:221120 |
Fraser Syndrome 1 |
|
Encephalocele, Hydrocephalus, Myelomeningocele, Abnormal cortical gyration |
OMIM:219000 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Short stature |
ORPHA:1106 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Myelomeningocele, Hydrocephalus |
OMIM:306955 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Growth delay, Hydrocephalus, Severe short stature |
ORPHA:2556 |
Split Cord Malformation |
|
Paraparesis, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Cervical spina b... |
ORPHA:573278 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Lower limb dysmetria, Short stature |
ORPHA:363700 |
Costello Syndrome |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:218040 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Growth delay, Lateral ventricle dilatation, Pachygyria, Polymicrogyria |
OMIM:607872 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Hemiplegia, Spasticity, Facial paralysis |
OMIM:175780 |
Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:261337 |
Lymphangioleiomyomatosis |
|
Hydrocephalus |
ORPHA:538 |
Peters-Plus Syndrome |
|
Rhizomelia, Postnatal growth retardation, Hydrocephalus, Birth length less than 3rd percentile, D... |
OMIM:261540 |
Fetal Akinesia Deformation Sequence 1 |
|
Intrauterine growth retardation, Hydrocephalus |
OMIM:208150 |
Mucopolysaccharidosis Type 2 |
|
Growth delay, Short stature, Communicating hydrocephalus |
ORPHA:580 |
Focal Dermal Hypoplasia |
|
Hydrocephalus, Spina bifida occulta, Short stature, Myelomeningocele |
OMIM:305600 |
Otopalatodigital Syndrome, Type Ii |
|
Postnatal growth retardation, Hydrocephalus, Short stature, Spina bifida |
OMIM:304120 |
Oeis Complex |
|
Myelomeningocele, Hydrocephalus |
OMIM:258040 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Short stature, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, Spasticity |
OMIM:619534 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Coffin-Siris Syndrome 12 |
|
Short stature, Noncommunicating hydrocephalus |
OMIM:619325 |
Roberts-Sc Phocomelia Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Frontal encephalocele, Severe intrauterine growth re... |
OMIM:268300 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus |
OMIM:610168 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus |
OMIM:312870 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:164210 |