Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Schwannomatosis 2 |
|
Schwannoma, Spinal cord tumor |
OMIM:615670 |
Adrenocortical Carcinoma, Hereditary |
|
Adrenocortical carcinoma, Choroid plexus carcinoma |
OMIM:202300 |
Meningioma, Familial, Susceptibility To |
|
Meningioma |
OMIM:607174 |
Prostate Cancer/Brain Cancer Susceptibility |
|
Neoplasm of the central nervous system, Prostate cancer |
OMIM:603688 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Glioma Susceptibility 2 |
|
Oligodendroglioma, Meningioma |
OMIM:613028 |
Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma, Spinal cord tumor, Meningioma |
OMIM:162091 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Medulloblastoma, Choroid plexus carcinoma |
OMIM:609322 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251636 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon |
ORPHA:447877 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum |
ORPHA:1496 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Lissencephaly 4 |
|
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature |
OMIM:614019 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Short stature, Decreased body weight |
OMIM:619420 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age |
OMIM:619278 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Pontocerebellar Hypoplasia, Type 12 |
|
Hypoplasia of the brainstem, Lateral ventricle dilatation |
OMIM:618266 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
OMIM:129850 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Breast carcinoma |
OMIM:135290 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem |
ORPHA:77299 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Masa Syndrome |
|
Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Hypoplasia of the brainstem, Agenesis of corpus callosum, Colpocephaly |
ORPHA:250972 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation |
ORPHA:3035 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation, Short stature |
OMIM:618330 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... |
OMIM:618736 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Intrauterine growth retardation |
ORPHA:1788 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilatation, Abnormal brain... |
ORPHA:300573 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr... |
ORPHA:733 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis ... |
OMIM:619895 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Neuroblastoma, Susceptibility To, 2 |
|
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma |
OMIM:613013 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Hypoplasia of the ventral pons |
OMIM:607596 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation, Short stature |
ORPHA:2065 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Spinal cord tumor, Ovarian neoplasm, Peripheral primiti... |
ORPHA:370348 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive |
ORPHA:26 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Partial agenesis of the corpus callosum, Increased CSF lactate, Latera... |
ORPHA:79243 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation |
ORPHA:85290 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis |
ORPHA:93258 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Short stature, Obesity, Delayed puberty |
ORPHA:141333 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Enlarged fossa interpeduncularis, Elongated superior cerebellar peduncle... |
OMIM:608629 |
Diencephalic Syndrome |
|
Hydrocephalus, Cachexia, Decreased body weight |
ORPHA:1672 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Lateral ventricle dilatation |
OMIM:615716 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Failure to thrive in infancy |
ORPHA:284417 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypoplasia of the brainstem, Partial agenesis of the corpus callosum, Agenesis of corpus callosum... |
OMIM:619302 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair |
OMIM:229200 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Small for gestational age, Severe postnatal growth retardation, Lateral... |
ORPHA:3078 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Dilated th... |
OMIM:613154 |
Pontocerebellar Hypoplasia, Type 13 |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Failure to thrive, Dandy-Walker malformation |
OMIM:618606 |
Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Bilateral vestibular schwannoma, Paraspinal neurofibroma, Palmar neurofibroma, Lisch nodules, Men... |
OMIM:162260 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation |
OMIM:251230 |
Bilateral Generalized Polymicrogyria |
|
Growth delay, Lateral ventricle dilatation, Short stature |
ORPHA:208447 |
Neurooculorenal Syndrome |
|
Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos... |
OMIM:620305 |
Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Medulloblastoma, Neuroblastoma |
OMIM:610832 |
Cach Syndrome |
|
Growth delay, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affect... |
ORPHA:135 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:304100 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Glutaric Acidemia I |
|
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation |
OMIM:231670 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Intrauterine growth retardation, Hypoplasia of the brainstem, Lateral v... |
OMIM:617751 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation |
OMIM:610015 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Short stature |
ORPHA:1532 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Growth delay, Intrauterine growth retardation, Abnormal lateral ventricle morphology |
ORPHA:488635 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem |
ORPHA:352682 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum |
ORPHA:58 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Failure to thrive |
ORPHA:250994 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Malan Overgrowth Syndrome |
|
Hypoplasia of the brainstem, Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:420179 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos... |
OMIM:619512 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Progressive Non-Fluent Aphasia |
|
Brain neoplasm |
ORPHA:100070 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Spina bifida occulta, Ventriculomegaly, Extra-axial cerebrospinal f... |
OMIM:618291 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis |
ORPHA:93260 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Short stature |
OMIM:619995 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft |
OMIM:617542 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Congenital Central Hypoventilation Syndrome |
|
Neoplasm of the central nervous system, Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma |
ORPHA:661 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Obesity, Partial agenesis of the corpus ca... |
OMIM:617296 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Pontocerebellar atrophy, Lateral ventricle dilatation |
OMIM:617854 |
Slc35A2-Cdg |
|
Short stature, Abnormal midbrain morphology, Failure to thrive in infancy, Lateral ventricle dila... |
ORPHA:356961 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age |
OMIM:618302 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Failure to thrive in infancy, Ventricul... |
ORPHA:488627 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... |
OMIM:616034 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature, Obesity |
ORPHA:2183 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Pheochromocytoma/Paraganglioma Syndrome 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Lateral ventricle dilatation, Short stature |
OMIM:619847 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine growth retardation, Agene... |
OMIM:612863 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Increased CSF lactate, Atrophy/Deg... |
ORPHA:565624 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hypoplasia of the brainstem, Short stature, Hydrocephalus |
OMIM:618174 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Failure to thrive, Short stature, Rhizomelic leg short... |
ORPHA:397715 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Obesity |
OMIM:601794 |
Aicardi-Goutieres Syndrome 4 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Platelet Disorder, Undefined |
|
Neuroblastoma, Hematological neoplasm |
OMIM:173420 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Blue Rubber Bleb Nevus |
|
Hemangioma, Cerebellar medulloblastoma |
OMIM:112200 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly |
ORPHA:858 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum |
OMIM:300952 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Obesity |
OMIM:616521 |
Alexander Disease Type I |
|
Hydrocephalus, Failure to thrive, Cachexia |
ORPHA:363717 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Intrauterine growt... |
OMIM:225790 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Medulloblastoma |
|
Medulloblastoma, Spinal cord tumor, Neoplasm of the lung, Neuroblastoma, Cerebellar medulloblastoma |
ORPHA:616 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... |
ORPHA:83469 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Short stature |
OMIM:154400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation |
OMIM:618914 |
Cog5-Cdg |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Short stature, Atrophy/Degeneratio... |
ORPHA:263487 |
Temple Syndrome |
|
Small for gestational age, Short stature, Postnatal growth retardation, Hydrocephalus, Obesity |
ORPHA:254516 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Lateral ventricle dilatation, Intrauterine... |
ORPHA:572798 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Agenesis of... |
OMIM:613153 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Lissencephaly 5 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Hydrocephalus |
OMIM:615191 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Postnatal growth retardation, Partial agenesis of the corpus callosum, Hypoplasia of the brainste... |
ORPHA:300570 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Short stature, Failure to thrive in infancy, Postnatal growth retardation, Lateral ve... |
OMIM:611209 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Myelomeningocele, Failure to thrive, Hydrocephalus |
OMIM:306955 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Failure to thrive, Short stature, Overweight, Hydrocephalus, Lateral ventricle dilatation, Dilate... |
OMIM:619575 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma |
ORPHA:69077 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Medulloblastoma |
ORPHA:199276 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Short stature |
ORPHA:31 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Lateral ventricle dilatation, Decreased body weight, Intrauterine growth ret... |
OMIM:619229 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Large for gest... |
ORPHA:544488 |
Distal Deletion 10Q |
|
Short stature, Postnatal growth retardation, Spina bifida occulta, Lateral ventricle dilatation, ... |
ORPHA:96148 |
Charge Syndrome |
|
Short stature, Aqueductal stenosis, Postnatal growth retardation, Holoprosencephaly, Delayed pube... |
ORPHA:138 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Lateral ventricle dilatation, Abnormal substantia nigra morphology, Obesity |
ORPHA:2822 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Benign neoplasm of the central nervous system, Hamartoma of tongue |
ORPHA:1338 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Lateral ventricle dilatation, Disproportionate short-limb short stature,... |
OMIM:619479 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Intrauterine gro... |
OMIM:611134 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short stature |
ORPHA:1516 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Noonan Syndrome 14 |
|
Lateral ventricle dilatation, Short stature |
OMIM:619745 |
Aicardi-Goutieres Syndrome 9 |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Failure to thrive, Weight loss |
OMIM:619487 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus |
OMIM:615181 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
Krabbe Disease |
|
Hydrocephalus, Failure to thrive, Increased CSF protein concentration |
OMIM:245200 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Temple Syndrome |
|
Short stature, Small for gestational age, Overweight, Hydrocephalus, Obesity, Truncal obesity, In... |
OMIM:616222 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Short stature, Hydrocephalus, Failure to thrive, Ventriculomegaly |
OMIM:609757 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1861 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the brainstem, Hydrocephalus |
OMIM:613155 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Short stature, Small for gestational age, Lateral ventricle dilatation,... |
OMIM:619869 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma |
OMIM:601399 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
Bainbridge-Ropers Syndrome |
|
Growth delay, Intrauterine growth retardation, Lateral ventricle dilatation, Failure to thrive |
OMIM:615485 |
Yellow Nail Syndrome |
|
Neoplasm of the lung, Renal neoplasm, Neoplasm, Sarcoma |
ORPHA:662 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Olivopontocerebellar hypoplasia, Hypoplasia of... |
ORPHA:370959 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... |
ORPHA:77301 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Failure to thrive, V... |
OMIM:619833 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Microtriplication 11Q24.1 |
|
Keratoconus, Synophrys, Long eyelashes, Thick eyebrow |
ORPHA:289522 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation |
ORPHA:457279 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... |
OMIM:109400 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Keratoglobus, Astigmatism |
OMIM:108145 |
Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Brain neoplasm, Choroidal melanoma, Non-medullary thyroid carcinoma, Ovari... |
ORPHA:273 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Failure to thrive |
OMIM:269920 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation |
OMIM:300863 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Neoplasm of the nervous system, Ganglioneuroblastoma |
ORPHA:2151 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
Aicardi Syndrome |
|
Spina bifida, Postnatal growth retardation, Partial agenesis of the corpus callosum, Choroid plex... |
OMIM:304050 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Hirsutism, Decreased corneal thickness |
ORPHA:293967 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
ORPHA:464738 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:1692 |
Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Lateral ventricle dilatation |
OMIM:617557 |
Halperin-Birk Syndrome |
|
Colpocephaly, Intrauterine growth retardation, Failure to thrive, Agenesis of corpus callosum, Ve... |
OMIM:618651 |
1Q44 Microdeletion Syndrome |
|
Short stature, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Short stature, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive |
OMIM:619534 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Short stature, Obesity, Ventriculomegaly |
OMIM:615630 |
Weaver Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:277590 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
ORPHA:1895 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma |
ORPHA:314478 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Hydrocephalus, Hypoplasia of the brainstem, Intrauterine growth ret... |
ORPHA:2169 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Short stature |
OMIM:241800 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... |
ORPHA:1908 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Short stature |
ORPHA:2701 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Small for gestational age, Hydrocephalus, Disproportionate short-trunk short stature |
OMIM:613330 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Colpocephaly, Decreased body weight, Intrauterine growth retardation, Agenesis of ... |
OMIM:609053 |
Thanatophoric Dysplasia |
|
Intrauterine growth retardation, Hydrocephalus, Disproportionate short-limb short stature, Ventri... |
ORPHA:2655 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Failure to thrive |
OMIM:614098 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Prader-Willi Syndrome Due To Translocation |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Short stature, Obesity |
ORPHA:177907 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Short stature |
OMIM:618367 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation |
ORPHA:163966 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Conjunctivitis, Sparse hair |
OMIM:242150 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hypoplasia of the pons, Hydrocephalus, Failure to thrive |
OMIM:620157 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal... |
OMIM:620113 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:60040 |
B4Galt1-Cdg |
|
Hydrocephalus, Small for gestational age, Dandy-Walker malformation |
ORPHA:79332 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Obesity |
ORPHA:171839 |
Nijmegen Breakage Syndrome |
|
Lymphoma, Medulloblastoma, Glioma, Rhabdomyosarcoma |
OMIM:251260 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Tetrasomy 15Q26 |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Obesity |
ORPHA:2180 |
Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Hydrocephalus |
OMIM:615249 |
Costello Syndrome |
|
Keratoconus, Woolly hair, Generalized hyperpigmentation, Abnormal hair morphology |
ORPHA:3071 |
Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Obesity, Truncal obesity, Lateral ventricle dilatation, Intrauterine growth retard... |
OMIM:615873 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Failure to thrive, Short stature |
OMIM:602361 |
Bresek Syndrome |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus |
ORPHA:85284 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Pineoblastoma |
|
Retinoblastoma, Pinealoma |
ORPHA:251909 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Brainstem dysplasia, Hydrocephalus, Hypoplasia o... |
OMIM:608091 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Abnormal pons morphology, Lateral ventricle dilatation, Large for gestational age |
OMIM:300868 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Short stature, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Short stature, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Intrauterine growth retardation, Hydrocephalus, Failure to thrive, Dandy-Walker malformation |
OMIM:612938 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus |
OMIM:617244 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Growth delay, Hypoplasia of the brainstem, Molar tooth... |
OMIM:614424 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Short stature |
ORPHA:53 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation |
OMIM:263520 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Disproportionate short stature, Severe po... |
OMIM:210710 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum |
OMIM:612940 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches |
ORPHA:2067 |
Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Hydrolethalus |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
ORPHA:2189 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Growth delay, Intrauterine growth retardation, Failure to thrive, Ventriculomegaly |
OMIM:614576 |
Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
OMIM:616294 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1064 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Growth delay, Hydrocephalus, Short stature, Decreased body weight |
OMIM:614886 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus |
ORPHA:401777 |
Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation, Short stature |
OMIM:181270 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Short stature, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617260 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Short stature, Ventriculomegaly, Disproportionate short-tr... |
ORPHA:1855 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Short stature |
ORPHA:381 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Encephalocele, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:220497 |
Angelman Syndrome |
|
Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:72 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Triploidy |
|
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormal brainstem morphology, Short stature |
ORPHA:2720 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Short stature, Overweight, Hydrocephalus, Dilated third ventricle, Ventriculom... |
ORPHA:500055 |
Bohring-Opitz Syndrome |
|
Nephroblastoma, Medulloblastoma |
ORPHA:97297 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... |
ORPHA:636 |
Desmosterolosis |
|
Rhizomelia, Hydrocephalus, Partial agenesis of the corpus callosum, Failure to thrive, Ventriculo... |
OMIM:602398 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Kabuki Syndrome 1 |
|
Short stature, Postnatal growth retardation, Hydrocephalus, Growth delay, Lateral ventricle dilat... |
OMIM:147920 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Dandy-Walker malf... |
OMIM:617822 |
Fanconi Anemia, Complementation Group B |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Intrauterine growth retardation, Lateral ventricle dilatation |
OMIM:300896 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventricul... |
OMIM:613150 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly |
ORPHA:1860 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short stature, Small for gestational age, Postnatal growth retardation, Hydrocephalus, Intrauteri... |
OMIM:257300 |
Emanuel Syndrome |
|
Failure to thrive, Hydrocephalus, Growth delay, Intrauterine growth retardation, Dandy-Walker mal... |
ORPHA:96170 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplas... |
OMIM:614643 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Shallow anterior chamber, Hypoplastic ni... |
OMIM:230740 |
Emanuel Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, Ven... |
OMIM:609029 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Neonatal short-limb short stature, Severe short stature |
OMIM:224400 |
Trisomy 1Q |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:261344 |
Desmosterolosis |
|
Severe short stature, Hydrocephalus, Growth delay, Intrauterine growth retardation, Failure to th... |
ORPHA:35107 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
3C Syndrome |
|
Short stature, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation, Ventriculo... |
ORPHA:7 |
Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Encephalocele, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:220493 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus |
ORPHA:542306 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Achondroplasia |
|
Hydrocephalus, Disproportionate short stature, Rhizomelia, Obesity |
ORPHA:15 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Proportionate short stature, Dysplastic corpus callosum, Lateral ve... |
ORPHA:500150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb short stature |
OMIM:187600 |
Rabin-Pappas Syndrome |
|
Hypoplasia of the pons, Hydrocephalus, Failure to thrive in infancy, Obesity |
OMIM:620155 |
Monosomy 22 |
|
Gonadal neoplasm, Schwannoma, Meningioma, Sarcoma |
ORPHA:96123 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... |
ORPHA:2839 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Diabetic Embryopathy |
|
Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
Icf Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:2268 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Short stature, Hydrocephalus |
OMIM:613686 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
ORPHA:2836 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Failure to thrive |
OMIM:259700 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Short stature |
ORPHA:585 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Short stature, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Hydrocephalus |
ORPHA:2075 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Encephalocele, Hydrocephalus |
ORPHA:2318 |
Trisomy 17P |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Short stature |
ORPHA:261290 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
Cowden Syndrome |
|
Endometrial carcinoma, Follicular thyroid carcinoma, Cavernous hemangioma, Breast carcinoma, Hama... |
ORPHA:201 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma |
OMIM:619750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Tetrasomy 5P |
|
Postnatal growth retardation, Hydrocephalus, Failure to thrive |
ORPHA:3309 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:613001 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Obesity, Growth delay, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:607872 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin... |
OMIM:616546 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:395 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Holoprosencephaly, Agenesis of corpus ... |
OMIM:253800 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Khan-Khan-Katsanis Syndrome |
|
Short stature, Colpocephaly, Intrauterine growth retardation, Failure to thrive, Ventriculomegaly |
OMIM:618460 |
Warburg-Cinotti Syndrome |
|
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness |
OMIM:618175 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
47,Xyy Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology |
ORPHA:8 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Failure to thrive, Weight loss |
OMIM:619377 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Short stature, Cachexia |
ORPHA:220295 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, Agenesis of cor... |
ORPHA:250989 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Limbal stem cell d... |
ORPHA:2363 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Short stature |
ORPHA:1834 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Testicular neoplasm, Angiofib... |
ORPHA:276152 |
Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
Lowry-Maclean Syndrome |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus |
ORPHA:2409 |
Mirage Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Short stature, Decreased body weight |
OMIM:617053 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Hypoplasia of the... |
OMIM:236670 |
Distal Triplication 15Q |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Large for gestational age |
ORPHA:314588 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus, Severe short stature, Rhizomelia, Disproportionate short stature |
OMIM:616482 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:264480 |
Choreoacanthocytosis |
|
Lateral ventricle dilatation, Weight loss |
ORPHA:2388 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Severe short stature |
ORPHA:1865 |
Fg Syndrome Type 1 |
|
Hydrocephalus, Short stature, Slender build, Ventriculomegaly |
ORPHA:93932 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Failure to thrive |
ORPHA:974 |
Mucopolysaccharidosis, Type Ii |
|
Mild short stature, Hydrocephalus, Severe short stature, Short stature |
OMIM:309900 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum |
ORPHA:1780 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Mild postnatal growth retardation, Short stature, Hydrocephalus, Dispr... |
OMIM:101800 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Holoprosencephaly 13, X-Linked |
|
Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly, Alobar holoprosencephaly |
OMIM:301043 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:475 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Postnatal growth retardation, Short stature |
ORPHA:168577 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation, Ventriculo... |
OMIM:605627 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus, Delayed puberty |
ORPHA:91348 |
Apert Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:87 |
Achondroplasia |
|
Brain stem compression, Hydrocephalus, Neonatal short-limb short stature, Rhizomelia |
OMIM:100800 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Colpocephaly, Intrauterine growth retardation, Failure to thrive, Agen... |
OMIM:614866 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly, Failure to thrive, Short stature |
OMIM:620083 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Craniopharyngioma |
|
Proportionate short stature, Postnatal growth retardation, Hydrocephalus, Obesity, Growth delay, ... |
ORPHA:54595 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus |
ORPHA:2306 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Olivopontocerebellar hypoplasia |
ORPHA:457284 |
Whipple Disease |
|
Hydrocephalus, Cachexia |
ORPHA:3452 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus, Intrauterine growth retardation |
OMIM:616914 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Astigmatism |
OMIM:208050 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus |
OMIM:619951 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:228308 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... |
OMIM:610828 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma |
ORPHA:33001 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Mucopolysaccharidosis, Type Vii |
|
Postnatal growth retardation, Hydrocephalus, Severe short stature, Short stature |
OMIM:253220 |
Monosomy 18Q |
|
Short stature, Hydrocephalus, Growth delay, Failure to thrive, Slender build |
ORPHA:1600 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Lateral Meningocele Syndrome |
|
Hydrocephalus, Meningocele, Short stature |
OMIM:130720 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:157 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Parathyroid adenoma, Ut... |
ORPHA:99880 |
Osteopetrosis, Autosomal Recessive 5 |
|
Growth delay, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:259720 |
15Q Overgrowth Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malform... |
ORPHA:314585 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Mohr Syndrome |
|
Hydrocephalus, Short stature |
OMIM:252100 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Uterine leiomyoma, Thyr... |
ORPHA:143 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Keratoglobus |
ORPHA:3342 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
Stromme Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:243605 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Growth delay, Hydrocephalus, Short stature |
OMIM:616007 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Rhizomelia |
OMIM:618162 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Disproportionate short stature, Rhizomelia |
OMIM:260660 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:618820 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Failure to thrive |
OMIM:277400 |
6Q Terminal Deletion Syndrome |
|
Colpocephaly, Failure to thrive, Obesity |
ORPHA:75857 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Failure to thrive, Hydrocephalus |
ORPHA:90652 |
Apert Syndrome |
|
Rhizomelic arm shortening, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:101200 |
Hurler Syndrome |
|
Hydrocephalus, Short stature |
OMIM:607014 |
Marden-Walker Syndrome |
|
Severe short stature, Hydrocephalus, Growth delay, Intrauterine growth retardation, Failure to th... |
ORPHA:2461 |
H Syndrome |
|
Hydrocephalus, Short stature, Delayed puberty |
ORPHA:168569 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Hydrocephalus, Agenesis of corpus callosum, Short stature |
OMIM:227646 |
Jacobsen Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Failure to thrive, Holoprosencephaly |
OMIM:147791 |
Opitz-Kaveggia Syndrome |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Short stature |
OMIM:305450 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Spina bifida |
OMIM:613776 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Failure to thrive, Short stature |
OMIM:115150 |
Aymé-Gripp Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Short stature, Ventriculomegaly |
ORPHA:1272 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Short stature |
ORPHA:579 |
Hurler Syndrome |
|
Growth delay, Hydrocephalus, Short stature |
ORPHA:93473 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum, Short stature |
ORPHA:261537 |
Cardiofaciocutaneous Syndrome |
|
Hydrocephalus, Short stature, Failure to thrive in infancy |
ORPHA:1340 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
Osteopathia Striata With Cranial Sclerosis |
|
Short stature, Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta, Fail... |
OMIM:300373 |
Short-Rib Thoracic Dysplasia 12 |
|
Intrauterine growth retardation, Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Mend Syndrome |
|
Hydrocephalus, Failure to thrive, Short stature, Dandy-Walker malformation |
ORPHA:401973 |
Mend Syndrome |
|
Hydrocephalus, Failure to thrive, Short stature, Dandy-Walker malformation |
OMIM:300960 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Failure to thrive, Agenesis of corpus callosum |
ORPHA:137675 |
Smith-Lemli-Opitz Syndrome |
|
Short stature, Hydrocephalus, Partial agenesis of the corpus callosum, Growth delay, Colpocephaly... |
OMIM:270400 |
Holoprosencephaly 9 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Short stature, Holoprosencephaly |
OMIM:610829 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Hydrocephalus, Short stature |
OMIM:245600 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... |
OMIM:249000 |
Kabuki Syndrome |
|
Short stature, Hydrocephalus, Obesity, Failure to thrive, Ventriculomegaly |
ORPHA:2322 |
Marshall-Smith Syndrome |
|
Short stature, Hydrocephalus, Decreased body weight, Failure to thrive, Agenesis of corpus callos... |
OMIM:602535 |
Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
7Q11.23 Microduplication Syndrome |
|
Short stature, Hydrocephalus, Obesity, Growth delay, Ventriculomegaly |
ORPHA:96121 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Microcornea, Keratoconus |
OMIM:225400 |
Dubowitz Syndrome |
|
Short stature, Postnatal growth retardation, Hydrocephalus, Intrauterine growth retardation, Spin... |
ORPHA:235 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum, Short stature |
ORPHA:261552 |
Fanconi Anemia, Complementation Group L |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus |
OMIM:614083 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly |
ORPHA:477993 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus, Short stature, Disproportionate short-trunk short stature |
OMIM:253200 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Failure to thrive |
ORPHA:79282 |
Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube defect, Fa... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube defect, Fa... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube defect, Fa... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal brainstem morphology, Growth delay, Neural tube defect, Fa... |
ORPHA:93924 |
Raine Syndrome |
|
Hydrocephalus, Short stature |
OMIM:259775 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
Holoprosencephaly |
|
Encephalocele, Failure to thrive in infancy, Hydrocephalus, Spinal dysraphism, Holoprosencephaly,... |
ORPHA:2162 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Short stature |
OMIM:311200 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intrauterine growth retardation, Hydrocephalus, Short stature, Abdominal obesity |
OMIM:619321 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus |
OMIM:182212 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Small for gestational age, Spina bifida, Postnatal growth retardation, Hydrocephal... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Slender build, Small for gestational age, Spina bifida, Postnatal growth retardation, Hydrocephal... |
ORPHA:363958 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Postnatal growth retardation, Hydrocephalus |
ORPHA:536467 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Failure to thrive, Short stature |
OMIM:102500 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Severe short stature, Agenesis of corpus callosum |
ORPHA:2658 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Brain stem compression, Hydrocephalus |
ORPHA:637 |
Wolf-Hirschhorn Syndrome |
|
Short stature, Small for gestational age, Hydrocephalus, Growth delay, Severe postnatal growth re... |
OMIM:194190 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:163979 |
Coccidioidomycosis |
|
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr... |
ORPHA:228123 |
Trisomy 8P |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:264450 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Short stature, Postnatal growth retardation, Obesity, Intr... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Short stature, Postnatal growth retardation, Obesity, Intr... |
ORPHA:353277 |
Meckel Syndrome |
|
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation |
ORPHA:564 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Hydrocephalus, Growth delay, Delayed puberty, Ventriculomegaly |
ORPHA:2072 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Failure to thrive, Short stature, Delayed puberty |
ORPHA:955 |
Fanconi Anemia |
|
Short stature, Spina bifida, Hydrocephalus, Weight loss, Growth delay, Intrauterine growth retard... |
ORPHA:84 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus |
ORPHA:505248 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Failure to thrive, Short stature |
ORPHA:1106 |
Mucopolysaccharidosis Type 3 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:581 |
Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Overweight, Hydrocephalus, Delayed puberty, Obesity, Decreased body weight, Intrauterine growth r... |
OMIM:619475 |
Osteogenesis Imperfecta |
|
Short stature, Rhizomelia, Small for gestational age, Hydrocephalus, Noncommunicating hydrocephal... |
ORPHA:666 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Hydrocephalus, Growth delay, Failure to thrive, Agenesis of corpus callosum |
ORPHA:2556 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Spinal dysraphism, Neonatal short-limb short stature, Disproportiona... |
OMIM:114290 |
Gaucher Disease |
|
Hydrocephalus, Short stature, Ventriculomegaly, Delayed puberty |
ORPHA:355 |
22Q11.2 Deletion Syndrome |
|
Short stature, Spina bifida, Hydrocephalus, Meningocele, Obesity, Occipital myelomeningocele, Int... |
ORPHA:567 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:3042 |
Costello Syndrome |
|
Hydrocephalus, Failure to thrive, Short stature, Ventriculomegaly |
OMIM:218040 |
Meningioma |
|
Brain stem compression, Hydrocephalus, Obesity |
ORPHA:2495 |
Pseudoaminopterin Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:221120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Hydrocephalus |
ORPHA:667 |
Fetal Akinesia Deformation Sequence 1 |
|
Intrauterine growth retardation, Hydrocephalus, Small for gestational age |
OMIM:208150 |
Lymphangioleiomyomatosis |
|
Hydrocephalus |
ORPHA:538 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Delayed puberty |
ORPHA:95699 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... |
ORPHA:363700 |
Yunis-Varon Syndrome |
|
Short stature, Postnatal growth retardation, Hydrocephalus, Severe failure to thrive, Agenesis of... |
ORPHA:3472 |
Peters Plus Syndrome |
|
Short stature, Rhizomelia, Postnatal growth retardation, Hydrocephalus, Disproportionate short-li... |
ORPHA:709 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
Fontaine Progeroid Syndrome |
|
Small for gestational age, Short stature, Hydrocephalus, Intrauterine growth retardation, Failure... |
OMIM:612289 |
Wiedemann-Rautenstrauch Syndrome |
|
Short stature, Small for gestational age, Hydrocephalus, Intrauterine growth retardation, Failure... |
OMIM:264090 |
Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Hydrocephalus, Severe intrauterine growth retardation, Spina... |
OMIM:218600 |
Peters-Plus Syndrome |
|
Rhizomelia, Postnatal growth retardation, Hydrocephalus, Birth length less than 3rd percentile, D... |
OMIM:261540 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m... |
ORPHA:286 |
Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:261337 |
Oeis Complex |
|
Myelomeningocele, Hydrocephalus |
OMIM:258040 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Focal Dermal Hypoplasia |
|
Short stature, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum |
OMIM:305600 |
Genitopatellar Syndrome |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Hydrocephalus |
OMIM:219000 |
Wiedemann-Rautenstrauch Syndrome |
|
Short stature, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Severe intrauterine grow... |
ORPHA:3455 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Keratoconjunctivitis sicca |
ORPHA:285 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Alopecia of scalp |
OMIM:130050 |
Tetrasomy 9P |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
ORPHA:3310 |
Otopalatodigital Syndrome, Type Ii |
|
Postnatal growth retardation, Hydrocephalus, Short stature, Spina bifida |
OMIM:304120 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Small for gestational age, Holoprosencephaly |
OMIM:107480 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus |
OMIM:610168 |
Roberts-Sc Phocomelia Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Frontal encephalocele, Severe intrauterine growth re... |
OMIM:268300 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:312870 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum |
OMIM:164210 |
Coffin-Siris Syndrome |
|
Hepatoblastoma, Papillary thyroid carcinoma |
ORPHA:1465 |
Coffin-Siris Syndrome 3 |
|
Intrauterine growth retardation, Short stature, Dandy-Walker malformation |
OMIM:614608 |