| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
| Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
| Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
| Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
| Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
| Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of ribose in urine, Incoordination, Ataxia, Increased level of ribitol in urine, ... |
OMIM:608611 |
| Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
| Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
| Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
| Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
| Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
| Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
| C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
| Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum, Hydrocephalus, Rhizomelia |
OMIM:166990 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Galloway-Mowat Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pachygyria, Ster... |
OMIM:617731 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Paraplegia, Gait disturbance, Nephropathy, Spasticity |
ORPHA:2820 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Gait disturbance |
ORPHA:275543 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
OMIM:618709 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
| Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Lissencephaly 4 |
|
Growth delay, Agenesis of corpus callosum, Colpocephaly, Short stature |
OMIM:614019 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Hypoplasia of the brainstem |
OMIM:618266 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Scissor gait |
ORPHA:363654 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
| Masa Syndrome |
|
Short stature, Hydrocephalus, Shuffling gait, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking |
ORPHA:306669 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Preeclampsia/Eclampsia 1 |
|
Seizure, Proteinuria |
OMIM:189800 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Short stature |
OMIM:619420 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Ataxia |
OMIM:615889 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem |
ORPHA:77299 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Limb ataxia, Hypoplasia of the ventral pons, Lateral ventricle di... |
OMIM:607596 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly, Truncal ataxia |
OMIM:617761 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... |
OMIM:618736 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:608709 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... |
OMIM:617575 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus |
ORPHA:73256 |
| Diaminopentanuria |
|
Ataxia, Cystinuria, Seizure, Hyperlysinuria, Spasticity |
OMIM:222350 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
| Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Gait disturbance |
ORPHA:26 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Midline brainstem cleft, Fusion of the left... |
OMIM:617542 |
| Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation, Short stature |
OMIM:618330 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:619428 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Inability to walk, Lateral ventricle dilatation |
OMIM:615716 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Gait ataxia, Growth delay, Gait imbalance, Intrauterine gr... |
ORPHA:488635 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia, Short stature, Abnormal brainstem morphology |
ORPHA:1532 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Spastic gait, Difficulty walking |
ORPHA:401815 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Abnormal brain... |
ORPHA:300573 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Cach Syndrome |
|
T2 hypointense thalamus, Truncal ataxia, Dysmetria, Limb ataxia, Growth delay, Lateral ventricle ... |
ORPHA:135 |
| Galactosemia I |
|
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine |
OMIM:230400 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Ataxia, Lateral ventricle dilatation, Molar tooth sign on MRI, ... |
OMIM:608629 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria, Bilateral tonic-clonic seizure with focal onset, Focal motor sta... |
OMIM:614652 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Abnormal CSF pyruvate family ... |
ORPHA:79243 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem |
ORPHA:250972 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Fried Syndrome |
|
Hydrocephalus, Gait disturbance |
ORPHA:85335 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Proteinuria, Simplified gyral pattern, Stage 5 chronic kidney diseas... |
OMIM:619609 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Ataxia, Inability to walk, Hydrocephalus, Hypoplasia of the brainstem |
OMIM:618174 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum |
ORPHA:1496 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, D... |
OMIM:613154 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem |
ORPHA:352682 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Broad-based gait |
OMIM:619470 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Hypoplasia of the pons, Inability to walk, Gait ataxia, Lateral ventricle dilatation, Dandy-Walke... |
OMIM:618606 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| 1Q21.1 Microduplication Syndrome |
|
Seizure, Hydrocephalus, Hypertonia, Hypospadias |
ORPHA:250994 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation, Gait disturbance |
OMIM:221770 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Ataxia, CSF p... |
OMIM:618384 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation |
ORPHA:85290 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Cednik Syndrome |
|
Seizure, Nephrotic syndrome, Proteinuria, Ataxia |
ORPHA:66631 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Ataxia, Inability to walk, Lateral ventricle dilatation, Pontocerebellar atrophy |
OMIM:617854 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
| Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Steppage gait |
OMIM:256850 |
| Free Sialic Acid Storage Disease |
|
Proteinuria, Ataxia, Abnormal pyramidal sign, Seizure, Nephrotic syndrome, Athetosis, Gait distur... |
ORPHA:834 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Short stature, Delayed puberty |
ORPHA:141333 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
| Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... |
OMIM:607426 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Dandy-Walker malformation, Vent... |
OMIM:304340 |
| Malan Overgrowth Syndrome |
|
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem |
ORPHA:420179 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hypoplasia o... |
OMIM:619302 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Umbilical hernia, Hypoplasia of the brain... |
OMIM:617751 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Acquired Partial Lipodystrophy |
|
Seizure, Microscopic hematuria, Proteinuria, Glomerulopathy |
ORPHA:79087 |
| Developmental And Epileptic Encephalopathy 36 |
|
Infantile spasms, Tonic seizure, Hydrocephalus, Abnormal pyramidal sign, Myoclonic seizure, Seizu... |
OMIM:300884 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Tremor, Nephrotic syndrome, Hypertonia, Gait disturbance, Photosensitive myoclonic s... |
ORPHA:1192 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Tip-toe gait, Dilated thir... |
OMIM:617296 |
| Imerslund-Grasbeck Syndrome 1 |
|
Somatic sensory dysfunction, Microscopic hematuria, Proteinuria, Paresthesia |
OMIM:261100 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
| Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
| Alexander Disease |
|
Hydrocephalus, Ataxia, Increased CSF protein concentration, Dysmetria |
OMIM:203450 |
| Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Increased CSF lactate, Choreoathetosi... |
OMIM:616034 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation |
ORPHA:284417 |
| Bilateral Generalized Polymicrogyria |
|
Growth delay, Lateral ventricle dilatation, Short stature |
ORPHA:208447 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Severe postnatal growth retardation, Lateral ventricle dilatation, Dand... |
ORPHA:3078 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Gait disturbance, Gait imbalance, Diffi... |
ORPHA:488627 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Ataxia |
ORPHA:225 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617127 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation |
ORPHA:3035 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:304100 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,... |
OMIM:618291 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Increased CSF lactate, Lateral ventricle dilatation, Tip-toe gait, Atrophy/Degeneration affecting... |
ORPHA:565624 |
| Glutaric Acidemia I |
|
Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
| Glutamine Deficiency, Congenital |
|
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation |
OMIM:610015 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Intrauterine growth retard... |
OMIM:225790 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
| Oxoglutaric Aciduria |
|
Hydrocephalus, Short stature, Ataxia |
ORPHA:31 |
| Slc35A2-Cdg |
|
Short stature, Abnormal midbrain morphology, Inability to walk, Lateral ventricle dilatation, Atr... |
ORPHA:356961 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Unsteady gait, Subependymal cysts, Seizure, Aminoaciduria, Albuminuria, Loss of ambu... |
OMIM:214100 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ataxia, Dysmetria, Athetosis, Lateral ventricle dilatation, Hypoplasia ... |
ORPHA:572798 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Intrauterine growth retardation |
ORPHA:1788 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:612285 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Seizure, Acute kidney injury |
ORPHA:54057 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
| Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Simplified gyral patter... |
OMIM:617729 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Intrauterine gro... |
OMIM:611134 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:375 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
| Aicardi-Goutieres Syndrome 4 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Gait disturbance, Ventriculomegaly |
ORPHA:272 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Increased ... |
ORPHA:436271 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Short stature |
OMIM:619995 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-linked sialope... |
OMIM:256550 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Postnatal growth retardation, Inability to walk, Partial agenesis of the corpus c... |
ORPHA:300570 |
| Alexander Disease Type I |
|
Hydrocephalus, Ataxia, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem |
OMIM:615191 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617622 |
| Nephronophthisis 18 |
|
Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe... |
OMIM:615862 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Ataxia, Hypoplasia of the brainstem, ... |
OMIM:610688 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hydrocephalus, Gait disturbance |
ORPHA:2181 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:2183 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature, Ataxia |
ORPHA:1861 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Inability to walk, Hydrocephalus, Hypoplasia of the brainstem |
OMIM:613155 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Seizure, Renal insufficiency, Ataxia, Exercise-induced myoglobinuria |
OMIM:300653 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Ketonuria, Bilateral tonic-clonic seizure, Ataxia, Abnormality of the upper urinary trac... |
ORPHA:99885 |
| Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation, Short stature |
ORPHA:2065 |
| Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus call... |
OMIM:619895 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Short stature, Rhizomelic leg shortening, Meningocele,... |
ORPHA:397715 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Ataxia |
OMIM:619725 |
| Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma |
ORPHA:649929 |
| Cog5-Cdg |
|
Short stature, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Trunca... |
ORPHA:263487 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly |
ORPHA:588 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine growth retardation, Agene... |
OMIM:612863 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
| Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... |
ORPHA:650 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:619487 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney |
ORPHA:275555 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Ataxia, Inability to walk, Lateral ventricle dilatation, Ga... |
ORPHA:2822 |
| Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... |
ORPHA:85443 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Inability to walk, Stage 5 chronic kidney disease, Bilateral re... |
OMIM:166300 |
| Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus ca... |
OMIM:207950 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia |
OMIM:220220 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Tip-toe gait, Falls, Difficulty walking, Myoglobinuria |
ORPHA:98895 |
| Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Seizure, Aminoaciduria, Proteinuria, Ataxia |
OMIM:603585 |
| Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... |
OMIM:232200 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis |
ORPHA:93258 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Seizure, Vesicour... |
ORPHA:261222 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Umbilical hernia, Lateral ventricle dilatation |
OMIM:618914 |
| Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d... |
ORPHA:90291 |
| Temple Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Short stature, Decreased response to growth hormone ... |
ORPHA:254516 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
| Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
ORPHA:1830 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Increased CSF lactate, Renal tubular dysf... |
OMIM:220110 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Ataxia |
OMIM:617562 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Dandy-Walker malformation, Ag... |
OMIM:613153 |
| Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
| Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Short stature |
ORPHA:166024 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Short stature |
OMIM:619847 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Proteinuria |
ORPHA:247691 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology, Ethmoidal encepha... |
ORPHA:280195 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis |
OMIM:616239 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Hydrocephalus, Short stature |
ORPHA:1516 |
| Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... |
OMIM:242900 |
| Distal Deletion 10Q |
|
Short stature, Ataxia, Postnatal growth retardation, Unsteady gait, Lateral ventricle dilatation,... |
ORPHA:96148 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr... |
OMIM:617303 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Hogue-Janssen Syndrome 2 |
|
Unilateral renal agenesis, Inability to walk, Hydrocephalus, Gait ataxia, Seizure, Ventriculomegaly |
OMIM:616362 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Inability to walk, Ataxia, Ventriculomegaly |
OMIM:617563 |
| Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Unilateral renal agenesis, Hydrocephalus, Seizure, Gait disturbance, Hydronephros... |
OMIM:609757 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
| Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Myoglobinuria, Difficulty walking, Broad-based gait |
ORPHA:119 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem |
OMIM:615181 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Ddost-Cdg |
|
Tremor, Seizure, Oromotor apraxia, Nephrotic range proteinuria |
ORPHA:300536 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Postnatal growth retardation, Aqueductal stenosis, Hydrocephalus, Pa... |
OMIM:620305 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Lissencephaly, Glycosuria, ... |
OMIM:613404 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ventriculomegaly, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seiz... |
ORPHA:395 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... |
OMIM:232220 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Spastic tetraparesis, Hydrocephalus, Renal hypoplasia, Seizure, Hype... |
ORPHA:171839 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Hydrocephalus, Seizure, Tubular luminal dilatation, Renal corticomedullary c... |
OMIM:219730 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Hydrocephalus, Gait disturbance, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
| Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... |
OMIM:614376 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Small pituitary gland, Disproportionate short-limb short stature, M... |
OMIM:619479 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Increased CSF protein concentration, Paralysis |
OMIM:612300 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation |
OMIM:251230 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Short stature, Postnatal growth retardation, Lateral ventricle dilatation, Intrauteri... |
OMIM:611209 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Akinesia, Spastic tetraplegia, Decreased CSF biopterin level, Seizure, Hyper... |
OMIM:619147 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hydronephrosis |
ORPHA:251046 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
| Craniofacial Dyssynostosis With Short Stature |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:218350 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| Actinic Prurigo |
|
Glomerulonephritis |
OMIM:174770 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Seizure, Myoclonus, Ma... |
ORPHA:251004 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Short stature, Lateral ventricle dilatation |
OMIM:619575 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Ataxia, Inability to walk, Lateral ventricle dilatation, Intrauterine growth retardation, Ventric... |
OMIM:619229 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer... |
OMIM:232240 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Unsteady gait, Ataxia |
ORPHA:457279 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:109120 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Short stature, Hydrocephalus, Hypothalamic hamartoma, Anterior hypopitui... |
OMIM:241800 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Intrauterine growth retardation, Lateral ventricle dilatation, Tip-toe gait |
OMIM:617557 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Molar tooth sign on MRI, Dandy-Wa... |
OMIM:614175 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Olivopontocerebellar hypoplasia, Hypoplasia of... |
ORPHA:370959 |
| Alexander Disease |
|
Ataxia, Aqueductal stenosis, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum |
ORPHA:58 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Ataxia, Exencephaly |
OMIM:614464 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Ataxia, Abnormal cerebrospinal fluid morphology, Atrophy/Degeneration af... |
ORPHA:314404 |
| Tyrosinemia, Type I |
|
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid... |
OMIM:276700 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Glutaric ... |
ORPHA:25 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Tremor, Hydrocepha... |
OMIM:277400 |
| Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria |
OMIM:602199 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Lateral ventricle dilatation, Difficulty walking, Dilated third ventricle, Age... |
ORPHA:464738 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Myoglobinuria, Renal insufficiency, Ataxia |
ORPHA:713 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:544488 |
| Joubert Syndrome 14 |
|
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Growth delay, Hypoplasia of the brainstem, Mol... |
OMIM:614424 |
| Infantile Sialic Acid Storage Disease |
|
Seizure, Hydrocephalus, Nephrotic syndrome |
OMIM:269920 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Gait disturbance |
ORPHA:2774 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Aicardi Syndrome |
|
Spina bifida, Postnatal growth retardation, Partial agenesis of the corpus callosum, Choroid plex... |
OMIM:304050 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus |
OMIM:300863 |
| Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Cerebral palsy, Proteinuria, Ataxia, Hemiplegia/hemiparesis,... |
ORPHA:36412 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hydrocephalus, Spastic paraplegia, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hy... |
OMIM:614969 |
| Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:616781 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
| Noonan Syndrome 14 |
|
Lateral ventricle dilatation, Short stature |
OMIM:619745 |
| Halperin-Birk Syndrome |
|
Inability to walk, Colpocephaly, Umbilical hernia, Intrauterine growth retardation, Agenesis of c... |
OMIM:618651 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria |
ORPHA:100024 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Abnormal pyramidal sign, Renal tubular dysfunction, Aminoacidur... |
ORPHA:213 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney |
ORPHA:369 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Loss of ambulation, Exercise-induced myoglobinuria |
ORPHA:352479 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Ataxia, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculome... |
OMIM:619833 |
| Bresek Syndrome |
|
Hypoplasia of the bladder, Hydrocephalus, Vesicoureteral reflux, Renal hypoplasia, Neonatal death... |
ORPHA:85284 |
| Bainbridge-Ropers Syndrome |
|
Growth delay, Intrauterine growth retardation, Lateral ventricle dilatation, Inability to walk |
OMIM:615485 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
| Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction, Paresthesia |
ORPHA:137817 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Donnai-Barrow Syndrome |
|
Seizure, Proteinuria |
ORPHA:2143 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Ocu... |
ORPHA:220497 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... |
ORPHA:1908 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Bilateral tonic-clonic seizure, Recurrent myoglobinuria, Seizure, Neonatal death, Myoglobinuria |
OMIM:620300 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Disproportionate short-trunk short stature, Gait disturbance |
OMIM:613330 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... |
ORPHA:157 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis |
ORPHA:93260 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Chronic kidney disease, Nephronophthisis, Oculomotor apraxia, Ventriculomegaly |
OMIM:615630 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Thickened superior cereb... |
OMIM:609583 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Urinary mulberry cells, Seizure, Paresthesia, Fasciculations, L... |
OMIM:301500 |
| Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... |
ORPHA:368 |
| Joubert Syndrome 7 |
|
Encephalocele, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI |
OMIM:611560 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Spastic diplegia, Choreoathetosis, Spasticity |
ORPHA:2715 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria, Dandy-Walker malformation |
OMIM:616901 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Hematuria, Seizure, Hemiparesis, Apraxia |
OMIM:192315 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Hypoplasia of the pons, Hypoplasia of the brainstem, Intrauterine growt... |
OMIM:615574 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Difficulty walking, Occipit... |
ORPHA:268810 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Tremor, Seizure, Renal Fanconi syndrome, Glycosuria |
ORPHA:263455 |
| Multiple Sulfatase Deficiency |
|
Ataxia, Short stature, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Joubert Syndrome 10 |
|
Growth delay, Molar tooth sign on MRI |
OMIM:300804 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Hydrocephalus, Red-brown urine, Renal tubular epithel... |
ORPHA:228308 |
| Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Intrauterine growth retardation, Occipital encephalocele, Agenesis of co... |
OMIM:614815 |
| Pseudo-Torch Syndrome 3 |
|
Seizure, Acute kidney injury, Proteinuria |
OMIM:618886 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos... |
OMIM:619512 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Brainstem dysplasia, Hydrocephalus, Hypo... |
OMIM:608091 |
| Krabbe Disease |
|
Hydrocephalus, Seizure, Hypertonia, Decerebrate rigidity, Progressive spasticity, Increased CSF p... |
OMIM:245200 |
| Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Hydrocephalus, Hypoplasia of the brainstem, Intrauterine growth ret... |
ORPHA:2169 |
| Thanatophoric Dysplasia |
|
Intrauterine growth retardation, Hydrocephalus, Disproportionate short-limb short stature, Ventri... |
ORPHA:2655 |
| Melas |
|
Abnormal central motor function, Bilateral tonic-clonic seizure, Proteinuria, Ataxia, Focal-onset... |
ORPHA:550 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Short stature |
ORPHA:2701 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Cryoglobulinemic Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:91138 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Inability to walk |
OMIM:614970 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia,... |
OMIM:616878 |
| Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Generalized-onset seizure, Proteinuria, Ataxia, Tremor, Renal cyst, Dys... |
OMIM:212065 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus |
ORPHA:163966 |
| 1Q44 Microdeletion Syndrome |
|
Short stature, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
| Weaver Syndrome |
|
Umbilical hernia, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:277590 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures |
OMIM:231530 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Ataxia, Hydrocephalus, Gait disturbance, Molar tooth sign on MRI, Agenesis of corp... |
ORPHA:220493 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Ataxia, Short stature, Abnormal brainstem morphology |
ORPHA:2720 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro... |
ORPHA:91348 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... |
ORPHA:85450 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Ataxia, Gait ataxia |
OMIM:617120 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys |
OMIM:613845 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Seizure, Myoglobinuria, Red-brown urine, Dandy-Walker malformation |
ORPHA:228305 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Seizure, Nephrotic syndrome, Abnormality... |
ORPHA:93552 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Short stature, Short umbilical cord |
OMIM:618367 |
| Tenorio Syndrome |
|
Cerebral palsy, Hydrocephalus, Clumsiness, Seizure, Enuresis, Gait disturbance, Ventriculomegaly |
OMIM:616260 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Adult Krabbe Disease |
|
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Ab... |
ORPHA:206448 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Ataxia, Nephrocalcinosis, Seizure, Aminoaciduria |
OMIM:616084 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Myoglobinuria |
OMIM:145600 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Ataxia, Hydrocephalus, Seizure, Nephropathy |
ORPHA:2318 |
| Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:1692 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Hydrocephalus, Ataxia, Ventriculomegaly |
ORPHA:59315 |
| Tetrasomy 15Q26 |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| Ohdo Syndrome |
|
Seizure, Proteinuria |
OMIM:249620 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria |
ORPHA:330001 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Short stature, Ataxia |
ORPHA:381 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Proteinuria, Chorea, Chronic kidney disease, Hematuria, Se... |
ORPHA:1855 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Opisthotonus, Mild proteinuria, Generalized tonic seizure |
OMIM:619685 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617767 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Exercise-induced myoglobinuria, Tip-toe gait, Difficulty walking, Frequent falls |
OMIM:607155 |
| Prader-Willi Syndrome Due To Translocation |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177907 |
| Temple Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Short stature |
OMIM:616222 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
| Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus |
OMIM:617244 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
| Arima Syndrome |
|
Dilated fourth ventricle, Proteinuria, Polyuria, Ataxia, Stage 5 chronic kidney disease, Hematuri... |
OMIM:243910 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
| Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Decreased response to growth hormone stimulation ... |
OMIM:220210 |
| Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... |
ORPHA:18 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Inability to walk, Parapar... |
ORPHA:2356 |
| Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury |
ORPHA:57 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Tremor, Microscopic hematuria, Abnormal renal physiology |
OMIM:274150 |
| Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu... |
ORPHA:358 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Ataxia, Tremor, Hydro... |
ORPHA:1454 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Proportionate short stature, Postna... |
ORPHA:54595 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Ketonuria, Spasticity, 3-Methylglutaconic aciduria, Difficulty walking, Myoglobinuria |
OMIM:251900 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal... |
OMIM:620113 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Hydrocephalus, Seizure, Proximal tubulopathy, Hyperechogenic kidneys, ... |
OMIM:614576 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
| Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Hydrocephalus, Spinal dysraphism, Micropenis, Hyd... |
ORPHA:1926 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Colpocephaly, Intrauterine ... |
OMIM:609053 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir... |
ORPHA:91350 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Short stature, Abnormal midbrain morphology, Abnormal pituitary gland morphology, ... |
ORPHA:314621 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Short stature |
OMIM:619869 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Short stature |
ORPHA:53 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus, Ataxia |
ORPHA:65285 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Ventriculomegaly, Bilateral tonic-clonic seizure, Facial-lingual fa... |
OMIM:617281 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Short stature |
OMIM:154400 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Hydrocephalus, Difficulty walking, Dandy-Walker malformation, Agenesis of corpus callosum... |
OMIM:618476 |
| Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Poor motor coordination, Tremor, Hypoesthesia, Rigidity, Nephroli... |
OMIM:277900 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
| Emanuel Syndrome |
|
Recurrent urinary tract infections, Torticollis, Ventriculomegaly, Unilateral renal agenesis, Hyd... |
OMIM:609029 |
| Pelvis-Shoulder Dysplasia |
|
Waddling gait, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, ... |
ORPHA:2839 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Urethral atresia, Neonatal death, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the brainstem |
OMIM:615249 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Short stature, Ataxia, Postnatal growth retardation, Decreased thala... |
ORPHA:168577 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Hydrocephalus, Seizure, Tubulointerstitial nephritis, Enuresis, Dandy-... |
ORPHA:459061 |
| Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
OMIM:616294 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
| Cocaine Intoxication |
|
Bilateral tonic-clonic seizure, Proteinuria, Glomerulonephritis, Involuntary movements, Tremor, F... |
ORPHA:90068 |
| Pure Mitochondrial Myopathy |
|
Loss of ambulation, Frequent falls, Recurrent myoglobinuria, Waddling gait |
ORPHA:254854 |
| Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Renal insufficiency, Proteinuria, Ataxia, Tremor, Seizure, Gait disturbanc... |
ORPHA:90321 |
| Legionnaires Disease |
|
Hematuria, Renal insufficiency, Proteinuria, Ataxia |
ORPHA:549 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin... |
OMIM:616546 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
| Triploidy |
|
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1064 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hypoplasia of the pons, Hydrocephalus |
OMIM:620157 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Intrauterine growth retardation, Hydrocephalus, Umbilical hernia, Dandy-Walker malformation |
OMIM:612938 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... |
ORPHA:33001 |
| Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Abnormality of the urinary syst... |
ORPHA:2437 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Hematuria, Nephrotic syndrome |
OMIM:161200 |
| Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Ataxia, Brainstem dysplasia, Occipital myelomeningocele, Hypopl... |
OMIM:213300 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Acroparesthesia, Proteinuria, Abnormality of the kidney, Impaired temperatur... |
ORPHA:2614 |
| Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Chorea, Hematuria, Seizure |
ORPHA:536 |
| Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Ataxia, Gait disturbance |
ORPHA:475 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:619113 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Charge Syndrome |
|
Short stature, Postnatal growth retardation, Aqueductal stenosis, Holoprosencephaly, Delayed pube... |
ORPHA:138 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Hypertonia, Polycystic kid... |
ORPHA:261290 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Short stature |
OMIM:602361 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Poor coordination, Proteinuria, Ventriculomegaly |
OMIM:610965 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Fanconi Anemia, Complementation Group B |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
| Multiple Sulfatase Deficiency |
|
Seizure, Hydrocephalus, Mucopolysacchariduria |
ORPHA:585 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Pineal cyst, Lateral ventri... |
OMIM:615873 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Ventriculomegaly, Bilateral tonic-clonic seizure, Hypospadias, Neph... |
OMIM:257300 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Hydrocephalus, Nephrotic synd... |
ORPHA:505248 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617757 |
| Hydrolethalus |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2189 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza... |
ORPHA:1834 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Hydrocephalus, Seizure, Oculomotor apraxia, Micropenis, Dandy-Walker malformation |
OMIM:617822 |
| Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Seizure, Pelvic kidney, Hydronephrosis, Dandy-Walker malformation |
OMIM:613001 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Gait disturbance, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hemiplegia/hemiparesis, Hematuria, Tubulointers... |
ORPHA:183 |
| Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Myelomeningocele |
OMIM:306955 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation |
OMIM:263520 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of c... |
OMIM:617260 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Seizure, Proteinuria |
OMIM:222448 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus |
OMIM:224400 |
| Congenital Sialidosis Type 2 |
|
Ataxia, Abnormality of the kidney, Hydrocephalus, Dysmetria, Seizure, Myoclonus, Spasticity |
ORPHA:93400 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Hyperechogenic kidneys, Ventricu... |
OMIM:617866 |
| Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Bilateral tonic-clonic seizure, Exercise-induced myoglobinuria |
OMIM:201475 |
| Icf Syndrome |
|
Communicating hydrocephalus, Umbilical hernia, Short stature |
ORPHA:2268 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Seizure, Hydrocephalus |
OMIM:614886 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| 47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:8 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hydrocephalus, Disproportionate short stature, Partial agenesis of the corpus callosum, Severe po... |
OMIM:210710 |
| Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Intrauterine growth retardation |
OMIM:615665 |
| Medulloblastoma |
|
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit... |
ORPHA:616 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Frequent falls, Difficulty walking |
OMIM:255125 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Infantile spasms, Noncommunicating hydrocephalus, Clumsiness, Seizure |
OMIM:619320 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Abnormal pons morphology, Lateral ventricle dilatation |
OMIM:300868 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly |
ORPHA:1860 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Hypo... |
ORPHA:444072 |
| Glycogen Storage Disease Vii |
|
Hematuria, Exercise-induced myoglobinuria |
OMIM:232800 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Hydrocephalus, Spina bifida occulta, Short stature, Myelomeningocele |
OMIM:613686 |
| Mucopolysaccharidosis, Type Ii |
|
Heparan sulfate excretion in urine, Hydrocephalus, Dermatan sulfate excretion in urine, Seizure, ... |
OMIM:309900 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
| Renal Nutcracker Syndrome |
|
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Hypoplasia of the brainstem, Dilated fourth ventricle, Mola... |
OMIM:619306 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63259 |
| 3C Syndrome |
|
Short stature, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation, Ventriculo... |
ORPHA:7 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... |
ORPHA:95455 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the... |
OMIM:612284 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
ORPHA:2836 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventricul... |
OMIM:613150 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia |
OMIM:618161 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Hydrocephalus, Congenital megaureter, Hydronephrosis, Ventriculomegaly |
ORPHA:261344 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... |
ORPHA:2035 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria |
OMIM:619127 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg... |
OMIM:615287 |
| Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Hydrocephalus |
ORPHA:2075 |
| Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation, Short stature |
OMIM:181270 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the brainste... |
OMIM:614643 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele, Ataxia |
OMIM:612291 |
| Kabuki Syndrome 1 |
|
Short stature, Postnatal growth retardation, Hydrocephalus, Growth delay, Lateral ventricle dilat... |
OMIM:147920 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb short stature |
OMIM:187600 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Urinary incontinence, Hydrocephalus, Seizure, Focal impaired awareness seizure, Neonatal death |
OMIM:616482 |
| Emanuel Syndrome |
|
Ventriculomegaly, Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Seizure, Micropenis... |
ORPHA:96170 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pelvis, Horseshoe kidney, Polyc... |
ORPHA:314588 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Hydrocephalus, Agenesis of corpus callosum |
OMIM:612940 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Short stature, Ataxia |
ORPHA:220295 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, CSF pleocytosis, CSF lymphocy... |
ORPHA:79139 |
| Dural Sinus Malformation |
|
Somatic sensory dysfunction, Ataxia, Parkinsonism, Myelopathy, Hydrocephalus, Poor coordination, ... |
ORPHA:97339 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Stillbirth, Bil... |
OMIM:617667 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract |
OMIM:600145 |
| Gaucher Disease Type 3 |
|
Proteinuria, Ataxia, Hematuria, Gait disturbance, Generalized myoclonic seizure |
ORPHA:77261 |
| Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hemiplegia/hemiparesis, Hematuria, Seizure |
ORPHA:761 |
| Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease, Ataxia |
ORPHA:85448 |
| Lowry-Maclean Syndrome |
|
Hemiparesis, Seizure, Hydrocephalus, Hypospadias |
ORPHA:2409 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Vesicoureteral reflux, Micropenis, Hydrocephalus, Unilateral renal agenesis |
OMIM:619951 |
| Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Umbilical hernia, Hydrocephalus |
OMIM:601499 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Intrauterine growth retardation, Lateral ventricle dilatation |
OMIM:300896 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Hydrocephalus, Paraplegia, Seizure, Microphallus |
OMIM:617053 |
| Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Short stature, Decreased response to growth hormone stimulation test... |
OMIM:619476 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Short stature, Hydrocephalus, Small pituitary gland, Umbilical hernia, Ventricu... |
ORPHA:93932 |
| Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain, Short stature, Ventriculomegaly |
OMIM:616202 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hydrocephalus, Seizure, Dandy-Walker malformation |
ORPHA:899 |
| Achondroplasia |
|
Hydrocephalus, Disproportionate short stature, Rhizomelia |
ORPHA:15 |
| Gaucher Disease |
|
Bilateral tonic-clonic seizure, Proteinuria, Ataxia, Tremor, Hemiplegia/hemiparesis, Oculomotor a... |
ORPHA:355 |
| Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... |
OMIM:219800 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Ataxia, Growth delay, Molar tooth sign on MRI |
OMIM:216360 |
| Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Proteinuria, Chorea, Hydrocephalus, Spinal dysraphism, Seizur... |
ORPHA:2162 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal cerebrospin... |
ORPHA:68 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Infantile spasms, Hemolytic-uremic syndro... |
ORPHA:79282 |
| Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
| Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Ataxia, Tremor, Seizure, Normal pressure hydrocephalus, Gait di... |
OMIM:216400 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ataxia, Tremor, Seizure, Hydronep... |
ORPHA:2750 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Chordee, Proteinuria |
OMIM:300519 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
| Familial Mediterranean Fever |
|
Proteinuria, Nephrocalcinosis, Seizure, Nephrotic syndrome, Nephropathy |
ORPHA:342 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Molar tooth sign on MRI, Dilat... |
ORPHA:434179 |
| Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
| Desmosterolosis |
|
Severe short stature, Hydrocephalus, Growth delay, Intrauterine growth retardation, Agenesis of c... |
ORPHA:35107 |
| Wagro Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
| Tetrasomy 5P |
|
Postnatal growth retardation, Hydrocephalus |
ORPHA:3309 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy |
ORPHA:1018 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... |
ORPHA:340 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Holoprosencephaly, Agenesis of corpus ... |
OMIM:253800 |
| Aymé-Gripp Syndrome |
|
Proteinuria, Hydrocephalus, Seizure, Febrile seizure (within the age range of 3 months to 6 years... |
ORPHA:1272 |
| Desmosterolosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Rhizomelia, Ventriculomegaly |
OMIM:602398 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation, Ventriculo... |
OMIM:605627 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:300855 |
| 16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Colpocephaly |
OMIM:309801 |
| Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Ataxia, Lacticaciduria, Renal cyst, Increased CSF lactate, Seiz... |
ORPHA:699 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Seizure, Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures |
ORPHA:71212 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Renal agenesis, Hydrocephalus, Renal hypoplasia, Holoprosencephaly, Micropenis |
OMIM:264480 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Severe short stature |
ORPHA:1865 |
| Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... |
ORPHA:470 |
| Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus |
ORPHA:2306 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
| Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Heparan sulfate excretion in urine, Hydrocephalus, Abnormal pyramidal... |
ORPHA:581 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Proportionate short stature, Dysplastic corpus callosum, Lateral ventricle dilatation, Progressiv... |
ORPHA:500150 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Hydrocephalus, Abnormal renal morphology, Horseshoe kidney, Seizure, Nep... |
ORPHA:314585 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Hypoplasia of the brainstem, Kinked... |
OMIM:236670 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Myelomeningocele, Hydrocephalus, Seizure, Polycystic kidney dysplasia |
OMIM:311200 |
| Cerebral Visual Impairment |
|
Cerebral palsy, Hydrocephalus, Clumsiness, Seizure, Oculomotor apraxia |
ORPHA:447788 |
| Gaucher Disease Type 1 |
|
Hematuria, Proteinuria |
ORPHA:77259 |
| Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinence, Tremor, Chorea, Myoglobinuri... |
ORPHA:94093 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Seizure, Multiple renal cysts, ... |
ORPHA:538 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Inability to walk, Colpocephaly, Short stature, Ataxia |
OMIM:620083 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Ataxia, Tremor, Seizure, Normal pressure hydrocephalus, Micropenis |
OMIM:133540 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Hydrocephalus, Disproportionate short-limb shor... |
OMIM:101800 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Stromme Syndrome |
|
Hydrocephalus, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| 1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Seizure, Hydrocephalus, Hydronephrosis |
ORPHA:250989 |
| Achondroplasia |
|
Brain stem compression, Hydrocephalus, Neonatal short-limb short stature, Rhizomelia |
OMIM:100800 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Athetosis, Hydrocephalus |
OMIM:239300 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Clonus, Proximal renal tubular acidosis, Nephro... |
ORPHA:534 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Hydrocephalus |
ORPHA:3301 |
| Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Seizure, Hemipleg... |
ORPHA:900 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria |
OMIM:609015 |
| Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Short stature |
OMIM:619185 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Panhypopituitar... |
OMIM:610828 |
| Choreoacanthocytosis |
|
Loss of ambulation, Lateral ventricle dilatation, Falls |
ORPHA:2388 |
| Rabin-Pappas Syndrome |
|
Hypoplasia of the pons, Hydrocephalus |
OMIM:620155 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Growth delay, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:607872 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Dextrocardia |
|
Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... |
OMIM:233450 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Generalized-onset seizure, Clonus, Hydrocephalus, Spastic tetraplegia, Seizure, Stillbirth, Hyper... |
OMIM:259720 |
| Monosomy 18Q |
|
Hydrocephalus, Poor coordination, Choreoathetosis, Seizure, Micropenis |
ORPHA:1600 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
| Tuberous Sclerosis Complex |
|
Epileptic spasm, Renal insufficiency, Abnormality of the kidney, Infantile spasms, Focal-onset se... |
ORPHA:805 |
| Exstrophy-Epispadias Complex |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... |
ORPHA:322 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Lateral ventric... |
OMIM:619534 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Hydrocephalus, Unsteady gait, Dysmetria, Seizure, Enuresi... |
ORPHA:96121 |
| Lateral Meningocele Syndrome |
|
Umbilical hernia, Hydrocephalus, Meningocele, Short stature |
OMIM:130720 |
| Hurler Syndrome |
|
Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ... |
OMIM:607014 |
| Endocrine-Cerebroosteodysplasia |
|
Ventriculomegaly, Hypospadias, Hydrocephalus, Holoprosencephaly, Microphallus, Hyperechogenic kid... |
OMIM:612651 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Mucopolysaccharidosis, Type Vii |
|
Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ... |
OMIM:253220 |
| Orofaciodigital Syndrome Type 6 |
|
Ataxia, Short stature, Growth delay, Gait disturbance, Hypothalamic hamartoma, Molar tooth sign o... |
ORPHA:2754 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Clonic seizure, Hypertonia, Micropenis, Intention tremor, Hypospadias, Ataxia, Seizure, F... |
OMIM:619475 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Lateral ventricular asymmetry |
OMIM:616914 |
| Whipple Disease |
|
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Seizure, Myoclonus |
ORPHA:3452 |
| Khan-Khan-Katsanis Syndrome |
|
Intrauterine growth retardation, Colpocephaly, Short stature, Ventriculomegaly |
OMIM:618460 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum |
ORPHA:1780 |
| Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:301043 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Holoprosencephaly 9 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:610829 |
| Bardet-Biedl Syndrome 20 |
|
Micropenis, Proteinuria |
OMIM:619471 |
| Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Seizure, Nephrotic syndrome, Nephrop... |
ORPHA:324 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Seizure, Hydrocephalus, Ventriculomegaly, Unilateral renal agenesis |
ORPHA:457284 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Seizure, Hypertonia, Oculomotor apraxia, Hydronephrosis |
OMIM:115150 |
| Hurler Syndrome |
|
Cerebral palsy, Hydrocephalus, Abnormal pyramidal sign, Mucopolysacchariduria, Spastic paraparesis |
ORPHA:93473 |
| Meningioma |
|
Enlarged pituitary gland, Ataxia, Reduced circulating prolactin concentration, Neoplasm of the an... |
ORPHA:2495 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Mucopolysaccharidosis Type 1 |
|
Hemiplegia/hemiparesis, Hydrocephalus, Mucopolysacchariduria, Paresthesia |
ORPHA:579 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Seizure, Unsteady gait, Proteinuria |
OMIM:616682 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Stage 5 chronic kidney disease, Hypoglycemic seizures, Nephrolithiasis, Nephrocalcin... |
ORPHA:79259 |
| Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
| Mend Syndrome |
|
Hydrocephalus, Seizure, Hypertonia, Crossed fused renal ectopia, Dandy-Walker malformation |
OMIM:300960 |
| Apert Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:87 |
| Orofaciodigital Syndrome Vi |
|
Short stature, Hypothalamic hamartoma, Molar tooth sign on MRI, Occipital meningocele, Agenesis o... |
OMIM:277170 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Renal hypoplasia, Holoprosencephaly, Neonatal death, Cystic renal dys... |
OMIM:269860 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Unsteady gait, Brain stem compression |
ORPHA:637 |
| Acquired Generalized Lipodystrophy |
|
Proteinuria |
ORPHA:79086 |
| Mohr Syndrome |
|
Hydrocephalus, Short stature |
OMIM:252100 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Growth delay, Hydrocephalus, Short stature, Decreased response to growth hormone stimulation test |
OMIM:616007 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... |
ORPHA:447 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria |
ORPHA:79240 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:1555 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Rhizomelia |
OMIM:618162 |
| Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrauterine growth retardation, Colpocephaly, Athetosis, Agenesis of corpus callosum |
OMIM:614866 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Seizure, Anuria, Acute kidney injury, Hemoglobinuria |
ORPHA:90038 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
| Split Cord Malformation |
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Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Paraparesi... |
ORPHA:573278 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Ureteral obstruction, Myelomeningocele, Hydrocephalus, Hydronephrosis |
ORPHA:90652 |
| Alobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
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Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
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Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
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Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... |
ORPHA:220386 |
| Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Disproportionate short stature, Rhizomelia |
OMIM:260660 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Mo... |
OMIM:249000 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... |
ORPHA:91500 |
| Raine Syndrome |
|
Neonatal death, Hydrocephalus, Hydroureter, Hydronephrosis |
OMIM:259775 |
| Postinfectious Vasculitis |
|
Hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis |
ORPHA:48435 |
| H Syndrome |
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Hydrocephalus, Micropenis, Abnormality of the kidney, Enlarged kidney |
ORPHA:168569 |
| Capillary Malformation-Arteriovenous Malformation |
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Seizure, Neurogenic bladder, Hydrocephalus |
ORPHA:137667 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Myoglobinuria |
ORPHA:264580 |
| Congenital Myopathy 22A, Classic |
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Neonatal death, Frequent falls, Normal pressure hydrocephalus, Waddling gait |
OMIM:620351 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Encephalocele, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Hydrocephalus, Abnorma... |
ORPHA:2166 |
| Mycophenolate Mofetil Embryopathy |
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Hydrocephalus, Ectopic kidney |
ORPHA:268249 |
| Opitz-Kaveggia Syndrome |
|
Seizure, Spasticity, Hypospadias, Hydrocephalus |
OMIM:305450 |
| Fanconi Anemia, Complementation Group D2 |
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Duplicated collecting system, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Mi... |
OMIM:227646 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:617011 |
| Histiocytoid Cardiomyopathy |
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Hemiplegia, Seizure, Hydrocephalus, Renal cyst |
ORPHA:137675 |
| Hyperparathyroidism, Transient Neonatal |
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Communicating hydrocephalus, Enlarged kidney, Ventriculomegaly, Unilateral renal agenesis |
OMIM:618188 |
| Monosomy 9Q22.3 |
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Umbilical hernia, Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
| Infection-Related Hemolytic Uremic Syndrome |
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Anuria, Oliguria, Hemiparesis, Seizure, Acute kidney injury, Nephrotic range proteinuria, Decreas... |
ORPHA:544482 |
| Trisomy 8P |
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Fetal pyelectasis, Hydrocephalus, Nephrocalcinosis, Seizure, Micropenis, Hydronephrosis, Dandy-Wa... |
ORPHA:264450 |
| Coccidioidomycosis |
|
Renal insufficiency, Abnormality of the kidney, CSF pleocytosis, Hydrocephalus, Abnormality of th... |
ORPHA:228123 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
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Seizure, Hydrocephalus, Enlarged kidney |
OMIM:261740 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Encephalocele, Rhizomelia, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:616300 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mye... |
OMIM:258040 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
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Speech apraxia, Recurrent urinary tract infections, Generalized-onset seizure, Hypospadias, Spina... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
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Speech apraxia, Recurrent urinary tract infections, Generalized-onset seizure, Hypospadias, Spina... |
ORPHA:363958 |
| Mucopolysaccharidosis, Type Vi |
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Seizure, Hydrocephalus, Cervical myelopathy, Dermatan sulfate excretion in urine |
OMIM:253200 |
| Fanconi Anemia, Complementation Group L |
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Hydrocephalus, Micropenis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:614083 |
| Insulin-Resistance Syndrome Type B |
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Proteinuria, Nephritis, Glycosuria |
ORPHA:2298 |
| Relapsing Polychondritis |
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Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:728 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Dubowitz Syndrome |
|
Hypospadias, Hydrocephalus, Seizure, Spina bifida occulta, Hydronephrosis |
ORPHA:235 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hydrocephalus, Short stature, Gait disturbance |
ORPHA:3042 |
| Genitourinary And/Or Brain Malformation Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:618820 |
| 6Q Terminal Deletion Syndrome |
|
Colpocephaly, Dysmetria, Gait ataxia |
ORPHA:75857 |
| Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:619562 |
| Williams Syndrome |
|
Hypoplasia of penis, Tremor, Abnormal tubulointerstitial morphology, Dysmetria, Nephrocalcinosis,... |
ORPHA:904 |
| Jacobsen Syndrome |
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Hydrocephalus, Spasticity, Hypospadias, Holoprosencephaly |
OMIM:147791 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Bilateral tonic-clonic seizure, Gait ataxia, Difficulty walking, Mic... |
ORPHA:457359 |
| Cardiofaciocutaneous Syndrome |
|
Hydrocephalus, Hydronephrosis |
ORPHA:1340 |
| Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Hydrocephalus, Anencephaly, Lo... |
ORPHA:564 |
| Osteopathia Striata With Cranial Sclerosis |
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Seizure, Multicystic kidney dysplasia, Spina bifida occulta, Hydrocephalus |
OMIM:300373 |
| Apert Syndrome |
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Rhizomelic arm shortening, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:101200 |
| Glycogen Storage Disease Xii |
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Hemoglobinuria |
OMIM:611881 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Broad-based gait, Short stature, Inability to walk, Lateral ventricle dilatation, Agenesis of cor... |
ORPHA:261537 |
| Smith-Lemli-Opitz Syndrome |
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Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
| Joubert Syndrome 5 |
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Molar tooth sign on MRI, Occipital encephalocele, Ataxia, Thickened superior cerebellar peduncle |
OMIM:610188 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Rhizomelia, Short stature, Hydrocephalus |
OMIM:245600 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Broad-based gait, Hydrocephalus, Limb ataxia, Growth delay, Delayed puberty, Ventriculomegaly |
ORPHA:2072 |
| Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Recurrent urinary tract infections, Ataxia, Spastic paraplegia, Clum... |
ORPHA:309282 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hydrocephalus, Micropenis, Hypospadias, Hydronephrosis |
ORPHA:163979 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Short stature, Inability to walk, Lateral ventricle dilatation, Agenesis of cor... |
ORPHA:261552 |
| Mend Syndrome |
|
Hydrocephalus, Short stature, Dandy-Walker malformation |
ORPHA:401973 |
| Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Ataxia, Hydrocephalus, Hypercalciuria, Nephrolithiasis, Noncommunica... |
ORPHA:666 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Hydrocephalus, Dilatation of the renal pelvis, Stillbirth... |
ORPHA:95699 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Seizure, Hydrocephalus, Unilateral renal agenesis |
ORPHA:261337 |
| Kawasaki Disease |
|
Proteinuria, Sterile pyuria |
ORPHA:2331 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Umbilical hernia, Hydrocephalus |
OMIM:182212 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intrauterine growth retardation, Hydrocephalus, Short stature |
OMIM:619321 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
| Hajdu-Cheney Syndrome |
|
Hydrocephalus, Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
| Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Spina bifida, ... |
ORPHA:84 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly |
ORPHA:477993 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Postnatal growth retardation, Hydrocephalus |
ORPHA:536467 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Seizure... |
ORPHA:363700 |
| Marshall-Smith Syndrome |
|
Short stature, Hydrocephalus, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:602535 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Spina bifida, Hydrocephalus, Meningocele, Renal hypoplasia, Occipital myelomeningoce... |
ORPHA:567 |
| Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Myelomeningocele, Hydrocephalus, Renal hypo... |
OMIM:219000 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal midbrain morpholog... |
ORPHA:293987 |
| Tetraamelia Syndrome 1 |
|
Urethral atresia, Hydrocephalus, Renal agenesis |
OMIM:273395 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Campomelic Dysplasia |
|
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Seizure, Hydronephrosis |
OMIM:114290 |
| Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Hydrocephalus, Horseshoe kidney, Seizure, Mu... |
ORPHA:3310 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Seizure, Status epilepticus |
ORPHA:2556 |
| Hajdu-Cheney Syndrome |
|
Multiple renal cysts, Hypospadias, Hydrocephalus |
ORPHA:955 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Epispadias, Hydrocephalus, Hypospadias |
ORPHA:2658 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Ataxia, Action tremor, Tremor, Hydrocephalus, Wi... |
ORPHA:3455 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly, Hypoplasia of the brainstem |
OMIM:253280 |
| Pseudoaminopterin Syndrome |
|
Hydrocephalus, Horseshoe kidney |
ORPHA:221120 |
| Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Horseshoe kidney |
ORPHA:1106 |
| Peters Plus Syndrome |
|
Rhizomelia, Short stature, Postnatal growth retardation, Hydrocephalus, Umbilical hernia, Disprop... |
ORPHA:709 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Hydrocephalus |
ORPHA:667 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematuria, Proteinuria, Fasciculations |
ORPHA:99827 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, ... |
OMIM:619841 |
| Wolf-Hirschhorn Syndrome |
|
Short stature, Hydrocephalus, Growth delay, Severe postnatal growth retardation, Intrauterine gro... |
OMIM:194190 |
| Neurofibromatosis Type 1 |
|
Hydrocephalus, Short stature, Ataxia, Delayed puberty |
ORPHA:636 |
| Fetal Akinesia Deformation Sequence 1 |
|
Intrauterine growth retardation, Hydrocephalus, Short umbilical cord, Small placenta |
OMIM:208150 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Holoprosencephaly, Molar tooth ... |
OMIM:615948 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Abnormal lateral ventricle morphol... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Postnatal growth retardation, Intrauterine growth retardation, Abnormal lateral ventricle morphol... |
ORPHA:353277 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Anencephaly, Stillbirth, Severe hydrocephalus, Hydronephrosis, Dandy-Walker malforma... |
OMIM:236680 |
| Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Hydrocephalus, Re... |
OMIM:107480 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Aprosencephaly |
OMIM:601374 |
| Costello Syndrome |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:218040 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Hydrocephalus, Long penis, Hypertonia, Truncal ataxia, Dandy-Walker malformation, In... |
OMIM:264090 |
| Fontaine Progeroid Syndrome |
|
Neonatal death, Micropenis, Hydrocephalus |
OMIM:612289 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Horseshoe kidney, Bi... |
OMIM:305600 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Focal-onset seizure, Hydrocephalus, Babinski sign, Hemiparesis, Seizure, Tetraparesis, Hemiplegia... |
OMIM:175780 |
| Peters-Plus Syndrome |
|
Rhizomelia, Postnatal growth retardation, Hydrocephalus, Birth length less than 3rd percentile, U... |
OMIM:261540 |
| Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Hydrocephalus, Severe intrauterine growth retardation, Spina... |
OMIM:218600 |
| Yunis-Varon Syndrome |
|
Postnatal growth retardation, Agenesis of corpus callosum, Hydrocephalus, Short stature |
ORPHA:3472 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Hydrocephalus, Stillbirth, Hydronephrosis |
OMIM:304120 |
| Coffin-Siris Syndrome 12 |
|
Seizure, Hypospadias, Noncommunicating hydrocephalus, Horseshoe kidney |
OMIM:619325 |
| Pmm2-Cdg |
|
Proteinuria, Ataxia, Abnormality of coordination, Seizure, Nephrotic syndrome, Multiple renal cys... |
ORPHA:79318 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:2462 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Ataxia, Seizure, Tip-toe gait, Difficulty walking |
ORPHA:98914 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Hydrocephalus, Long penis, Frontal encephalocele, Horseshoe kidney, Stillbirth, Poly... |
OMIM:268300 |
| Genitopatellar Syndrome |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Hydrocephalus, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephros... |
OMIM:312870 |
| Loeys-Dietz Syndrome 2 |
|
Umbilical hernia, Hydrocephalus |
OMIM:610168 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Seizure |
ORPHA:580 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Hydrocepha... |
OMIM:164210 |
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Oculomotor apraxia |
OMIM:618198 |
