Microcephaly 19, Primary, Autosomal Recessive |
|
Decreased body weight, Microcephaly, Hypoplasia of the corpus callosum, Extra-axial cerebrospinal... |
OMIM:617800 |
Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Cortical dysplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Simplified gyral pattern... |
OMIM:615763 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Small cerebral cortex, Microcephaly, Abnormal cerebral morphology, Ventriculomegaly, Abnormal cer... |
ORPHA:329228 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Sinusitis, Airway obstruction, Nasal polyposis, Chronic rhinitis, Abnormal respiratory motile cil... |
OMIM:242680 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Megalencephaly, Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615938 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... |
ORPHA:922 |
Porencephaly |
|
Porencephalic cyst, Ventriculomegaly |
ORPHA:2940 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... |
ORPHA:2182 |
Ciliary Dyskinesia, Primary, 9 |
|
Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis... |
OMIM:612444 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Hypoplasia... |
ORPHA:300573 |
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive |
|
Enlarged sylvian cistern, Perisylvian polymicrogyria |
OMIM:615752 |
Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Cerebral atrophy, Ventriculomegaly |
OMIM:612900 |
Ciliary Dyskinesia, Primary, 6 |
|
Sinusitis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia... |
OMIM:610852 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Chronic rhinitis, Reduce... |
OMIM:617091 |
Megalencephaly, Autosomal Dominant |
|
Megalencephaly, Hydrocephalus |
OMIM:155350 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalence... |
OMIM:615937 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec... |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 28 |
|
Dynein arm defect of respiratory motile cilia, Respiratory insufficiency due to defective ciliary... |
OMIM:615505 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Abnormal central microtubular pair morphology of respiratory motil... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 10 |
|
Chronic otitis media, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary... |
OMIM:612518 |
Vacterl Association With Hydrocephalus |
|
Anal atresia, Hydrocephalus, Stillbirth, Aqueductal stenosis |
OMIM:276950 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Par... |
OMIM:604213 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic rhinitis, Recu... |
OMIM:612649 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Diffuse swelling of cerebral white matter, Cerebral atrophy, Megalencephaly, Ventriculomegaly, Dy... |
OMIM:613925 |
Ciliary Dyskinesia, Primary, 17 |
|
Cough, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chron... |
OMIM:614679 |
Lissencephaly 4 |
|
Growth delay, Short stature, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpo... |
OMIM:614019 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Thick cerebral cortex, Lissencephaly, ... |
OMIM:618677 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Brain stem compression, Hydrocephalus, Aqueductal stenosis, Cortical dysplasia,... |
ORPHA:1136 |
Lissencephaly 1 |
|
Abnormal cerebral white matter morphology, Agyria, Lissencephaly, Ventriculomegaly, Subcortical b... |
OMIM:607432 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Pulmonary insufficiency, Chronic otitis media, Chronic rhinitis, Chroni... |
OMIM:614017 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Microcephaly, Cerebral atrophy, Ventriculomegaly |
OMIM:617051 |
Bowen-Conradi Syndrome |
|
Severe intrauterine growth retardation, Short stature, Severe postnatal growth retardation, Micro... |
ORPHA:1270 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia |
ORPHA:101071 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebral atrophy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Lissencephaly,... |
OMIM:618730 |
Ciliary Dyskinesia, Primary, 14 |
|
Otitis media, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile cili... |
OMIM:613807 |
Fanconi Anemia, Complementation Group R |
|
Anal atresia, Hydrocephalus, Microcephaly, Growth delay |
OMIM:617244 |
Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Cerebral calcification, Mic... |
ORPHA:1261 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Diffuse cerebral atrophy, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Subcortical cerebral atrophy, Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatr... |
ORPHA:2703 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Basal ganglia necrosis, Intrauterine growt... |
ORPHA:79243 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis, C... |
OMIM:618699 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system phy... |
OMIM:242670 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Short stature, Microcephaly, Ventriculomegaly, Cerebral white matter h... |
ORPHA:3207 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... |
ORPHA:500166 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Moderate Hemophilia A |
|
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... |
ORPHA:169805 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... |
ORPHA:284388 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Aqueductal stenosis, Ventriculomegaly |
OMIM:600907 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurren... |
OMIM:613193 |
Band Heterotopia |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Subcortical band heterotopia, Agenesis of corpus... |
OMIM:600348 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Cough, Wheezi... |
OMIM:613808 |
Microlissencephaly |
|
Cerebral dysmyelination, Cerebral cortical atrophy, Microcephaly, Polymicrogyria, Hypoplasia of t... |
ORPHA:1083 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Microcephaly, Cortical dysplasia, Ventriculomegaly, Abnormal corpus callosum morph... |
OMIM:618709 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Nasal polyposis, Chronic otitis media, Communicating hydrocephalus... |
OMIM:244400 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Increased CSF lactate, Microcephaly, Ventriculomegaly, Simplified gyral pattern, Pachygyria, Intr... |
OMIM:618397 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intestinal malrotation, Cerebral calcification, Intrauterine growth retardation, Aqueductal stenosis |
ORPHA:3035 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Short stature, Small cerebral cortex, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus ... |
OMIM:608716 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Microcephaly, Agenesis of corpus callosum, Aqueductal stenosis |
ORPHA:1496 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebral cortical atrophy, Short stature, Hypoplasia of the corpus callosum, Atrophy/Degeneration... |
OMIM:617862 |
16P13.2 Microdeletion Syndrome |
|
Failure to thrive, Hydrocephalus, Gastroesophageal reflux, Short stature, Dilated third ventricle... |
ORPHA:500055 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Azoospermia, Cough, Chronic rhinitis, Congenitall... |
OMIM:618300 |
Masa Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly, Short stature |
ORPHA:2466 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Micrognathia, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Agyria, Pachygyria, Ventriculomegaly |
ORPHA:1084 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Lissencephaly 3 |
|
Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Lissencephaly, Ventricul... |
OMIM:611603 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Primary microcephaly, Agenesis of corpus callosum, Ventriculomegaly, Polymicrogyria |
ORPHA:171703 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Failure to thrive, Short stature, Microcephaly, Ventriculomegaly, Simplified gyral pattern, Micro... |
OMIM:617090 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
High palate, Leukoencephalopathy, Cerebral atrophy, Dilated third ventricle, Microcephaly, Corpus... |
OMIM:619244 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Failure to thrive, Abnormal basal ganglia ... |
ORPHA:255182 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:2732 |
Ciliary Dyskinesia, Primary, 38 |
|
Conductive hearing impairment, Chronic otitis media, Cough, Chronic sinusitis, Neonatal respirato... |
OMIM:618063 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Microcephaly, Corpus callosum atrophy, Atrophy/Degeneration affecting t... |
ORPHA:77299 |
Microcephaly, Seizures, And Developmental Delay |
|
Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive microcephaly, Simp... |
OMIM:613402 |
Galloway-Mowat Syndrome |
|
Hiatus hernia, Aqueductal stenosis, Short stature, Microcephaly, Pachygyria, Intrauterine growth ... |
ORPHA:2065 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum, Rhizomelia |
OMIM:166990 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly, Polymicrogyria |
OMIM:612691 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... |
OMIM:615067 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... |
ORPHA:488627 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive microcephaly, Hypo... |
OMIM:616486 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... |
ORPHA:79326 |
Ciliary Dyskinesia, Primary, 26 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu... |
OMIM:615500 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Slc35A2-Cdg |
|
Gastroesophageal reflux, Cerebral atrophy, Short stature, Microcephaly, Cortical dysplasia, Hypop... |
ORPHA:356961 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elongated superior cerebellar peduncle, Failure to thrive, Abnormal basal ganglia morphology, Gas... |
ORPHA:397715 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hearing impairment, Hydrocephalus, Periodontitis |
ORPHA:1008 |
Developmental And Epileptic Encephalopathy 54 |
|
Microcephaly, Ventriculomegaly |
OMIM:617391 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Leukoencephalopathy, Gastroesophageal reflux, Cerebral atrophy, Short stature, Microcephaly, Hypo... |
ORPHA:178469 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:619501 |
Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency due to defective ciliary clearance, Absent outer dynein arms, Respirato... |
OMIM:614874 |
Bilateral Generalized Polymicrogyria |
|
Gastroesophageal reflux, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Lateral ... |
ORPHA:208447 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Neonatal asphyxia, Lateral ventricle dilatation |
ORPHA:306669 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:1568 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Lissencephaly, Primary microceph... |
ORPHA:284417 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the pons, Ventriculomegaly, Dysphagia, Age... |
OMIM:617669 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Large for gestational... |
ORPHA:544488 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Microcephaly, Ventriculomegaly |
OMIM:618383 |
Holoprosencephaly 14 |
|
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Cleft palate, Holoprosencephaly, Mi... |
OMIM:619895 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Severe postnatal growth retardation, Microcephaly, Dilated fourth vent... |
ORPHA:3078 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Agenesis of corpus callosum, Meckel diverticulum |
OMIM:300864 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
Masa Syndrome |
|
Hydrocephalus, Short stature, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:303350 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Conductive hearing impairment, Hydrocephalus, Anomalous pulmonary ... |
ORPHA:244 |
Cach Syndrome |
|
Abnormal pons morphology, Dysgyria, Cerebral atrophy, Microcephaly, T2 hypointense thalamus, Atro... |
ORPHA:135 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Pfeiffer Syndrome Type 2 |
|
High palate, Anal atresia, Hydrocephalus, Aqueductal stenosis, Cleft palate, Intestinal malrotation |
ORPHA:93259 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral calcification, Hydrocephalus |
ORPHA:99966 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Intrauterine growth retardation, Increased CSF lactate, Cerebral atrophy, Microcephaly, Corpus ca... |
ORPHA:565624 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... |
ORPHA:36382 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal resp... |
OMIM:615294 |
Bilateral Striopallidodentate Calcinosis |
|
Cerebral calcification, Microcephaly, Intrauterine growth retardation, Ventriculomegaly |
ORPHA:1980 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation, Microcephaly, Growth delay |
ORPHA:85290 |
Malan Overgrowth Syndrome |
|
High palate, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, H... |
ORPHA:420179 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Growth delay, Microcephaly, Ventriculomegaly, Pachygyria |
OMIM:617613 |
Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle |
OMIM:220200 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Hypoplasia of the corpus callosum, Abnormal caudate nucleus morphology, Cerebral white matter atr... |
ORPHA:2148 |
Vacterl With Hydrocephalus |
|
Anal atresia, Hydrocephalus, Intrauterine growth retardation, Aqueductal stenosis, Tracheoesophag... |
ORPHA:3412 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Cerebral hypoplasia, Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:617977 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
High palate, Failure to thrive, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum... |
OMIM:619701 |
Epilepsy, Pyridoxine-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Dural Sinus Malformation |
|
Hydrocephalus, Pulsatile tinnitus, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral h... |
ORPHA:97339 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Obesity, Dilated third ventricle, Cerebral atrophy |
OMIM:617296 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Nasal polyposis, Otitis media, Ciliary dyskinesia, Bronchiectasi... |
OMIM:606763 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Congenital Hydrocephalus |
|
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly... |
ORPHA:2185 |
Acrofacial Dysostosis, RodrĂguez Type |
|
Intrauterine growth retardation, Aqueductal stenosis, Arrhinencephaly |
ORPHA:1788 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Microcephaly, Dilated third ventricle, Abnormal periventricular white matter morphology |
OMIM:619725 |
Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu... |
OMIM:615504 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, ST segment depression, Hyperglycorrhac... |
ORPHA:90065 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum, Ventricul... |
ORPHA:85179 |
Gabriele-De Vries Syndrome |
|
Abnormal cerebral white matter morphology, Cryptorchidism, Intrauterine growth retardation, Ventr... |
OMIM:617557 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Short stature, Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, ... |
ORPHA:262767 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Hyperintensity of cerebral white matter on MRI, Cerebral dysmyelination, Ventriculomegaly, Increa... |
OMIM:611722 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:215520 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum, Hypoplasia... |
ORPHA:250972 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Cerebral calcification, Decreased response to growth hormone stimulation test, Severe short statu... |
OMIM:225755 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
High-frequency hearing impairment, Recurrent bronchitis, Chronic sinusitis, Otitis media |
OMIM:300455 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Hydrocephalus |
OMIM:129850 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Decreased response to growth hormone stimulation test, Azoospermia, Retrogna... |
ORPHA:280679 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Absent inner and outer dynein arms, Immotile cilia, Bronchiectasis |
OMIM:618801 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
High palate, Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalu... |
ORPHA:300570 |
Alexander Disease |
|
High palate, Failure to thrive, Hydrocephalus, Aqueductal stenosis, Cerebral calcification, Megal... |
ORPHA:58 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, ... |
OMIM:616037 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
High palate, Leukoencephalopathy, Cerebral atrophy, Dilated fourth ventricle, Lateral ventricle d... |
ORPHA:572798 |
Pfeiffer Syndrome Type 1 |
|
High palate, Aqueductal stenosis |
ORPHA:93258 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Skin rash |
ORPHA:26 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Ventriculomegaly |
OMIM:616540 |
Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... |
ORPHA:331 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Short stature, Microcephaly, Ventriculomegaly, Intrauterine growth retardation |
ORPHA:2515 |
Immunodeficiency 32B |
|
Bronchiectasis, Sinusitis, Pneumonia |
OMIM:226990 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Cerebral cortical atrophy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Focal T2 ... |
ORPHA:2822 |
Aneurysm, Intracranial Berry, 12 |
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Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
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Cerebral hemorrhage, Decreased response to growth hormone stimulation test, Retrognathia, Moyamoy... |
OMIM:300845 |
Spermatogenic Failure 38 |
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Coiled sperm flagella, Abnormal axonemal organization of respiratory motile cilia, Oligospermia, ... |
OMIM:618433 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
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Slender build, Frontal cortical atrophy, Ventriculomegaly, Short stature |
OMIM:300699 |
Developmental And Epileptic Encephalopathy 97 |
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Ventriculomegaly |
OMIM:619561 |
Pfeiffer Syndrome Type 3 |
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High palate, Anal atresia, Aqueductal stenosis, Cleft palate, Intestinal malrotation |
ORPHA:93260 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Hydrolethalus Syndrome 2 |
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Hydrocephalus, Cleft palate, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of ... |
OMIM:614120 |
Mehmo Syndrome |
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Decreased response to growth hormone stimulation test, Cleft palate, Small for gestational age, M... |
OMIM:300148 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
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Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Aganglionic megacolon |
OMIM:304100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Hydrocephalus, Hypoplasia of the pons, Type II lissencephaly, Ventriculomegaly, Dandy-Walker malf... |
OMIM:613154 |
Pseudo-Torch Syndrome 2 |
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Acute respiratory distress syndrome, Petechiae, Cerebral hemorrhage, Respiratory insufficiency, P... |
OMIM:617397 |
Catel-Manzke Syndrome |
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Failure to thrive, Cleft palate, Short stature, Glossoptosis, Ventriculomegaly |
ORPHA:1388 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Asthma, Sinusitis, Recurrent upper and lower respiratory tract infections, Otitis media, Atopic d... |
ORPHA:70593 |
Hsd10 Disease |
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Focal white matter lesions, Microcephaly, Ventriculomegaly, Dysphagia, Postnatal growth retardati... |
ORPHA:391417 |
Temple Syndrome |
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Hydrocephalus, Postnatal growth retardation, Decreased response to growth hormone stimulation tes... |
ORPHA:254516 |
Cleft Lip With Or Without Cleft Palate |
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Hearing impairment, Chronic sinusitis, Recurrent otitis media |
ORPHA:1991 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
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Growth delay, Abnormal lateral ventricle morphology, Intrauterine growth retardation, Hypoplasia ... |
ORPHA:488635 |
Cerebral Cavernous Malformations 2 |
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Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage |
OMIM:603284 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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High palate, Failure to thrive, Hydrocephalus, Elongated superior cerebellar peduncle, Aqueductal... |
OMIM:619512 |
Abetal34V Amyloidosis |
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Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
1Q21.1 Microduplication Syndrome |
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Failure to thrive, Hydrocephalus, Gastroesophageal reflux, Cryptorchidism |
ORPHA:250994 |
Riddle Syndrome |
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Otitis media, Intraventricular hemorrhage, Conjunctival telangiectasia, Arthritis, Recurrent sinu... |
ORPHA:420741 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Cholelithiasis, High, narrow palate, Cleft palate, Cerebral atrophy, Cavum septum pellucidum, Dil... |
ORPHA:464738 |
3-Hydroxyisobutyric Aciduria |
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Cerebral cortical atrophy, Cerebral calcification, Microcephaly, Ventriculomegaly, Intrauterine g... |
ORPHA:939 |
Ciliary Dyskinesia, Primary, 19 |
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Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Recurrent sinusiti... |
OMIM:614935 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Pachygyria, Colpocephaly |
OMIM:614870 |
Macdermot-Winter Syndrome |
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Microcephaly, Intrauterine growth retardation, Ventriculomegaly |
OMIM:247990 |
Mucus Inspissation Of Respiratory Tract |
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Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction |
OMIM:253240 |
Pettigrew Syndrome |
|
Sensorineural hearing impairment, High-frequency hearing impairment, Hydrocephalus, Ventriculomeg... |
OMIM:304340 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
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Gastroesophageal reflux, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Ventricu... |
ORPHA:1495 |
Ciliary Dyskinesia, Primary, 25 |
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Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... |
OMIM:615482 |
Neurodevelopmental Disorder With Involuntary Movements |
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Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia |
OMIM:617493 |
Ciliary Dyskinesia, Primary, 35 |
|
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis |
OMIM:617092 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
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Type II lissencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Aicardi Syndrome |
|
Hiatus hernia, Hepatoblastoma, Cleft palate, Choroid plexus cyst, Cavum septum pellucidum, Dilate... |
OMIM:304050 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Short stature, Microcephaly, Ventriculomegaly, Growth delay, Pac... |
ORPHA:2512 |
Ciliary Dyskinesia, Primary, 22 |
|
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Neonatal respirato... |
OMIM:615444 |
Cog5-Cdg |
|
High palate, Short stature, Microcephaly, Atrophy/Degeneration affecting the brainstem, Cerebral ... |
ORPHA:263487 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Cerebral calcification, Microcephaly, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
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Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:225050 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
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Ventriculomegaly |
OMIM:619323 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Spastic Paraplegia 47, Autosomal Recessive |
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High palate, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Abnormal periventric... |
OMIM:614066 |
Central Neurocytoma |
|
Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... |
ORPHA:53719 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Failure to thrive, Hydrocephalus, High, narrow palate, Short stature, Dilated third ventricle, He... |
OMIM:619575 |
Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Ventriculomegaly, Lobulated tongue, Molar tooth sign on MRI |
OMIM:617127 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
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Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Supernumerary nipple, Cavum septum pellucidum, Pyloric stenosis, Lateral ventricle d... |
ORPHA:457279 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Pulmonary insufficiency, Recurrent upper respira... |
ORPHA:277 |
Acrofacial Dysostosis 1, Nager Type |
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Hydrocephalus, Velopharyngeal insufficiency, Aqueductal stenosis, Cleft palate, Short stature, Mi... |
OMIM:154400 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal p... |
OMIM:604571 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Microcephaly, Cortical dysplasia, Ventriculomegaly |
ORPHA:319199 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Intrauterine growth retardation, Decreased body weight, Hypoplasia of the corpus callosum, Short ... |
ORPHA:255138 |
Lissencephaly 5 |
|
Leukoencephalopathy, Hydrocephalus, Hypoplasia of the corpus callosum, Type II lissencephaly, Abn... |
OMIM:615191 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Dysgyria, Type II lissencephaly, Abnormal cerebral white matter morphology, Occipi... |
ORPHA:352682 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Secondary microcephaly, Ventriculomegaly |
OMIM:617290 |
Developmental And Epileptic Encephalopathy 59 |
|
Ventriculomegaly |
OMIM:617904 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebral atrophy, Abnormality of the cerebrospinal fluid, Dilated third ventricle, Atrophy/Degene... |
ORPHA:314404 |
Achondroplasia |
|
Conductive hearing impairment, Hydrocephalus, Malar flattening, Upper airway obstruction, Recurre... |
OMIM:100800 |
Holoprosencephaly 5 |
|
High palate, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Microce... |
OMIM:609637 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Leukoencephalopathy, Focal white matter lesions, Cerebral calcification, Microcephaly, Ventriculo... |
OMIM:612951 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Failure to thrive, Microcephaly, Cerebral atrophy, Ventriculomegaly |
OMIM:616034 |
Fried Syndrome |
|
High palate, Hydrocephalus, Cerebral calcification |
ORPHA:85335 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Microcephaly, Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, ... |
OMIM:225790 |
Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Low-set ears, Hydrocephalus, Microretrognathia |
OMIM:300884 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Short stature, Hypoplasia of the corpus callosum, Pyloric stenosis, Ventriculomega... |
OMIM:218350 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Cerebral atrophy, Microcephaly, Ventriculomegaly, Thin corpus callosum |
OMIM:619851 |
Central Precocious Puberty |
|
Hydrocephalus, Hypothalamic hamartoma, Proportionate short stature, Increased body weight, Increa... |
ORPHA:759 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
High palate, Ventriculomegaly |
ORPHA:168624 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Cerebral atrophy, Polyphagia, Thin corpus callosum, Obesity |
OMIM:616521 |
Peho-Like Syndrome |
|
Polymicrogyria, Hypoplasia of the corpus callosum, Lissencephaly, Ventriculomegaly, Progressive m... |
OMIM:617507 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased CSF lactate, Cerebral atrophy, Small for gestational age, Microcephaly, Basal ganglia c... |
OMIM:312170 |
Aspergillosis |
|
Keratitis, Asthma, Sinusitis, Osteomyelitis, Stroke, Chronic pulmonary obstruction, Intracranial ... |
ORPHA:1163 |
Trisomy 5P |
|
Obesity, Ventriculomegaly, Short stature |
ORPHA:1742 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Cough |
ORPHA:163703 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Agenesis of cor... |
OMIM:619302 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
High palate, Failure to thrive, Gastroesophageal reflux, Cleft palate, Microcephaly, Hypoplasia o... |
OMIM:618603 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Temple Syndrome |
|
High palate, Intrauterine growth retardation, Hydrocephalus, Cleft palate, Small for gestational ... |
OMIM:616222 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... |
ORPHA:293725 |
Distal Monosomy 10Q |
|
High palate, Anal atresia, Failure to thrive, Cleft palate, Short stature, Cavum septum pellucidu... |
ORPHA:96148 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Dysphagia, Abnormal cerebral white matter morphology, Intrauterine growth retardation, Ventriculo... |
OMIM:618253 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Meckel diverticulum, Abnormal brainstem morphology, Ventriculomegaly, Dysphagia, A... |
ORPHA:163961 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Developmental And Epileptic Encephalopathy 70 |
|
Microcephaly, Cryptorchidism, Cerebral cortical atrophy, Ventriculomegaly |
OMIM:618298 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... |
ORPHA:136 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Simplified gyral pattern, Hydrocephalus, Microcephaly, Periventricular white matter hyperintensities |
OMIM:619470 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivitis |
OMIM:612692 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Skraban-Deardorff Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:617616 |
Frontal Encephalocele |
|
Hydrocephalus, Cerebral calcification, Encephalocele, Spina bifida, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Hydrocephalus, Periventricular leukomalacia, Small for gestational age |
OMIM:618302 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Large for gestational age, Growth delay, Ventriculomegaly, Short stature |
OMIM:616116 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Failure to thrive, Ventriculomegaly |
OMIM:618228 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Absent uvula, Ventriculomegaly |
OMIM:616531 |
Pontocerebellar Hypoplasia, Type 9 |
|
Cerebral cortical atrophy, Macroglossia, Microcephaly, Hypoplasia of the corpus callosum, Ventric... |
OMIM:615809 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Cerebral atrophy, Cerebral calcification, Ventriculomegaly, Progressive microcepha... |
OMIM:610333 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Arthritis, Pneumonia, Inflammatory abnormality of the eye, Re... |
ORPHA:229717 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Hypoplasia of the pons, Type II lissencephaly, Abnormal cerebral white matter morp... |
OMIM:613153 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:617761 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Ventriculomegaly |
OMIM:115210 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage |
ORPHA:98880 |
Circumvallate Placenta Syndrome |
|
Respiratory insufficiency, Intracranial hemorrhage |
OMIM:215550 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Ventriculomega... |
ORPHA:101070 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Short stature |
ORPHA:1532 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Polymicrogyria, Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:618291 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Leukoencephalopathy, Colitis, Failure to thrive, Corpus callosum atrophy, Infl... |
OMIM:608809 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Laryngomalacia, Hydrocephalus, Protruding ear, Recurrent otitis media, Decreased response to grow... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Laryngomalacia, Hydrocephalus, Protruding ear, Recurrent otitis media, Decreased response to grow... |
ORPHA:363958 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
Dengue Fever |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Skin rash, Hypotension, Gingival bleedin... |
ORPHA:99828 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Failure to thrive, Ventriculomegaly |
OMIM:618251 |
Biemond Syndrome Type 2 |
|
Obesity, Hydrocephalus, Delayed puberty, Short stature |
ORPHA:141333 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Aortic valve stenosis, Microretrognathia, Dilated fourth ventricle, Patent ductus ... |
OMIM:220220 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Cerebral calcification, Microcephaly, Ventriculomegaly, Intrauterine growth retard... |
ORPHA:858 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Orofaciodigital Syndrome Type 14 |
|
Cleft palate, Open operculum, Dilated third ventricle, Bifid tongue, Dilated fourth ventricle, Mi... |
ORPHA:434179 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
High palate, Microcephaly, Cerebral atrophy, Ventriculomegaly |
OMIM:617804 |
Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Decreased body weight |
ORPHA:1672 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Chroni... |
ORPHA:33110 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
Moyamoya Disease |
|
Ventriculomegaly |
ORPHA:2573 |
Spastic Paraplegia 50, Autosomal Recessive |
|
High palate, Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:612936 |
Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Chro... |
OMIM:615451 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, High, narrow palate, Short stature, Azoospermia, Obesity |
ORPHA:2183 |
3-Methylglutaconic Aciduria, Type Viii |
|
Increased CSF lactate, Cerebral atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Gro... |
OMIM:617248 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Intraventricular hemorrhage, Skin rash |
ORPHA:79284 |
Pontocerebellar Hypoplasia, Type 10 |
|
High palate, Growth delay, Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus call... |
OMIM:615803 |
Fanconi Anemia, Complementation Group W |
|
Duodenal atresia, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal p... |
OMIM:617784 |
17P13.3 Microduplication Syndrome |
|
High palate, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:217385 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Infectious encephalitis, Ventriculomegaly, Meningocele, Dandy-Walker mal... |
ORPHA:2481 |
6Q25 Microdeletion Syndrome |
|
High palate, Failure to thrive, Cleft palate, Short stature, Microcephaly, Ventriculomegaly, Agen... |
ORPHA:251056 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Hypoplasia of the brainstem, Ventriculomegaly, Short stature |
OMIM:618273 |
Pontocerebellar Hypoplasia Type 2 |
|
Hypoplasia of the brainstem, Dysplastic corpus callosum, Gastroesophageal reflux, Impaired oropha... |
ORPHA:2524 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Fragile X Syndrome |
|
Sinusitis, Protruding ear, Otitis media, Chronic otitis media, Ascending tubular aorta aneurysm, ... |
ORPHA:908 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:521390 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormal pons morphology, Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callo... |
ORPHA:370968 |
Hydrocephalus With Associated Malformations |
|
Intestinal malrotation, Hydrocephalus, Intrauterine growth retardation |
OMIM:236640 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Secondary micro... |
OMIM:615599 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, End... |
ORPHA:183 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal cerebral white matter morphology, Abnormal periventricular white matter morphology, Vent... |
OMIM:613443 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Microcephaly, Hypoplasia of the pons, Ventriculomegaly |
OMIM:613151 |
Neurofibromatosis, Type I |
|
Hydrocephalus, Aqueductal stenosis, Parathyroid adenoma, Short stature, Pheochromocytoma, Spina b... |
OMIM:162200 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebral atrophy, Microcephaly, Atrophy/Degeneration affecting the brainstem, Diffuse cerebral at... |
OMIM:614946 |
Hydranencephaly |
|
Infantile sensorineural hearing impairment, Atrophic pituitary gland, Abnormal internal carotid a... |
ORPHA:2177 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Cerebral cortical atrophy, Gastroesophageal reflux, Ventriculomegaly, Hypoplasia of the corpus ca... |
ORPHA:85277 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
High palate, Primary microcephaly, Ventriculomegaly |
ORPHA:2172 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm |
ORPHA:261102 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pneumonia... |
ORPHA:449280 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Fusion of the left and right thalami, Abnormality of the a... |
OMIM:617542 |
Charge Syndrome |
|
Gastroesophageal reflux, Aqueductal stenosis, Cleft palate, Holoprosencephaly, Abnormal soft pala... |
ORPHA:138 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:1188 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Microcephaly, Frontal encephalocele, Arrhinencephaly, Lissencephaly, Septo-optic d... |
ORPHA:1528 |
Chromosome 3Q13.31 Deletion Syndrome |
|
High palate, Alobar holoprosencephaly, High, narrow palate, Ventriculomegaly, Decreased testicula... |
OMIM:615433 |
Myopathy, Congenital, Bailey-Bloch |
|
High palate, Cleft palate, Short stature, Microcephaly, Ventriculomegaly, Cryptorchidism |
OMIM:255995 |
Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
Polymicrogyria, Bilateral Frontoparietal |
|
Perisylvian polymicrogyria, Cerebral dysmyelination, Hypoplasia of the pons, Frontal polymicrogyr... |
OMIM:606854 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Stroke, Cerebral hemorrhage |
OMIM:182410 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
High palate, Failure to thrive, Hydrocephalus, Intrauterine growth retardation, Gastroesophageal ... |
OMIM:619833 |
Hemimegalencephaly |
|
Polymicrogyria, Ventriculomegaly, Hyperintensity of cerebral white matter on MRI, Pachygyria, Hem... |
ORPHA:99802 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Temporal cortical atrophy, Caudate atrophy, Frontal cortical atrophy, Ventriculomegaly |
ORPHA:137831 |
Nasu-Hakola Disease |
|
Hydrocephalus, Cerebral cortical atrophy, Cerebral calcification, Ventriculomegaly, Functional ab... |
ORPHA:2770 |
Christianson Syndrome |
|
Cerebral cortical atrophy, Gastroesophageal reflux, Cachexia, Microcephaly, Ventriculomegaly, Dys... |
ORPHA:85278 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Cortical dysplasia, Type II lissencephaly, Ventriculomegaly, Decrease... |
OMIM:615287 |
Lissencephaly 8 |
|
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Type II lissencephaly, Agyria, V... |
OMIM:617255 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Abnormal cerebral white matter morphology, Pachygyria, Microcephaly, Ventriculomegaly |
ORPHA:370980 |
Microhydranencephaly |
|
Short stature, Microcephaly, Ventriculomegaly, Growth delay, Pachygyria, Hydranencephaly, Agenesi... |
OMIM:605013 |
Kohlschutter-Tonz Syndrome |
|
Cerebral atrophy, Ventriculomegaly |
OMIM:226750 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Microcephaly, Ventriculomegaly |
OMIM:619150 |
Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... |
ORPHA:326 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cerebral cortical atrophy, Thin corpus callosum, Hypoplasia of the pons, Ventriculomegaly, Dysphagia |
OMIM:619527 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Macrotia, Congestive heart failure |
OMIM:300886 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Overfolded helix, Hearing impairment, Patent ductus arteriosus, Low-set ears |
ORPHA:251046 |
Cornelia De Lange Syndrome 2 |
|
High palate, Gastroesophageal reflux, Short stature, Microcephaly, Ventriculomegaly, Postnatal gr... |
OMIM:300590 |
Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Failure to thrive, Cerebral atrophy, Short stature, Microcephaly, Hyp... |
OMIM:600118 |
Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... |
ORPHA:774 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... |
ORPHA:31825 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Cleft palate, Holoprosencephaly |
ORPHA:945 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Primary microcephaly, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Simplified ... |
OMIM:619180 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Large earlobe, Dysplastic corpus callosum, Cupped ear, Colpocephaly, Agenesis of corpus callosum,... |
OMIM:619955 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus, Malar flattening, Enamel hypoplasia, Mandibular prognathia, Low-set ears |
OMIM:600991 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive ... |
OMIM:615760 |
Yellow Nail Syndrome |
|
Sinusitis, Rhinitis, Cough, Bronchiectasis, Dyspnea, Pulmonary arterial hypertension, Hypoplasia ... |
ORPHA:662 |
Glanzmann Thrombasthenia 1 |
|
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... |
OMIM:273800 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Failure to thrive, Gastroesophageal reflux, Short stature, Ventriculomegaly, Growth delay |
ORPHA:251009 |
+173470 integrin, beta-3 |
|
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... |
OMIM:173470 |
Neuronal Intranuclear Inclusion Disease |
|
CSF pleocytosis, Leukoencephalopathy, Ventriculomegaly, Increased CSF protein |
OMIM:603472 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum |
ORPHA:397951 |
Microscopic Polyangiitis |
|
Sinusitis, Pancreatitis, Subcutaneous hemorrhage, Skin rash, Peritonitis, Arrhythmia, Vasculitis,... |
ORPHA:727 |
Ciliary Dyskinesia, Primary, 33 |
|
Conductive hearing impairment, Cough, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia,... |
OMIM:616726 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia, H... |
ORPHA:500180 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Cryptorchidism, Agenesis of c... |
OMIM:618577 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Failure to thrive, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the pons |
OMIM:618276 |
Juvenile Huntington Disease |
|
Abnormal cerebral white matter morphology, Weight loss, Ventriculomegaly, Neuronal loss in basal ... |
ORPHA:248111 |
Severe Hemophilia A |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... |
ORPHA:169802 |
Non-Functioning Paraganglioma |
|
Conductive hearing impairment, Hypertension associated with pheochromocytoma, Pulsatile tinnitus,... |
ORPHA:94080 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
High palate, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoplasia of the... |
OMIM:618354 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Low-set ears, Hydrocephalus, Micrognathia, Patent ductus arteriosus |
ORPHA:1516 |
Developmental And Epileptic Encephalopathy 99 |
|
Thick corpus callosum, Perisylvian polymicrogyria, Microcephaly, Atrophy/Degeneration affecting t... |
OMIM:619606 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Increased CSF lactate, Gastroesophageal reflux, Cerebral cortical atrophy, Hypoplasia of the pons... |
ORPHA:500144 |
Immunodeficiency 102 |
|
Recurrent skin infections, Recurrent upper respiratory tract infections, Recurrent sinusitis, Chr... |
OMIM:301082 |
Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Anal atresia, Duodenal atresia, Hydrocephalus, Myelomeningocele, Aqueduc... |
OMIM:306955 |
Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... |
OMIM:611884 |
Narp Syndrome |
|
Cerebral cortical atrophy, Short stature, Abnormal basal ganglia MRI signal intensity, Ventriculo... |
ORPHA:644 |
Halperin-Birk Syndrome |
|
High palate, Failure to thrive, Intrauterine growth retardation, Gastroesophageal reflux, Pseudob... |
OMIM:618651 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Enlarged pituitary gland, Intracranial hemorrhage, Panhypopituitarism, Anterior hy... |
ORPHA:91350 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Overfolded helix, Respiratory insufficiency, Arrhythmia, Dilated cardiomyopathy, Ventricul... |
OMIM:608836 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Type II lissencephaly, Ventriculomegaly, Intrauterine growth retardation, Aplasia/... |
ORPHA:272 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Increased CSF lactate, Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
X-Linked Agammaglobulinemia |
|
Sensorineural hearing impairment, Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Arth... |
ORPHA:47 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly, Megalencephaly |
OMIM:602501 |
Felty Syndrome |
|
Sinusitis, Chronic otitis media, Arthritis, Episcleritis, Recurrent pharyngitis, Recurrent pneumo... |
ORPHA:47612 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Abnormal vascular morphology, Musc... |
ORPHA:464321 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Ventriculomegaly |
OMIM:206570 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Short stature, Microcephaly, Increased body mass index, Truncal obesit... |
OMIM:300957 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Malabsorption, Aganglionic megacolon, Pachygyria, Microcephaly, Ventriculomegaly, Cryptorchidism,... |
ORPHA:452 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Microcephaly, Severe short stature, Ventriculomegaly |
ORPHA:2643 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Decreased body weight, Cleft palate, Microcephaly, Bifid uvula, Hypoplasia of the corpus callosum... |
OMIM:300958 |
Selective Igm Deficiency |
|
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Chronic sinusitis, Recurrent cutane... |
ORPHA:331235 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Cleft palate |
ORPHA:1692 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... |
OMIM:277450 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Macroglossia, Hypoplasia of th... |
OMIM:616900 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Hydrocephalus, Malar flattening, Hypoplasia of the maxilla, Ven... |
OMIM:109120 |
Williams-Beuren Region Duplication Syndrome |
|
High palate, Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature,... |
OMIM:609757 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Anteriorly placed anus |
OMIM:618624 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Macroglossia, Short stature, Cortical dysplasia, Hypoplasia of the corpus call... |
OMIM:300354 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
Erythrocytosis, Familial, 1 |
|
Exertional dyspnea, Myocardial infarction, Cerebral hemorrhage, Hypertension |
OMIM:133100 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Pyloric stenosis, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly |
OMIM:616355 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Secondary microcephaly, Ventriculomegaly |
OMIM:613730 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Meckel Syndrome, Type 4 |
|
Hydrocephalus, Cleft palate, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Mening... |
OMIM:611134 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified gyral pattern, Colpocephaly |
OMIM:615219 |
Cornelia De Lange Syndrome 5 |
|
High palate, Gastroesophageal reflux, Cleft palate, Short stature, Microcephaly, Truncal obesity,... |
OMIM:300882 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myocarditis, Pneumonia, Septic arthritis, Osteomyelitis, Peritonitis, Tachy... |
ORPHA:36234 |
Factor Xiii, A Subunit, Deficiency Of |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
OMIM:613225 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Corpus callosum atrophy, Ventriculomegaly |
OMIM:616680 |
Baraitser-Winter Syndrome 2 |
|
Short stature, Lissencephaly, Ventriculomegaly, Pachygyria, Secondary microcephaly, Agenesis of c... |
OMIM:614583 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Malar flattening, Respiratory insufficiency, Hypopl... |
ORPHA:93262 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Microcephaly, Cortical dysplasia, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:457260 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Cleft palate, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, P... |
ORPHA:66629 |
Prader-Willi Syndrome Due To Translocation |
|
High palate, Cerebral cortical atrophy, Decreased response to growth hormone stimulation test, Cl... |
ORPHA:177907 |
Rheumatic Fever |
|
Sinusitis, Respiratory insufficiency, Arrhythmia, Endocarditis, Myocarditis, Arthritis, Recurrent... |
ORPHA:3099 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume, Hydrocephalus, Macroglossia, Microcephaly, Dilated fourth ventricle, H... |
ORPHA:370959 |
Bresek Syndrome |
|
Hydrocephalus, Cleft palate, Microcephaly, Neonatal death, Decreased testicular size, Growth dela... |
ORPHA:85284 |
Developmental And Epileptic Encephalopathy 1 |
|
Dysphagia, Growth delay, Microcephaly, Ventriculomegaly |
OMIM:308350 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Ventriculomegaly, Short stature |
OMIM:611555 |
1Q44 Microdeletion Syndrome |
|
High palate, Hydrocephalus, Short stature, Intestinal malrotation, Microcephaly, Ventriculomegaly... |
ORPHA:238769 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:618381 |
Congenital Disorder Of Glycosylation, Type Ii |
|
High palate, Decreased body weight, Gastroesophageal reflux, Short stature, Microcephaly, Focal T... |
OMIM:607906 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Dysplastic corpus callosum, Short stature, Microcephaly, Hypoplasia of the cor... |
OMIM:619179 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Cerebral atrophy, High, narrow palate, Ventriculomegaly |
OMIM:617268 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Disproportionate short-limb short stature, Microcephaly, Ventriculomegaly, Cryptorchidism, Intrau... |
ORPHA:2772 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Periodontitis, Nephritis, Recurrent upper respiratory tract infections, Ventriculo... |
OMIM:217090 |
Snakebite Envenomation |
|
Stroke, Respiratory paralysis, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogen... |
ORPHA:449285 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebral hypoplasia, Microcephaly, Ventriculomegaly, Neuronal loss in the cerebral cortex, Pachyg... |
ORPHA:168486 |
Hemidystonia-Hemiatrophy Syndrome |
|
Abnormal paranasal sinus morphology, Advanced pneumatization of cranial sinuses |
ORPHA:306741 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Chro... |
OMIM:608647 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cleft palate, Short stature, Microcephaly, Ventriculomegaly, Cryptorchidism |
OMIM:615502 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebral cortical atrophy, Intrauterine growth retardation, Ventriculomegaly |
OMIM:619922 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Protruding ear, Microtia, Overfolded helix, Cupped ear, Dextrotransposi... |
OMIM:618619 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Microtia, Micrognathia, Anotia, Conotruncal defect |
OMIM:243440 |
Mucopolysaccharidosis Type 1 |
|
Sensorineural hearing impairment, Apnea, Hydrocephalus, Sinusitis, Chronic otitis media, Cough, H... |
ORPHA:579 |
Lissencephaly 6 With Microcephaly |
|
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c... |
OMIM:616212 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent otitis media, Asthma, Viral hepatitis, Skin rash, Rheumatoid arthrit... |
ORPHA:183675 |
Shashi-Pena Syndrome |
|
Ventriculomegaly |
OMIM:617190 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Hypothalamic hamartoma, Anterior hypopituitarism, Microglossia, Occi... |
OMIM:241800 |
Developmental And Epileptic Encephalopathy 65 |
|
Microcephaly, Cerebral atrophy, Ventriculomegaly |
OMIM:618008 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Pyoderma, Enterovi... |
OMIM:307200 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Cleft palate, Choroid plexus cyst, Hypopituitarism, Hypoplasia of the corpus call... |
OMIM:603671 |
Erythrocytosis, Familial, 2 |
|
Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins |
OMIM:263400 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... |
OMIM:610655 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
High palate, Failure to thrive, Increased CSF lactate, Cerebral cortical atrophy, Cerebral atroph... |
OMIM:619272 |
Nephronophthisis 18 |
|
Hydrocephalus, Tubulointerstitial nephritis |
OMIM:615862 |
Pierpont Syndrome |
|
Small for gestational age, Abnormal cortical gyration, Primary microcephaly, Ventriculomegaly, Cr... |
ORPHA:487825 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Megalencephaly, Hydrocephalus, Polymicrogyria |
ORPHA:83473 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Eczema, Atopic dermatiti... |
OMIM:243700 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Cerebral calcification, Cachexia, Microcephaly, Ventriculomegaly |
ORPHA:1933 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cleft palate, Cavum septum pellucidum, Partial agenesis of the corpus callosum, Ventriculomegaly,... |
OMIM:619074 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Panuveitis, Osteomyelitis, Cerebral hemorrhage, Optic neuritis, Anterior uveitis, Panniculitis |
OMIM:301081 |
Curry-Jones Syndrome |
|
Intestinal malrotation, Polymicrogyria, Anal stenosis, Ventriculomegaly, Megalencephaly, Hemimega... |
OMIM:601707 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Abnormal pinna morphology, Microretrognathia, Microtia, Low-set ears |
OMIM:613603 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Gastroesophageal reflux, Microcephaly, Hypoplasia of the corpus callos... |
ORPHA:485350 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Decreased body weight, Decreased response to growth hormone stim... |
OMIM:609053 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Microcephaly, Colpocephaly, Polymicrogyria |
OMIM:618731 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Respiratory insufficiency, Hearing impairment, Patent ductus ar... |
ORPHA:93274 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... |
OMIM:605714 |
Cog8-Cdg |
|
Failure to thrive, Atrophy/Degeneration affecting the brainstem, Protein-losing enteropathy, Vent... |
ORPHA:95428 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
High palate, Growth delay, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Lissencephaly, X-Linked, 2 |
|
High palate, Lissencephaly, Ventriculomegaly, Decreased testicular size, Pachygyria, Agenesis of ... |
OMIM:300215 |
Coach Syndrome 2 |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Apneic episodes in infancy |
OMIM:619111 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Lymphadenitis, Respiratory insufficiency, Hypertension |
OMIM:618886 |
49,Xxxyy Syndrome |
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Abnormality of the testis size, Eunuchoid habitus, Abnormal cerebral white matter morphology, Ven... |
ORPHA:261534 |
Caribbean Parkinsonism |
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T2 hypointense basal ganglia, Midline brain calcifications, Ventriculomegaly, Cerebral cortical a... |
ORPHA:97355 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Sinusitis, Malar flattening, Micrognathia, Pneumonia, Bronchiectasis, Low-set ears |
OMIM:242860 |
Mental Retardation, Buenos Aires Type |
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High palate, Failure to thrive, Hydrocephalus, Microcephaly, Partial agenesis of the corpus callosum |
OMIM:249630 |
Intellectual Developmental Disorder, X-Linked 30 |
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High palate, Microcephaly, Hydrocephalus, Short stature |
OMIM:300558 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Hydrocephalus, Pulmonic stenosis, Low-set, posteriorly rotated ears, Carious teeth, Macrotia, Hea... |
ORPHA:2701 |
Orofaciodigital Syndrome Xvii |
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Short stature, Decreased body weight, High, narrow palate, Ventriculomegaly |
OMIM:617926 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
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Leukoencephalopathy, Small basal ganglia, Failure to thrive, Ventriculomegaly, Cryptorchidism, Ap... |
ORPHA:88639 |
Wiskott-Aldrich Syndrome |
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Keratitis, Otitis media, Sudden cardiac death, Eczema, Hematochezia, Spontaneous hematomas, Prolo... |
ORPHA:906 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Cerebral cortical atrophy, Intrauterine growth retardation, Ventriculomegaly, Short stature |
ORPHA:48431 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
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Microcephaly, Increased CSF lactate, Ventriculomegaly, Short stature |
OMIM:619059 |
Radial Aplasia, X-Linked |
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Anal atresia, Hydrocephalus |
OMIM:312190 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
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Frontal cortical atrophy, Ventriculomegaly |
ORPHA:206559 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
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Cerebral cortical atrophy, Macroglossia, Microcephaly, Hypoplasia of the corpus callosum, Ventric... |
OMIM:613156 |
Chiari Malformation Type Ii |
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Myelomeningocele, Hydrocephalus, Dysphagia, Spina bifida, Agenesis of corpus callosum, Cervical m... |
OMIM:207950 |
Cocaine Intoxication |
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Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction... |
ORPHA:90068 |
Familial Cerebral Saccular Aneurysm |
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Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
Primary Angiitis Of The Central Nervous System |
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Stroke, Cerebral vasculitis, CSF pleocytosis, Intracranial hemorrhage, Abnormal CSF protein level... |
ORPHA:140989 |
Oxoglutarate Dehydrogenase Deficiency |
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Ventriculomegaly |
OMIM:203740 |
Melanosis, Neurocutaneous |
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Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Infantile Sialic Acid Storage Disease |
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High palate, Failure to thrive, Hydrocephalus, Cerebral atrophy |
OMIM:269920 |
Spastic Paraplegia 45, Autosomal Recessive |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Cyclic Neutropenia |
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Periodontitis, Sinusitis, Enterocolitis, Recurrent skin infections, Otitis media, Peritonitis, Ph... |
ORPHA:2686 |
Amish Lethal Microcephaly |
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Microcephaly, Lissencephaly, Ventriculomegaly, Spina bifida, Agenesis of corpus callosum, Cleft s... |
ORPHA:99742 |
Cerebral Visual Impairment |
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Intracranial hemorrhage, Ischemic stroke, Infectious encephalitis, Hydrocephalus |
ORPHA:447788 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Leukoencephalopathy, Hydrocephalus, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly... |
OMIM:615181 |
Granulomatosis With Polyangiitis |
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Keratitis, Sinusitis, Respiratory insufficiency, Retinal hemorrhage, Chronic otitis media, Cough,... |
OMIM:608710 |
Hb Bart'S Hydrops Fetalis |
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Pericarditis, Hydrocephalus, Congestive heart failure |
ORPHA:163596 |
Spondyloenchondrodysplasia |
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Dental malocclusion, Decreased response to growth hormone stimulation test, Skin rash, Raynaud ph... |
ORPHA:1855 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
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Failure to thrive, Microcephaly, Ventriculomegaly |
OMIM:619556 |
Albers-Schönberg Osteopetrosis |
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Hydrocephalus, Osteomyelitis, Mandibular osteomyelitis, Osteoarthritis, Arthritis, Carious teeth,... |
ORPHA:53 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
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Failure to thrive, Ventriculomegaly, Megalencephaly, Cerebral white matter hypoplasia, Periventri... |
ORPHA:500533 |
Congenital Disorder Of Glycosylation, Type Iil |
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Failure to thrive, Hydrocephalus, Cerebral atrophy, Microcephaly, Inflammation of the large intes... |
OMIM:614576 |
Greig Cephalopolysyndactyly Syndrome |
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Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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