Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus |
OMIM:166990 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis |
ORPHA:1496 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Cryptorchidism, Abnormal anterior horn cell morphology, N... |
OMIM:611890 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis |
ORPHA:3035 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis |
ORPHA:1788 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus |
OMIM:300886 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis |
ORPHA:93258 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Cerebellar atrophy, Spinocerebellar atrophy |
OMIM:215470 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis |
ORPHA:2065 |
Alexander Disease |
|
Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Hypertension, Hypotension |
ORPHA:58 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem |
ORPHA:352682 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of th... |
OMIM:620305 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Pheochromocytoma, Parathyroid ade... |
OMIM:162200 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis |
OMIM:251230 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:250994 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology |
ORPHA:1532 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis |
ORPHA:93260 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the pons, Elongated superior ce... |
OMIM:619512 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Lateral ventricle dilatation |
OMIM:221770 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypoplasia of the brainstem, Hydrocephalus |
OMIM:619302 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size |
ORPHA:649929 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Abnormal upper motor n... |
ORPHA:275872 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Cardiomyopathy, Hypoplasia of the brainstem, Hydrocephalus |
OMIM:613155 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Mitral regurgitation |
ORPHA:83473 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Aortic valve stenosis |
OMIM:615599 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:2590 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hypertension, Hydrocephalus |
OMIM:619111 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Lissencephaly 5 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Hydrocephalus |
OMIM:615191 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Pulmonic stenosis, Mitral stenosis |
OMIM:306955 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:154400 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hypoplasia of the brainstem, Hydrocephalus |
OMIM:618174 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Hydrocephalus, Pericarditis |
ORPHA:163596 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:608030 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Nephronophthisis 18 |
|
Hypertension, Hydrocephalus |
OMIM:615862 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft |
OMIM:617542 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:220220 |
Caudal Duplication |
|
Cryptorchidism, Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Enlarged pol... |
ORPHA:91348 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Secondary growth hormone deficiency, Hydrocephalus, Pi... |
ORPHA:91350 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Molar tooth sign... |
OMIM:611134 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:601794 |
Charge Syndrome |
|
Aqueductal stenosis, Cryptorchidism, Holoprosencephaly, Anterior hypopituitarism, Dandy-Walker ma... |
ORPHA:138 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology, Hydrocephalus |
ORPHA:99947 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:105400 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Dilated fourth ventricle, Cerebellar atrophy, Degeneratio... |
ORPHA:276244 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Dandy-Walke... |
OMIM:613153 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus |
OMIM:615181 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Cryptorchidism, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology |
ORPHA:412066 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Vaginal hydrocele |
ORPHA:2119 |
Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test |
ORPHA:254516 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis |
OMIM:617892 |
Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Bile duct proliferation, Dandy-Walker malformation |
OMIM:607361 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Olivopontocerebellar hypoplasia, Hypoplasia of... |
ORPHA:370959 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Anterior pituitary hypoplasia... |
OMIM:619534 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malfo... |
ORPHA:268810 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hydrocephalus |
OMIM:269920 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus |
OMIM:241800 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Hydrocephalus |
ORPHA:31 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Pulmonic stenosis, Aortic v... |
OMIM:220210 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom... |
OMIM:609757 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Dandy-Walker malfo... |
OMIM:225790 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arrhythmia, Ventriculomegaly |
ORPHA:60040 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:600274 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atrioventricular block... |
ORPHA:398124 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Hypoplasia of t... |
OMIM:614424 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:171839 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland |
OMIM:614402 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Mitral regurgitation, Ventriculomegaly |
OMIM:603387 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hypoplasia of the pons, Hydrocephalus, Retinal telangiectasia |
OMIM:620157 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased testicular size |
OMIM:616222 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
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 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension, Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
47,Xyy Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Abnormal brainstem morph... |
ORPHA:8 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Bresek Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased testicular size |
ORPHA:85284 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, Hydrocephalus, ST segment e... |
OMIM:261740 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Myocardial infarction, Hydrocephalu... |
ORPHA:54595 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:377 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism |
ORPHA:1237 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Hydrocephalus, Abnormality of the parathyroid gl... |
ORPHA:2969 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Tenorio Syndrome |
|
Raynaud phenomenon, Hydrocephalus, Syncope, Ventriculomegaly |
OMIM:616260 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Brainstem dysplasia, Hydrocephalus, Hypoplasia o... |
OMIM:608091 |
Japanese Encephalitis |
|
Paucity of anterior horn motor neurons, Abnormal pons morphology, Hyperintensity of MRI T2 signal... |
ORPHA:79139 |
Triploidy |
|
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:608627 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
Emanuel Syndrome |
|
Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformatio... |
OMIM:609029 |
Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Hypoplasia of the brainstem, Ventriculomegaly |
OMIM:614969 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Dandy-Walker malf... |
OMIM:617822 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly |
ORPHA:2189 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Ectopic posterior pituitary, Small pituitary gland, Decreased response t... |
OMIM:619476 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta |
ORPHA:2437 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Anterior pitu... |
ORPHA:67045 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S... |
ORPHA:97339 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hypoplasia of the brainstem, Hydrocephalus |
OMIM:615249 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis |
ORPHA:803 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Dextrocardia |
|
Abnormal EKG, Hydrocephalus, Pancreatic hypoplasia, T-wave inversion |
ORPHA:1666 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Bile duct proliferation |
OMIM:612284 |
3C Syndrome |
|
Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:7 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Hyp... |
ORPHA:3452 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation |
ORPHA:459061 |
Emanuel Syndrome |
|
Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformatio... |
ORPHA:96170 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
Tetrasomy 5P |
|
Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension, Heart murmur |
ORPHA:3309 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy |
OMIM:614298 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Hydrocephalus, Tricuspid regurgitation, Lateral ventricle dilatation |
OMIM:612863 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Telangiectasia |
OMIM:612582 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Hypoplasia of the brainstem, Holoprosenceph... |
OMIM:253800 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Encephalocele, Hydrocephalus |
ORPHA:2318 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Idiopathic Camptocormia |
|
Abnormal pons morphology, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis |
ORPHA:1320 |
Fg Syndrome Type 1 |
|
Cryptorchidism, Hydrocephalus, Small pituitary gland, Pulmonary arterial hypertension, Ventriculo... |
ORPHA:93932 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis |
OMIM:615911 |
Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Encephalocele, Hydrocephalus |
ORPHA:220497 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Trisomy 1Q |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hydrocephalus |
OMIM:614886 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke |
ORPHA:447788 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Hydrocephalus, Telangiectasia |
ORPHA:93400 |
Culler-Jones Syndrome |
|
Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism |
OMIM:615849 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus |
OMIM:601499 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
ORPHA:2836 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, High-output congestive heart failure, Hydrocephalus, Congestive heart failure, Telangi... |
ORPHA:137667 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Hydrocephalus, Pulmonary arteria... |
ORPHA:974 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Monosomy 18Q |
|
Left-to-right shunt, Bilateral cryptorchidism, Congestive heart failure, Hydrocephalus, Mitral re... |
ORPHA:1600 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Supernumerary nipple |
ORPHA:1812 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
Trisomy 17P |
|
Hydrocephalus, Aortic valve stenosis |
ORPHA:261290 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Walker-Warburg Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Ovarian neoplasm |
ORPHA:65285 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin... |
OMIM:616546 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Hydrocephalus, Supernumerary nipple |
OMIM:619951 |
Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Encephalocele, Hydrocephalus |
ORPHA:220493 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Rabin-Pappas Syndrome |
|
Hypoplasia of the pons, Hydrocephalus, Retinal telangiectasia |
OMIM:620155 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormal brainstem morphology |
ORPHA:2720 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension |
OMIM:616482 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2075 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... |
ORPHA:95494 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus |
ORPHA:2409 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypertension |
ORPHA:1555 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Crouzon Syndrome |
|
Hydrocephalus, Dysgerminoma |
OMIM:123500 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Dandy-Walker malform... |
OMIM:614643 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus, Hypertension |
OMIM:616914 |
Apert Syndrome |
|
Hypertension, Hydrocephalus, Ventriculomegaly, Ovarian neoplasm |
ORPHA:87 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus |
ORPHA:1865 |
Mirage Syndrome |
|
Intracranial hemorrhage, Cryptorchidism, Hydrocephalus, Decreased testicular size |
OMIM:617053 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
Acute Disseminated Encephalomyelitis |
|
Abnormal cerebellum morphology, Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:475 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, Hydrocephalus |
OMIM:618590 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... |
ORPHA:25 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Normal pressure hydrocephalus, Bradycardia |
OMIM:620351 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Heart block, Hydrocephalus, Cardiomyopathy, Arrhythmia, Ventriculomegaly |
ORPHA:228308 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus, Mitral stenosis |
OMIM:231005 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, H... |
OMIM:236670 |
Superficial Siderosis |
|
Cerebellar atrophy, Enlarged sylvian cistern, Atrophy of the spinal cord, Abnormal spinal cord mo... |
ORPHA:247245 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus |
ORPHA:1834 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Mucopolysaccharidosis, Type Ii |
|
Congestive heart failure, Hydrocephalus |
OMIM:309900 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Telangiectasia of the skin, Decreased response to growth hormone stimulation test |
OMIM:616007 |
Distal Triplication 15Q |
|
Hydrocele testis, Hydrocephalus, Dandy-Walker malformation |
ORPHA:314588 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... |
ORPHA:90695 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... |
ORPHA:2356 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Hydrocephalus, Cervical myelopathy, Cardiomyopathy, Mitral regurgitation... |
OMIM:253200 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:3301 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Dandy-Walker malformation, Ventriculomegaly |
OMIM:257300 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Abnormal cerebellum morphology, Amyotrophic lateral sclerosis |
ORPHA:300605 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Hydrocephalus, Arrhythmia |
ORPHA:157 |
Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Hydrocephalus, Mitral regurgitation |
OMIM:607014 |
Hypoplasminogenemia |
|
Hydrocephalus, Abnormality of the ovary, Dandy-Walker malformation |
ORPHA:722 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
Stankiewicz-Isidor Syndrome |
|
Cryptorchidism, Pineal cyst |
OMIM:617516 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Absent nipple |
OMIM:104350 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Hypoplasia of the brainstem, Ho... |
OMIM:610828 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Da... |
ORPHA:314585 |
H Syndrome |
|
Hydrocephalus, Abnormal cardiovascular system physiology, Decreased testicular size, Facial telan... |
ORPHA:168569 |
Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Hydrocephalus, Meningocele |
OMIM:130720 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hydrocephalus, Mitral regurgitati... |
ORPHA:505248 |
Holoprosencephaly |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Arrhythmia, A... |
ORPHA:2162 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Abnormal spinal cord morphology, Myelomeningocele, Hydrocephalus, An... |
ORPHA:2369 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Hydrocephalus, Spina bifida |
OMIM:613776 |
Endocrine-Cerebroosteodysplasia |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus, Portal hypertension |
ORPHA:1454 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
Hurler Syndrome |
|
Cardiomyopathy, Hydrocephalus, Hypertension, Angina pectoris |
ORPHA:93473 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Hydrocephalus, Pulmonary embolism |
ORPHA:3205 |
Mucopolysaccharidosis Type 1 |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Congestive heart failure |
ORPHA:579 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormone challenge,... |
OMIM:101800 |
Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:35107 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Thyroid hypoplasia |
ORPHA:2166 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardiomyopathy, Arrhythmia |
OMIM:309801 |
Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Abnormality of the pineal gland |
ORPHA:369950 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Posterior pituitary hypoplasia |
OMIM:613986 |
Coccidioidomycosis |
|
Pericarditis, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis, Vasospasm... |
ORPHA:228123 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Anterior pituitary agenesis |
OMIM:620303 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Hydrocephalus |
OMIM:253220 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Cardiofaciocutaneous Syndrome |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Hydrocephalus, Pulmonic stenosis |
ORPHA:1340 |
Achondroplasia |
|
Brain stem compression, Hydrocephalus |
OMIM:100800 |
Cardiofaciocutaneous Syndrome 1 |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
OMIM:115150 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Hypoplasia of the brainstem, Normal pressure hydrocephalus, Lateral ventricle dilatation |
ORPHA:300570 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Hydrocephalus |
OMIM:618162 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ovarian cyst, Hyperparathyroidism, Ventriculomegaly |
OMIM:618188 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Pineal cyst |
OMIM:618885 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cardiomyopathy |
OMIM:616084 |
Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Holoprosencephaly, Anencephaly, Hypoplastic nipples |
OMIM:269860 |
Aymé-Gripp Syndrome |
|
Pericarditis, Cryptorchidism, Hydrocephalus, Breast hypoplasia, Ventriculomegaly |
ORPHA:1272 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602398 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Aortic valve stenosis |
ORPHA:2306 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Hydrocephalus, Heart murmur, Intracranial hemorrhage |
ORPHA:163979 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
Jacobsen Syndrome |
|
Cryptorchidism, Annular pancreas, Hydrocephalus, Holoprosencephaly |
OMIM:147791 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bifida, Cryptor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bifida, Cryptor... |
ORPHA:363958 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis |
ORPHA:600 |
Pituitary Stalk Interruption Syndrome |
|
Cryptorchidism, Ectopic posterior pituitary |
ORPHA:95496 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:259720 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Premature ventricular contraction, Hyper... |
OMIM:602535 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Ovarian fibroma, Ventriculomegaly |
ORPHA:77301 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:250989 |
Meckel Syndrome |
|
Encephalocele, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Hydrocephalus, Anencephaly,... |
ORPHA:564 |
7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Ventriculomegaly |
ORPHA:96121 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:182212 |
Trisomy 8P |
|
Cryptorchidism, Hydrocephalus, Heart murmur, Aplasia/Hypoplasia of the gallbladder, Annular pancr... |
ORPHA:264450 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary arteria... |
ORPHA:79282 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Adrenal hyperplasia, Elevated circulating luteinizing hormone level, Enlarged polycystic ovaries,... |
ORPHA:95699 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Hydrocephalus, Spina bifida occulta |
ORPHA:235 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal pons morphology, Abnormal spinal cord morphology, Abnormal medulla oblongata morphology,... |
ORPHA:68 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Hydrocephalus |
ORPHA:90652 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Mitral regurgitation, Ventriculomegaly |
ORPHA:2462 |
Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:101200 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida |
OMIM:109400 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cyst, Hypertension |
OMIM:311200 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion |
ORPHA:69665 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Ventriculomegaly, Olivopontocerebellar hypoplasia |
ORPHA:457284 |
Opitz-Kaveggia Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:305450 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Hydrocephalu... |
OMIM:249000 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation |
ORPHA:401973 |
Mucopolysaccharidosis Type 3 |
|
Hydrocephalus, Reduced left ventricular ejection fraction, Atrioventricular block, Ventriculomegaly |
ORPHA:581 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:300960 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo... |
ORPHA:93924 |
Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
Stromme Syndrome |
|
Hydrocephalus |
OMIM:243605 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocephalus, Hypertension, Pheochr... |
ORPHA:805 |
Microphthalmia, Syndromic 5 |
|
Cryptorchidism, Ectopic posterior pituitary |
OMIM:610125 |
Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Enlarged ovaries, Increased pineal volume |
ORPHA:769 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus |
ORPHA:268249 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Gastrointestinal hemorrhage, Spina bifida, Cryptorchidism, Hydrocephalus, Men... |
ORPHA:567 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Heart murmur, Pineal cyst,... |
OMIM:615873 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus |
ORPHA:1780 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Annular pancreas, Hydrocephalus |
OMIM:227646 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
Raine Syndrome |
|
Hydrocephalus |
OMIM:259775 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus |
ORPHA:536467 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Brain stem compression, Hydrocephalus |
ORPHA:637 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Cryptorchidism, Agenesis of pineal gland, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:536471 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Spina bifida occulta |
OMIM:300373 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Hydrocephalus, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia,... |
ORPHA:2556 |
Kabuki Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:2322 |
Fanconi Anemia |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Hypertrophic cardiomyopathy, Abnormal testis morphol... |
ORPHA:84 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Decreased response to growth hormone stimulation test, Pulmonic stenosis, ... |
ORPHA:529962 |
Smith-Lemli-Opitz Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypertension, Colpocephaly, Holoprosencephaly, Hypertrophic cardio... |
OMIM:270400 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Mitral stenosis, Aortic valve stenosis |
ORPHA:955 |
Distal 22Q11.2 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Tricuspid regurgitation |
ORPHA:261337 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Congestive heart failure, Hydrocephalus, Heart murmur, Decreased CSF 5-meth... |
OMIM:619475 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus |
OMIM:614083 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Hydrocephalus, Pulmonary arterial hypertension, Cholelithiasis,... |
ORPHA:2072 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Hydrocephalus |
ORPHA:538 |
Oculoectodermal Syndrome |
|
Hypertrophic cardiomyopathy, Transient ischemic attack, Supernumerary nipple, Pineal cyst |
OMIM:600268 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Hydrocephalus |
OMIM:273395 |
Craniosynostosis 4 |
|
Ectopic posterior pituitary |
OMIM:600775 |
Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
Hajdu-Cheney Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:102500 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Mitral regurgitation, Aortic regurgitation |
ORPHA:309282 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephalus, Brain s... |
ORPHA:666 |
Cockayne Syndrome A |
|
Cryptorchidism, Hypertension, Normal pressure hydrocephalus, Arrhythmia, Ventriculomegaly |
OMIM:216400 |
Mosaic Trisomy 20 |
|
Cryptorchidism, Abnormal spinal cord morphology |
ORPHA:1724 |
Costello Syndrome |
|
Hydrocephalus, Pulmonic stenosis, Arrhythmia, Hypertrophic cardiomyopathy, Ventriculomegaly |
OMIM:218040 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Marden-Walker Syndrome |
|
Hydrocephalus |
ORPHA:2461 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2658 |
Fontaine Progeroid Syndrome |
|
Tricuspid regurgitation, Absent nipple, Cryptorchidism, Hydrocephalus, Hypoplastic nipples, Pulmo... |
OMIM:612289 |
Neurofibromatosis Type 1 |
|
Cryptorchidism, Hydrocephalus, Pheochromocytoma, Hypertension |
ORPHA:636 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Hydrocephalus |
ORPHA:667 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus, Hypoplasia of the ovary, Decreased testicular size |
OMIM:619321 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Raynaud phenomenon, Cryptorchidism, Hydrocephalus, Pulmonary ar... |
ORPHA:3310 |
Neutral Lipid Storage Myopathy |
|
Cardiomyopathy, Congestive heart failure, Pineal cyst |
ORPHA:98908 |
Cockayne Syndrome B |
|
Cryptorchidism, Arrhythmia, Normal pressure hydrocephalus, Hypertension |
OMIM:133540 |
Gaucher Disease |
|
Pulmonary arterial hypertension, Hydrocephalus, Ventriculomegaly |
ORPHA:355 |
Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:221120 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Hydrocephalus |
ORPHA:1106 |
Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Yunis-Varon Syndrome |
|
Cryptorchidism, Hydrocephalus, Renovascular hypertension, Hypertension, Cardiomyopathy, Pulmonary... |
ORPHA:3472 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Hydrocephalus, Hypertension, Lateral ventricle dilatation, Colpocephaly |
OMIM:210710 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Oeis Complex |
|
Cryptorchidism, Myelomeningocele, Hydrocephalus |
OMIM:258040 |
Fraser Syndrome 1 |
|
Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus |
OMIM:219000 |
Peters Plus Syndrome |
|
Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Anterior hypopituitarism, Spina bifida occulta,... |
ORPHA:709 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Epistaxis, Anterior pituitary hypoplasia, Cryptorchidism, Mild fetal... |
OMIM:619841 |
Focal Dermal Hypoplasia |
|
Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myelomeningocele, Telangiectasia, Hypoplasti... |
OMIM:305600 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:580 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Pineal cyst |
ORPHA:513456 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:457359 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Mitral regurgitation, Pulmonic stenosis |
ORPHA:363700 |
Primary Sjögren Syndrome |
|
Abnormal cerebellum morphology, Abnormal spinal cord morphology |
ORPHA:289390 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus |
ORPHA:3042 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Axillary apocrine gland hypoplasia, H... |
OMIM:181450 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus |
OMIM:208150 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Cryptorchidism, Hydrocephalus, Dilated cardiomyopathy, Lateral vent... |
OMIM:607872 |
Wiedemann-Rautenstrauch Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypoplasia of the thymus, Dandy-Walker malformation |
OMIM:264090 |
Wolf-Hirschhorn Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:194190 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Hydrocephalus, Retinal hemorrhage, Ischemic stroke, Corneal neovascularization |
OMIM:175780 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hydrocephalus, Pulmonic st... |
ORPHA:3455 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Cryptorchidism, Left ventricular noncompaction cardiomyopathy, Pineal cyst |
OMIM:300967 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary |
ORPHA:98889 |
Hydrolethalus Syndrome 1 |
|
Dandy-Walker malformation, Anencephaly, Adrenal gland dysgenesis, Severe hydrocephalus |
OMIM:236680 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Spina bifida occulta |
ORPHA:508488 |
Kabuki Syndrome 1 |
|
Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta |
OMIM:218600 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Supernumerary nipple, Cryptorchidism, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Arrhythmia |
OMIM:312870 |
Coffin-Siris Syndrome 12 |
|
Cryptorchidism, Noncommunicating hydrocephalus, Heart murmur |
OMIM:619325 |
Peters-Plus Syndrome |
|
Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Ventriculomegaly |
OMIM:261540 |
Exstrophy-Epispadias Complex |
|
Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:322 |
Otopalatodigital Syndrome, Type Ii |
|
Cryptorchidism, Hydrocephalus, Spina bifida |
OMIM:304120 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus |
OMIM:610168 |
Townes-Brocks Syndrome 1 |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
Roberts-Sc Phocomelia Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
OMIM:268300 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:164210 |