| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Pineocytoma |
|
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia |
ORPHA:251912 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Intrauterine growth retardation, Ataxia, I... |
ORPHA:79243 |
| Cach Syndrome |
|
Abnormal pons morphology, Limb ataxia, Dysmetria, Truncal ataxia, T2 hypointense thalamus, Atroph... |
ORPHA:135 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Colpocephaly |
OMIM:614870 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Gait imbalance, Chronic kidney disease, Nephrotic syndrome, Dysplastic corpus callosum, Decreased... |
ORPHA:488627 |
| Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Severe postnatal growth retardation, Dilated fourth ventricle, Lateral ventricle dilatation, Vesi... |
ORPHA:3078 |
| Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Micropenis, Elevated circulating creatine kinase concentration, Anencephaly, Renal... |
OMIM:615287 |
| Slc35A2-Cdg |
|
Inability to walk, Transient nephrotic syndrome, Increased circulating thyroglobulin level, Short... |
ORPHA:356961 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly, Ataxia |
OMIM:618709 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency |
OMIM:615993 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
| Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly |
OMIM:604213 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
| Masa Syndrome |
|
Hydrocephalus, Short stature, Shuffling gait, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:303350 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elongated superior cerebellar peduncle, Renal cortical cysts, Rhizomelic leg shortening, Short st... |
ORPHA:397715 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Ventriculomegaly |
OMIM:613730 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking |
ORPHA:306669 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Scissor gait |
ORPHA:363654 |
| Distal Monosomy 10Q |
|
Ataxia, Short stature, Spina bifida occulta, Functional abnormality of the bladder, Lateral ventr... |
ORPHA:96148 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:77299 |
| Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Ventriculomegaly, Hydronephrosis, Molar tooth sign on MRI |
OMIM:617127 |
| Lissencephaly 4 |
|
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature |
OMIM:614019 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Nephronophthisis 18 |
|
Hydrocephalus, Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, T... |
OMIM:615862 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Cog5-Cdg |
|
Micropenis, Short stature, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Lateral ... |
ORPHA:263487 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Hydronephrosis, Ureteral atresia |
OMIM:183802 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Abnormal brain... |
ORPHA:300573 |
| Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Ataxia, Abnormal renal medulla morphology, Nephronophthis... |
OMIM:609583 |
| Meckel Syndrome 13 |
|
Ataxia, Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:617562 |
| Joubert Syndrome 7 |
|
Ataxia, Nephronophthisis, Renal cyst, Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia... |
OMIM:611560 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Short stature, Abnormal brainstem morphology, Ataxia |
ORPHA:1532 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Hydrocephalus, Delayed puberty, Short stature |
ORPHA:141333 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hydrocephalus |
ORPHA:250994 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait imbalance, Gait ataxia, Growth delay, Abnormal lateral ventricle morphology, Intrauterine gr... |
ORPHA:488635 |
| Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Hypoplasia of the brainstem, Ventriculomegaly, Episodic ataxia |
ORPHA:420179 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
| Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Anencephaly, Dilated fourth ventricle, Renal cyst, Occipital encephaloce... |
OMIM:614175 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration |
OMIM:266100 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Hyperglycinemia, Intrauterine growth retardation, Hyposerinemia |
ORPHA:284417 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney, Ventriculo... |
OMIM:602200 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Hydrocephalus, Anencephaly, Renal cyst, Meningocele, Encephaloce... |
OMIM:611134 |
| Joubert Syndrome 14 |
|
Ataxia, Hydrocephalus, Renal cyst, Growth delay, Encephalocele, Dandy-Walker malformation |
OMIM:614424 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Coach Syndrome 3 |
|
Ataxia, Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstit... |
OMIM:619113 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Increased CSF lactate, Tip-toe gait, Atrophy/Degeneration affecting the brain... |
ORPHA:565624 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Ventri... |
OMIM:613154 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Short stature, Nephropathy, Focal segmental glomerulosclerosis, Renal cys... |
OMIM:617056 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Dandy-Walker malformation, Renal dysplasia |
ORPHA:3032 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Elevated circulating creatine kinase concentration, Vesicoureteral re... |
OMIM:619955 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Dysmetria, Dilated fourth ventricle, Athetosis, Lateral ventricle dilatation, Difficulty ... |
ORPHA:572798 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Inability to walk, Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Latera... |
ORPHA:300570 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
| Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Hydrocephalus |
ORPHA:26 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Unilateral r... |
OMIM:609757 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Male urethral meatus stenosis, Hypospadias, Dilated third ventricle, Lateral v... |
ORPHA:464738 |
| Pettigrew Syndrome |
|
Hydrocephalus, Choreoathetosis, Gait ataxia, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
| Fried Syndrome |
|
Gait disturbance, Hydrocephalus |
ORPHA:85335 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral dysgenesis, Intrauterine growth retardation, Ureteral agenesis |
OMIM:274265 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Growth delay, Short stature |
ORPHA:208447 |
| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Penile hypospadias, Lateral ventricle dilatation, Renal cyst, A... |
ORPHA:1692 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Hydranencephaly, Hypoplasia of ... |
OMIM:236500 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Gait disturbance, Multicystic kidney dysplasia |
ORPHA:3270 |
| Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Ataxia, Nephronophthisis, Dilated fourth ventricle, Enlar... |
OMIM:610688 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Short stature, Hypospadias, Horseshoe kidney, Ventriculomegaly, Agenesis of corpus... |
OMIM:218350 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hydronephrosis |
ORPHA:251046 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Renal cyst |
OMIM:174050 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Lateral ventricle dilatation, Glandular hypospadias, Abnormal preputium morp... |
ORPHA:293725 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Growth delay |
ORPHA:85290 |
| Coach Syndrome 2 |
|
Hydrocephalus, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Molar tooth... |
OMIM:619111 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Lateral ventricle dilatation, Short stature |
ORPHA:178469 |
| Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Ataxia, Recurrent urinary tract infections, Multicystic k... |
OMIM:618161 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Renal hypoplasia/aplasia, Short stature, Abnormality of the ureter, Abnormality of... |
ORPHA:1834 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hydrocephalus |
OMIM:619470 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Gait disturbance, Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Short stature, Macroscopic hematuria, Membranoproliferative glomer... |
ORPHA:251004 |
| Achondroplasia |
|
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia, Brain stem compression |
OMIM:100800 |
| Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Renal hypoplasia, Aqueductal stenosis |
OMIM:276950 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Hypothalamic hamartoma, Micropenis, Anterior hypopituitarism, Renal dysplasia, Occ... |
OMIM:241800 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia |
ORPHA:73256 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis |
ORPHA:1046 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Inability to walk, Unilateral renal agenesis, Gait ataxia, Ventriculomegaly, Agene... |
OMIM:616362 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Urinary incontinence |
OMIM:182940 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein, Dysmetria, Ataxia |
OMIM:203450 |
| Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Akinesia, Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Agen... |
OMIM:225790 |
| Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Ataxia, Nephronophthisis, Enlarged fossa interpedunculari... |
OMIM:608629 |
| Bresek Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Hypoplasia of the bladder, Renal dysplasia, Renal... |
ORPHA:85284 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
| Joubert Syndrome 20 |
|
Renal cyst, Molar tooth sign on MRI |
OMIM:614970 |
| Joubert Syndrome 15 |
|
Ataxia, Molar tooth sign on MRI, Nephronophthisis, Micropenis |
OMIM:614464 |
| Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Occipital encephalocele |
OMIM:614209 |
| Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Hydrocephalus, Ataxia, Nephronophthisis, Thickened superi... |
OMIM:608091 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short stature, Multicystic kidney dysplasia, Renal cyst, Ventriculomegaly, Meningocele |
ORPHA:2031 |
| Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency |
ORPHA:1909 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy |
ORPHA:3033 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Inability to walk, Gait disturbance, Lateral ventricle dilatation, Abnormal substantia ni... |
ORPHA:2822 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia |
ORPHA:251915 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia o... |
OMIM:619302 |
| Joubert Syndrome 18 |
|
Intrauterine growth retardation, Horseshoe kidney, Molar tooth sign on MRI |
OMIM:614815 |
| Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Brain stem compression, Hydrocephalus, Ataxia, Aqueductal stenosis, Agenesis of... |
ORPHA:1136 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly, Stage 5 chronic kidney disease |
OMIM:612285 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| 46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... |
OMIM:154230 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... |
ORPHA:49041 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Multiple renal cysts |
ORPHA:2924 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cl... |
OMIM:617542 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Short sta... |
OMIM:609053 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Short stature, Horseshoe kidney, Ventriculomegaly, Growth delay, Vesicoureteral re... |
ORPHA:238769 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Coach Syndrome 1 |
|
Ataxia, Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal c... |
OMIM:216360 |
| Mental Retardation, Buenos Aires Type |
|
Hydrocephalus, Hypospadias, Abnormality of the urinary system, Partial agenesis of the corpus cal... |
OMIM:249630 |
| Meckel Syndrome, Type 3 |
|
Hydrocephalus, Multicystic kidney dysplasia, Occipital encephalocele, Dandy-Walker malformation |
OMIM:607361 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Abnormality of the ureter, Recurrent urinary tract infections, Hydroure... |
ORPHA:2970 |
| Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
| Methylcobalamin Deficiency Type Cble |
|
Hypoplasia of the brainstem, Hydrocephalus, Hypomethioninemia, Hyperhomocystinemia, Ventriculomeg... |
ORPHA:2169 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Ataxia, Unsteady gait |
ORPHA:457279 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hydrocephalus, Nephronophthisis, Short stature, Ventriculomegaly |
OMIM:615630 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Spastic gait, Difficulty walking, Colpocephaly |
ORPHA:401815 |
| Meckel Syndrome, Type 2 |
|
Anencephaly, Renal cyst, Meningocele, Encephalocele, Intrauterine growth retardation, Dandy-Walke... |
OMIM:603194 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hyperammonemia, ... |
ORPHA:228308 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Short stature |
ORPHA:1035 |
| Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Nephrotic syndrome, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
| 16P13.2 Microdeletion Syndrome |
|
Hydrocephalus, Micropenis, Short stature, Dilated third ventricle, Gait disturbance, Ventriculome... |
ORPHA:500055 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia, Occipital encephalocele |
OMIM:615397 |
| Verheij Syndrome |
|
Short stature, Renal agenesis, Renal cyst, Renal hypoplasia, Growth delay |
OMIM:615583 |
| Smith-Magenis Syndrome |
|
Renal hypoplasia/aplasia, Short stature, Abnormality of the ureter, Gait disturbance, Hypertrigly... |
ORPHA:819 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Short stature, Long penis, Polycystic kidney dysplasia, Ventriculomegal... |
ORPHA:1988 |
| Oxoglutaric Aciduria |
|
Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus, Short stature, Ataxia |
ORPHA:31 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Myoglobinuria, C... |
ORPHA:157 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem |
ORPHA:250972 |
| Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Hypospadias, Abnormality of the ureter, Ne... |
OMIM:180860 |
| Temple Syndrome |
|
Hydrocephalus, Short stature, Hypertriglyceridemia, Hypercholesterolemia, Intrauterine growth ret... |
OMIM:616222 |
| Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia |
ORPHA:171839 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts, Short stature |
ORPHA:1166 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal localization of kidney |
ORPHA:83473 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele, Hypoplasia of the brainstem |
ORPHA:352682 |
| Joubert Syndrome 31 |
|
Truncal ataxia, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Ventri... |
OMIM:613153 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Hydrocephalus, Renal insufficiency, Ventriculomegaly |
OMIM:219730 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Gait disturbance, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly |
ORPHA:272 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal cy... |
OMIM:619902 |
| Cockayne Syndrome Type 1 |
|
Ataxia, Increased blood urea nitrogen, Gait disturbance, Difficulty walking, Renal insufficiency,... |
ORPHA:90321 |
| Diabetic Embryopathy |
|
Hydrocephalus, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Spinal dysraphism, Hyd... |
ORPHA:1926 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Decreased response to growth hormone stimulation test, Hypospadias, Hydronephrosis... |
OMIM:220210 |
| Central Precocious Puberty |
|
Increased circulating gonadotropin level, Proportionate short stature, Hydrocephalus, Hypothalami... |
ORPHA:759 |
| Plasminogen Deficiency, Type I |
|
Nephrolithiasis, Hydrocephalus, Nephritis, Decreased level of plasminogen, Ventriculomegaly, Dand... |
OMIM:217090 |
| Arima Syndrome |
|
Occipital meningocele, Ataxia, Renal tubular atrophy, Nephronophthisis, Dilated fourth ventricle,... |
OMIM:243910 |
| Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly |
OMIM:610333 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Nephroblastoma, Ventriculomegaly |
OMIM:602501 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... |
OMIM:274150 |
| Adult Krabbe Disease |
|
Broad-based gait, Ataxia, Abnormal pons morphology, Abnormal medulla oblongata morphology, Gait d... |
ORPHA:206448 |
| L1 Syndrome |
|
Gait disturbance, Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
| Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Short stature |
ORPHA:166024 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... |
OMIM:614723 |
| Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Ataxia, Nephropathy, Gait disturbance, Renal insufficiency, Encephalocele, Molar t... |
ORPHA:220497 |
| Fanconi Anemia, Complementation Group O |
|
Renal cyst, Short stature, Hydronephrosis, Stage 5 chronic kidney disease |
OMIM:613390 |
| Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Dysplastic corpus callosum |
ORPHA:544488 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... |
OMIM:235400 |
| Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
| Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Short... |
OMIM:120330 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... |
OMIM:223900 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
| Uremic Pruritus |
|
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... |
ORPHA:94059 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Nephrolithiasis, Postnatal growth retardation, Hydroureter, Vesicoureteral reflux |
OMIM:617219 |
| Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia, Short stature |
OMIM:181180 |
| Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Short stature, Abnormality of the kidney, Ventriculomegaly, Enc... |
ORPHA:93274 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Unilateral renal agenesis, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:614576 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... |
OMIM:608836 |
| Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hydrocephalus, Anencephaly, Hepatic cysts, Renal cyst, Horseshoe kidney, ... |
OMIM:612284 |
| Trisomy 1Q |
|
Hydrocephalus, Congenital megaureter, Multicystic kidney dysplasia, Ventriculomegaly, Hydronephro... |
ORPHA:261344 |
| Joubert Syndrome 22 |
|
Intrauterine growth retardation, Renal hypoplasia, Molar tooth sign on MRI |
OMIM:615665 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Holoprosencephaly, Elevated circulating creatine kinase concentration, Gait distur... |
ORPHA:588 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short stature |
ORPHA:1516 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal cyst, Renal hypoplasia |
OMIM:228940 |
| Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Ureteral duplication, Arrhinencephaly, Renal insuffici... |
ORPHA:3027 |
| Galloway-Mowat Syndrome |
|
Nephrotic syndrome, Aqueductal stenosis, Short stature, Nephropathy, Proteinuria, Intrauterine gr... |
ORPHA:2065 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Congenital megaureter, Abnormality of the urinary system, Ureter... |
ORPHA:2437 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Short stature |
ORPHA:2522 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Inability to walk by childhood/adolescence, Hydrocephalus, Steppage gait |
ORPHA:99947 |
| Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
| Thanatophoric Dysplasia |
|
Disproportionate short-limb short stature, Hydrocephalus, Abnormality of the kidney, Ventriculome... |
ORPHA:2655 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly |
ORPHA:858 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Short stature, Renal dysplasia, Renal cyst... |
OMIM:617260 |
| Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality of the urethra, Renal dysplas... |
ORPHA:2842 |
| Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Short stature, Abnormality of the kidney, ... |
ORPHA:177907 |
| Lissencephaly 5 |
|
Hydrocephalus, Occipital encephalocele, Hypoplasia of the brainstem |
OMIM:615191 |
| Hemangioblastoma |
|
Hydrocephalus, Neurogenic bladder |
ORPHA:252054 |
| Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Short stature |
ORPHA:3409 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
| Temple Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Decreased response to growth hormone stimulation tes... |
ORPHA:254516 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus |
OMIM:304100 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Hydrocephalus, Multicystic kidney dysplasia, Intrauterine growth retardation |
ORPHA:2075 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume, Hydrocephalus, Elevated circulating creatine kinase concentration, Dil... |
ORPHA:370959 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Hyperechogenic kidneys, Polycystic kidney dysplasia, Ventricu... |
OMIM:617866 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Dandy-Walker malformation |
OMIM:220220 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Anterior hypopituitarism, Ethmoidal encephalocele, Abnormal midbrain morp... |
ORPHA:280195 |
| Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Ataxia, Nephropathy, Renal cyst, Enlarged fossa interpedu... |
OMIM:213300 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Increased CSF lactate, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Ren... |
OMIM:614922 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
| Trisomy 17P |
|
Hydrocephalus, Hypoplasia of penis, Short stature, Polycystic kidney dysplasia, Urethral stenosis... |
ORPHA:261290 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Ureteral agenesis |
OMIM:274210 |
| Arachnoiditis |
|
Urinary bladder sphincter dysfunction, Hydrocephalus |
ORPHA:137817 |
| Trisomy 13 |
|
Abnormality of the ureter, Multiple renal cysts, Hydronephrosis, Displacement of the urethral mea... |
ORPHA:3378 |
| Distal Tetrasomy 15Q |
|
Hydrocephalus, Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Horseshoe ... |
ORPHA:314588 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hydrocephalus, Micropenis, Short stature, Hypospadias, Nephroblastoma, Renal cyst, Ventriculomega... |
OMIM:257300 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Micropenis |
OMIM:300209 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Hypopl... |
OMIM:615181 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Ataxia, Abnormality of the cerebrospinal fluid, Dilated third ventricle, Atrophy/Degeneration aff... |
ORPHA:314404 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis |
OMIM:307000 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Arrhinencephaly |
ORPHA:1528 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Ataxia, Nephropathy, Renal insufficiency, Encephalocele, Molar tooth sign on MRI |
ORPHA:2318 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:2183 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbumin... |
ORPHA:255249 |
| Dextrocardia |
|
Abnormality of the ureter, Hydrocephalus, Abnormal renal morphology |
ORPHA:1666 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Short stature, Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, ... |
ORPHA:459061 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... |
OMIM:613095 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia, Short stature |
ORPHA:1770 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Ataxia, Short stature, Mucopolysacchariduria, Increased CSF protein, Ventriculomegaly |
OMIM:272200 |
| Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hydrocephalus, Gait ataxia, Intrauterine growth retardation, Ventriculomegaly |
OMIM:616355 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Hydrocephalus, Hyperbilirubinemia, Elevated circulating long chain fat... |
OMIM:614886 |
| Axial Osteomalacia |
|
Renal cyst, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Ataxia, Short stature, Colpocephaly, Ventriculomegaly, Intrauterine growth retarda... |
OMIM:619833 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Growth delay, Agenesis of cor... |
ORPHA:77298 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Ataxia, Micropenis, Hypoplasia of the pons, Choreoathetosis, Ventriculomegaly, Hyp... |
OMIM:614969 |
| 3C Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Short stature, Hypospadias, Ventriculomegaly, Hydronephrosis,... |
ORPHA:7 |
| Urofacial Syndrome 1 |
|
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
| Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb short... |
ORPHA:2839 |
| Aredyld Syndrome |
|
Abnormality of the ureter, Intrauterine growth retardation, Short stature |
ORPHA:1133 |
| Orofaciodigital Syndrome Vi |
|
Short stature, Renal agenesis, Hypothalamic hamartoma, Renal dysplasia, Molar tooth sign on MRI |
OMIM:277170 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia |
OMIM:618845 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ataxia, Ureteral stenosis, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
| Exstrophy-Epispadias Complex |
|
Bladder duplication, Hydrocephalus, Cystocele, Abnormality of the kidney, Abnormality of the uret... |
ORPHA:322 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... |
OMIM:263200 |
| Alagille Syndrome 2 |
|
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria |
OMIM:610205 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Gait disturbance, Hydrocephalus |
ORPHA:2181 |
| Marden-Walker Syndrome |
|
Hydrocephalus, Renal hypoplasia/aplasia, Severe short stature, Abnormal penis morphology, Abnorma... |
ORPHA:2461 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis, Communicating hydrocephalus, Short stature |
ORPHA:1064 |
| Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... |
ORPHA:1475 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Short stature, Hypospadias, Abnormality of the ureter, Spina bifida occulta, Meningocele, Intraut... |
ORPHA:2311 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
| Birt-Hogg-Dube Syndrome |
|
Renal cell carcinoma, Renal cyst, Renal neoplasm |
OMIM:135150 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst, Conjugated hy... |
ORPHA:79303 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Renal cyst, Nephropathy, Hematuria |
OMIM:611773 |
| Caudal Duplication |
|
Myelomeningocele, Renal hypoplasia/aplasia, Abnormal penis morphology, Ureteral duplication, Spin... |
ORPHA:1756 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Micropenis, Short stature, Hypospadias, Renal cyst, Renal insufficiency, Hyd... |
ORPHA:261494 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Spastic gait, Dilated third ventricle, Tip-toe gait |
OMIM:617296 |
| Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... |
OMIM:137920 |
| Hydrocephalus With Associated Malformations |
|
Hydrocephalus, Intrauterine growth retardation |
OMIM:236640 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine, Elevated circulating creatinine concentration, Nocturia, Increased blo... |
ORPHA:230 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Renal hypoplasia/aplasia, Intrauterine growth retardation, Aqueductal stenosis, Arrhinencephaly |
ORPHA:1788 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Renal cyst, Anencephaly |
OMIM:611561 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Decreased response to growth hormone stimulation test, Short stature, Hem... |
ORPHA:1855 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Micropenis, Unilateral renal agenesis, Hypospadias, Birth length less than 3rd percentile, Abnorm... |
ORPHA:464311 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Trisomy 20P |
|
Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Gait dis... |
ORPHA:261318 |
| Triploidy |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Meningocele, Intrauterine gro... |
ORPHA:3376 |
| Joubert Syndrome 21 |
|
Elongated superior cerebellar peduncle, Ataxia, Hyperechogenic kidneys, Renal cyst, Occipital enc... |
OMIM:615636 |
| Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Horseshoe kidney, Aqueductal stenosis, Hydronephrosis |
ORPHA:93260 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Nephrotic syndrome, Dysmetria, Dilated fourth ventricle, Hypocholesterolemia, Renal cyst,... |
O |
