| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Eosinophilia, Familial |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
OMIM:131400 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... |
OMIM:202700 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Hydrocephalus |
OMIM:209970 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Inability to walk, Basal ganglia necrosis, Dystonia, Basal ganglia gliosis, Basal ganglia cysts, ... |
ORPHA:79243 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ventriculomegaly, Ectopic kidney, Renal agenesis, Ureteral duplication, Hydroce... |
OMIM:602200 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... |
ORPHA:300573 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
ORPHA:517 |
| Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
| Alexander Disease |
|
Increased CSF protein, Hydrocephalus |
OMIM:203450 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| T-Cell Receptor-Alpha/Beta Deficiency |
|
Hypereosinophilia |
OMIM:615387 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Hydrocephalus |
OMIM:166990 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
| Cach Syndrome |
|
T2 hypointense thalamus, Truncal ataxia, Renal hypoplasia, Limb ataxia, Growth delay, Cerebral at... |
ORPHA:135 |
| Pineocytoma |
|
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus |
ORPHA:251912 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Renal cyst, Colpocephaly |
OMIM:614870 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, ... |
OMIM:618709 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... |
OMIM:615937 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
| Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Difficulty walking, Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomegaly, Multif... |
ORPHA:488627 |
| Slc35A2-Cdg |
|
Inability to walk, Abnormal renal morphology, Transient nephrotic syndrome, Cerebral white matter... |
ORPHA:356961 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly... |
OMIM:615287 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Ventriculomegaly, Normal pressure hydrocephalus |
OMIM:611808 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Difficulty walking, Bradykinesia, Cerebral cortical hemiatrophy, Dilation of lateral ve... |
ORPHA:306669 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Mental Retardation, Autosomal Dominant 48 |
|
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Hypospadias, Microce... |
OMIM:617751 |
| Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
| Atypical Teratoid Rhabdoid Tumor |
|
Cerebral calcification, Hydrocephalus, Ataxia |
ORPHA:99966 |
| Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles |
ORPHA:101071 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617967 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... |
OMIM:614817 |
| Chudley-Mccullough Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... |
OMIM:604213 |
| Polyrrhinia |
|
Dilation of lateral ventricles, Abnormal third ventricle morphology |
ORPHA:141091 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles |
OMIM:300864 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Vesicoureteral reflux, Severe postnatal growth retardation, Microcephal... |
ORPHA:3078 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney |
OMIM:615993 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Abnormal pons morphology, ... |
ORPHA:77299 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Glutaric aciduria, Subependymal cysts, D-2-hydroxyglutaric aciduria, Multifocal cerebral white ma... |
OMIM:600721 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly, Short stature, Microcephaly, Agenesis of corpus callosum, Shuffl... |
OMIM:303350 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ventriculomegaly, Ectopic kidney, Secondary microcephaly, Abnormality of ... |
OMIM:613730 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... |
OMIM:600348 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
| Bilateral Generalized Polymicrogyria |
|
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... |
ORPHA:208447 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Hypoplasia of the brainstem, Dystonia, Type II lissencephaly, Postnatal growth retardation, Torti... |
ORPHA:300570 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... |
ORPHA:178469 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Corpus callosum atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum, Loss of abilit... |
ORPHA:565624 |
| Candidiasis, Familial, 2 |
|
Hypereosinophilia |
OMIM:212050 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Dilated third ventricle, Diffuse cerebral atrophy, Scissor gait, Dilation of latera... |
ORPHA:363654 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hyperglycinemia, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Dilation of... |
ORPHA:284417 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Open operculum, Renal insufficiency, Renal cortical cysts, Absent septum pellucidum, Ventriculome... |
ORPHA:397715 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Micro... |
OMIM:618606 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... |
OMIM:618736 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Lissencephaly, X-Linked, 1 |
|
Pachygyria, Ataxia, Postnatal growth retardation, Agyria, Micropenis, Agenesis of corpus callosum... |
OMIM:300067 |
| Orofaciodigital Syndrome Xv |
|
Ventriculomegaly, Molar tooth sign on MRI, Hydronephrosis, Agenesis of corpus callosum |
OMIM:617127 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Molar tooth sign on MRI, Renal cyst, Dandy-Walker malformation |
OMIM:614465 |
| Nephronophthisis 20 |
|
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
| Distal Monosomy 10Q |
|
Cavum septum pellucidum, Horseshoe kidney, Acute kidney injury, Enuresis, Ataxia, Dilation of lat... |
ORPHA:96148 |
| Nephronophthisis 18 |
|
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... |
OMIM:615862 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hydrocephalus, Attention deficit hyperactivity disorder |
ORPHA:250994 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia |
OMIM:243700 |
| Meckel Syndrome, Type 10 |
|
Anencephaly, Renal cyst, Hypospadias, Molar tooth sign on MRI, Micropenis |
OMIM:614175 |
| Cog5-Cdg |
|
Neurogenic bladder, Truncal ataxia, Cerebral white matter atrophy, Urinary incontinence, Atrophy/... |
ORPHA:263487 |
| Joubert Syndrome 7 |
|
Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Ataxia, Abnormal corpus callo... |
OMIM:611560 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Hypoplasia of the corpus callosum, Dilation of lateral ventricles |
OMIM:616816 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
| Methylmalonic Acidemia With Homocystinuria |
|
Microcephaly, Gait disturbance, Lethargy, Hydrocephalus |
ORPHA:26 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Ureteral atresia, Hydronephrosis, Spina bifida occulta, Myelomeningocele, Hydrocephalus |
OMIM:183802 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:601859 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait ataxia, Hypoplasia of the corpus callosum, Growth delay, Intrauterine growth retardation, Ab... |
ORPHA:488635 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Delayed puberty, Hydrocephalus, Short stature |
ORPHA:141333 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Developmental And Epileptic Encephalopathy 36 |
|
Microcephaly, Cerebral atrophy, Hydrocephalus |
OMIM:300884 |
| Gómez-López-Hernández Syndrome |
|
Short stature, Abnormal brainstem morphology, Hydrocephalus, Ataxia |
ORPHA:1532 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hypoplasia of the brainstem, Renal hypoplasia, Renal dysplasia, Hydranencephaly, Renal cyst, Uret... |
OMIM:236500 |
| Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Nephronophthisis, Ataxia, Elongated superior cerebellar p... |
OMIM:609583 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... |
OMIM:617805 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Type II lissencephaly, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydr... |
OMIM:613154 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Difficulty walking... |
ORPHA:572798 |
| Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Glutamine Deficiency, Congenital |
|
Hypoplasia of the corpus callosum, Hypoglutaminemia, Subependymal cysts, Hyperammonemia, Dilation... |
OMIM:610015 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... |
OMIM:143400 |
| Glutaric Acidemia I |
|
Dystonia, Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Dilatio... |
OMIM:231670 |
| Hereditary Renal Hypouricemia |
|
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... |
ORPHA:94088 |
| Coach Syndrome 3 |
|
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Ataxia, Renal tub... |
OMIM:619113 |
| Paganini-Miozzo Syndrome |
|
Urinary incontinence, Dilation of lateral ventricles |
OMIM:301025 |
| Meckel Syndrome, Type 4 |
|
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Renal cyst, Intrauterine growth reta... |
OMIM:611134 |
| Malan Overgrowth Syndrome |
|
Hypoplasia of the brainstem, Episodic ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly... |
ORPHA:420179 |
| Joubert Syndrome 2 |
|
Abnormal renal physiology, Nephronophthisis, Hypoplasia of the brainstem, Thickened superior cere... |
OMIM:608091 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... |
ORPHA:2703 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles |
OMIM:618890 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Renal cyst, Chronic kidney diseas... |
OMIM:617056 |
| Fried Syndrome |
|
Gait disturbance, Hydrocephalus, Cerebral calcification |
ORPHA:85335 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis |
OMIM:618270 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Hypoplasia of the corpus callosum, Dilation of lateral ventricles |
OMIM:618914 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... |
ORPHA:93101 |
| Diencephalic Syndrome |
|
Long penis, Hydrocephalus |
ORPHA:1672 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... |
OMIM:603554 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
| Craniofacial Dyssynostosis With Short Stature |
|
Horseshoe kidney, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegal... |
OMIM:218350 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Dandy-Walker malformation, Multicystic kidney dysplasia |
ORPHA:3032 |
| Joubert Syndrome 14 |
|
Growth delay, Ataxia, Renal cyst, Hydrocephalus, Dandy-Walker malformation |
OMIM:614424 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Cavum septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum... |
ORPHA:464738 |
| Hsd10 Disease |
|
Ventriculomegaly, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy, Postnatal growth ret... |
ORPHA:391417 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Glandular hypospadias, Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcep... |
ORPHA:293725 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Microcephaly |
ORPHA:1046 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| Pettigrew Syndrome |
|
Gait ataxia, Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Hydrocep... |
OMIM:304340 |
| Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,... |
ORPHA:2185 |
| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys |
OMIM:617610 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia |
OMIM:618282 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Polycystic kidney dysplasia, Ataxia |
OMIM:617562 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Ventriculomegaly, Neutropenia, Thr... |
OMIM:304790 |
| Williams-Beuren Region Duplication Syndrome |
|
Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomegaly, Unilateral renal agenesis,... |
OMIM:609757 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Renal Tubular Dysgenesis |
|
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Microcephaly |
ORPHA:3033 |
| Verheij Syndrome |
|
Renal hypoplasia, Growth delay, Cerebral atrophy, Renal cyst, Short stature, Renal agenesis, Micr... |
OMIM:615583 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Ce... |
ORPHA:1834 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... |
ORPHA:169154 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum |
OMIM:617296 |
| Aicardi-Goutieres Syndrome 4 |
|
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebral calcificatio... |
OMIM:610333 |
| Achondroplasia |
|
Brain stem compression, Rhizomelia, Megalencephaly, Hydrocephalus, Neonatal short-limb short stature |
OMIM:100800 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Intrauterine growth retardation, Renal agenesis, Ureteral dysgenesis, Ureteral agenesis |
OMIM:274265 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia |
OMIM:618092 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Polycystic kidney dysplasia, Hydrocephalus |
OMIM:617866 |
| Central Neurocytoma |
|
Lethargy, Hydrocephalus, Ataxia, Cerebral calcification, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Cinca Syndrome |
|
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia |
OMIM:607115 |
| Joubert Syndrome 3 |
|
Nephronophthisis, Enlarged fossa interpeduncularis, Ataxia, Elongated superior cerebellar peduncl... |
OMIM:608629 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebr... |
OMIM:613153 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the anterior co... |
OMIM:617542 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplas... |
ORPHA:2822 |
| Lissencephaly 5 |
|
Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus ... |
OMIM:615191 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis, Hydrocephalus |
ORPHA:251046 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Gait disturbance, Multicystic kidney dysplasia |
ORPHA:3270 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Akinesia, Ventriculomegaly, Hydranencep... |
OMIM:225790 |
| Coach Syndrome 2 |
|
Hydrocephalus, Elevated circulating creatinine concentration, Hyperechogenic kidneys, Molar tooth... |
OMIM:619111 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| Mosaic Trisomy 1 |
|
Penile hypospadias, Renal cortical cysts, Polymicrogyria, Renal cyst, Micropenis, Agenesis of cor... |
ORPHA:1692 |
| Methylcobalamin Deficiency Type Cble |
|
Hypoplasia of the brainstem, Lethargy, Ventriculomegaly, Abnormal cerebral white matter morpholog... |
ORPHA:2169 |
| Rhyns Syndrome |
|
Nephronophthisis, Hypopituitarism, Multicystic kidney dysplasia |
ORPHA:140976 |
| Bresek Syndrome |
|
Hypoplasia of the bladder, Renal hypoplasia, Growth delay, Renal dysplasia, Vesicoureteral reflux... |
ORPHA:85284 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypoplasia of the brainstem, Dystonia, Hydrocephalus, Simplified gyral pattern, Agenesis of corpu... |
OMIM:619302 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... |
ORPHA:617 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Nephropathy, Ataxia, Renal dysplasia, Renal cyst, Stage 5 chronic kidney diseas... |
OMIM:266920 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Ataxia, Multicystic kidney dysplasia, Renal fibrosis, Hydrone... |
OMIM:618161 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Urinary incontinence, Gait disturbance, Normal pressure hydrocephalus |
OMIM:236690 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Cerebral calcification, Elevated circulating creatine kinase concentration, Rena... |
ORPHA:228308 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia |
OMIM:147060 |
| 16P13.2 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomeg... |
ORPHA:500055 |
| Arnold-Chiari Malformation Type Ii |
|
Neurogenic bladder, Agenesis of corpus callosum, Brain stem compression, Difficulty walking, Vent... |
ORPHA:1136 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... |
ORPHA:486 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Lethargy, Pachygyria, Renal hypoplasia, Increased CSF lactate, Hypoplasia of the corpus callosum,... |
OMIM:614922 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Multiple renal cysts, Cerebral cortical atrophy, Vesicoureteral reflux, Short stature, Renal hypo... |
ORPHA:1166 |
| Neural Tube Defects, Susceptibility To |
|
Anencephaly, Urinary incontinence, Spina bifida occulta, Myelomeningocele, Hydrocephalus |
OMIM:182940 |
| Joubert Syndrome 15 |
|
Nephronophthisis, Molar tooth sign on MRI, Micropenis, Ataxia |
OMIM:614464 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative glomerulonephritis, Delayed... |
ORPHA:251004 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Pachygyria, Agenesis of corpus callosum, Decreased plasma total carnitine, Cysti... |
ORPHA:157 |
| Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Hydrocephalus, Aqueductal stenosis |
OMIM:276950 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Renal cyst |
OMIM:614970 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612926 |
| Pallister-Hall-Like Syndrome |
|
Hypothalamic hamartoma, Anterior hypopituitarism, Renal dysplasia, Micropenis, Hydrocephalus |
OMIM:241800 |
| Joubert Syndrome 22 |
|
Temporal cortical atrophy, Renal hypoplasia, Hypoplasia of the corpus callosum, Intrauterine grow... |
OMIM:615665 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Ventriculomegaly, Multicystic kidney dysplasia, Meningocele, Renal cyst, Short stature |
ORPHA:2031 |
| Joubert Syndrome 18 |
|
Intrauterine growth retardation, Molar tooth sign on MRI, Horseshoe kidney |
OMIM:614815 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Joubert Syndrome 6 |
|
Thickened superior cerebellar peduncle, Nephronophthisis, Enlarged fossa interpeduncularis, Ataxi... |
OMIM:610688 |
| Adult Krabbe Disease |
|
Abnormal midbrain morphology, Gait disturbance, Ataxia, Urinary incontinence, Increased CSF prote... |
ORPHA:206448 |
| Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive |
|
Eosinophilia |
OMIM:618523 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Nephroblastoma, Hydroc... |
OMIM:602501 |
| X-Linked Intellectual Disability, Wilson Type |
|
Microcephaly, Growth delay, Dilation of lateral ventricles |
ORPHA:85290 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Attention deficit hyperactivity disorder, Multicystic kidney dysplasia |
ORPHA:3375 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria |
OMIM:614173 |
| Papillary Tumor Of The Pineal Region |
|
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus |
ORPHA:251915 |
| 1Q44 Microdeletion Syndrome |
|
Horseshoe kidney, Agenesis of corpus callosum, Ventriculomegaly, Growth delay, Vesicoureteral ref... |
ORPHA:238769 |
| Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Horseshoe kidney, Agenesis of corpus callosum, Absent septum pellucidu... |
OMIM:609053 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Polymicrogyria, Megalencephaly, Hydrocephalus, Abnormal localization of kidney |
ORPHA:83473 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Abnormality of the septum pellucidum, Renal agenesis, Renal hypoplasia, Cerebral atrophy, Hypospa... |
ORPHA:171839 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Increased blood urea nitrog... |
ORPHA:49041 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter... |
ORPHA:352682 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Hyperammonemia, Lethargy, Basal ganglia cysts, Decreased plasma total ... |
OMIM:608836 |
| Mental Retardation, Buenos Aires Type |
|
Abnormality of the urinary system, Spastic gait, Hypospadias, Microcephaly, Hydrocephalus, Partia... |
OMIM:249630 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia |
OMIM:610163 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Renal cyst |
OMIM:174050 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia |
ORPHA:1909 |
| Roifman Syndrome |
|
Hepatosplenomegaly, Eosinophilia |
ORPHA:353298 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Short stature, Abnormality of the ureter |
ORPHA:1035 |
| Say Syndrome |
|
Microcephaly, Proximal renal tubular acidosis, Short stature, Cystic renal dysplasia |
OMIM:181180 |
| Roifman Syndrome |
|
Eosinophilia, Splenomegaly |
OMIM:616651 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Hydronephrosis, Short stature, Renal cyst |
OMIM:613390 |
| Holoprosencephaly 5 |
|
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... |
OMIM:609637 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... |
ORPHA:93109 |
| Joubert Syndrome 31 |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Molar tooth sign on MRI, Truncal ataxia |
OMIM:617761 |
| Femoral-Facial Syndrome |
|
Long penis, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal localization of... |
ORPHA:1988 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomega... |
ORPHA:819 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Cerebral cortical atrophy,... |
ORPHA:2842 |
| Immunodeficiency 49 |
|
Lymphopenia, Eosinophilia |
OMIM:617237 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... |
ORPHA:331206 |
| Meckel Syndrome, Type 2 |
|
Anencephaly, Meningocele, Renal cyst, Intrauterine growth retardation, Dandy-Walker malformation |
OMIM:603194 |
| Kohlschutter-Tonz Syndrome-Like |
|
Inability to walk, Ventriculomegaly, Recurrent urinary tract infections, Ataxia, Intrauterine gro... |
OMIM:619229 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Cerebral atrophy, Hydrocephalus, Nephrotic syndrome |
OMIM:269920 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Hematuria, Ele... |
ORPHA:231111 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Microcephaly, Hydronephrosis, Renal... |
ORPHA:1926 |
| Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... |
ORPHA:98849 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
| Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen, Difficulty walking, Gait disturbance, Ataxia, Postnatal growth ret... |
ORPHA:90321 |
| Joubert Syndrome 1 |
|
Hypoplasia of the brainstem, Brainstem dysplasia, Enlarged fossa interpeduncularis, Nephropathy, ... |
OMIM:213300 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Polymicrogyria, Multiple renal cysts, Renal cyst, Lissencephaly |
OMIM:614883 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Ventriculomegaly, Chronic kidney disease, Short stature, Hydrocephalus |
OMIM:615630 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Abnormality of the ure... |
ORPHA:2970 |
| Septopreoptic Holoprosencephaly |
|
Abnormality of the septum pellucidum, Abnormal midbrain morphology, Megalencephaly, Abnormal corp... |
ORPHA:280195 |
| Oxoglutaric Aciduria |
|
Short stature, Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration, Ataxia |
ORPHA:31 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturba... |
ORPHA:272 |
| Silver-Russell Syndrome 1 |
|
Urethral valve, Abnormality of the ureter, Nephroblastoma, Congenital posterior urethral valve, I... |
OMIM:180860 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Microcephaly, Short stature, Abnormality of the ureter |
ORPHA:2522 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Cavum septum pellucidum, Abnormal cerebral white matter morphology, Ataxia, Abnormal corpus callo... |
ORPHA:457279 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Difficulty walking, Hypoplasia of the corpus callosum, Spastic gait, Colpocephaly |
ORPHA:401815 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... |
ORPHA:2148 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia |
ORPHA:169160 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilia |
OMIM:618999 |
| Caudal Regression Sequence |
|
Renal agenesis, Arrhinencephaly, Abnormality of the ureter, Vesicoureteral reflux, Ectopic kidney... |
ORPHA:3027 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Agenesis o... |
ORPHA:250972 |
| Joubert Syndrome 9 |
|
Ventriculomegaly, Molar tooth sign on MRI, Stage 5 chronic kidney disease |
OMIM:612285 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... |
ORPHA:544488 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Proximal tubulopathy, Unilateral renal agene... |
OMIM:614576 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydronephrosis, Intrauterine growth retardation, Hypospadias, Hydrocephalus, Dandy-Walker malform... |
OMIM:220210 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Renal insufficiency, Renal corticomedullary cysts, Hydrocephalus |
OMIM:219730 |
| Omenn Syndrome |
|
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia |
ORPHA:39041 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Short stature, Intrauterine growth retardation, Hydro... |
OMIM:616222 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Ventriculomegaly, Hydrocephalus |
ORPHA:324416 |
| Galloway-Mowat Syndrome |
|
Pachygyria, Aqueductal stenosis, Nephropathy, Short stature, Nephrotic syndrome, Intrauterine gro... |
ORPHA:2065 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Open operculum, Dystonia, Abnormal caudate nucleus morphology, Pallidal degeneration, Glutaric ac... |
ORPHA:25 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
| Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification |
ORPHA:1931 |
| Medullary cystic kidney disease 2 |
|
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Renal corticomedullary cyst... |
OMIM:603860 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Microcephaly, Elevated hemoglobin A1c, Dilation of lateral ventricles |
OMIM:619278 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum, Dilation of lateral ventricles |
OMIM:300952 |
| Craniofacial Dyssynostosis |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Short stature |
ORPHA:1516 |
| Meckel Syndrome, Type 6 |
|
Renal cyst, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... |
OMIM:274150 |
| Central Precocious Puberty |
|
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus, Proportionate sh... |
ORPHA:759 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Agenesis of corp... |
ORPHA:2182 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Nephropathy, Renal cyst, Leukoencephalopathy, Renal insufficiency |
OMIM:611773 |
| Arima Syndrome |
|
Nephronophthisis, Hypoplasia of the brainstem, Tubulointerstitial fibrosis, Brainstem dysplasia, ... |
OMIM:243910 |
| L1 Syndrome |
|
Gait disturbance, Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
| Papillorenal Syndrome |
|
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... |
OMIM:120330 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypodysplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly... |
OMIM:257300 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
| Congenital Toxoplasmosis |
|
Ventriculomegaly, Cerebral calcification, Intrauterine growth retardation, Microcephaly, Hydrocep... |
ORPHA:858 |
| Joubert Syndrome With Renal Defect |
|
Agenesis of corpus callosum, Gait disturbance, Nephropathy, Ataxia, Polymicrogyria, Renal insuffi... |
ORPHA:220497 |
| Meckel Syndrome, Type 3 |
|
Hydrocephalus, Dandy-Walker malformation, Multicystic kidney dysplasia |
OMIM:607361 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus |
OMIM:175700 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Abnormal cerebral white matter morphology, Cerebral atrophy, Dilated third ventricle, Ataxia, Uri... |
ORPHA:314404 |
| Radial Aplasia, X-Linked |
|
Penile hypospadias, Hydrocephalus |
OMIM:312190 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Renal dysplasia, Renal cyst, Short stature, ... |
OMIM:617260 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Hypoplasia of the brainstem, Agenesis of corpus callosum, Typ... |
ORPHA:370959 |
| Coach Syndrome 1 |
|
Nephronophthisis, Dystonia, Growth delay, Unilateral renal agenesis, Ataxia, Renal cyst, Stage 5 ... |
OMIM:216360 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Growth delay, Cerebral atrophy, Hyperbilirubinemia, Elevated circulating long chain fatty acid co... |
OMIM:614886 |
| Uremic Pruritus |
|
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Chronic kidney disease, H... |
ORPHA:94059 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Dystonia, Renal cortical cysts, Increased serum pyruvate, Abnormal cerebral white matter morpholo... |
OMIM:617668 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum,... |
ORPHA:1528 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Focal T2 hyperintense basal ganglia lesion, Renal tubular acidosis, Tubulointerstitial nephritis,... |
ORPHA:255249 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Nephrolithiasis, Postnatal growth retardation, Hydroureter |
OMIM:617219 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Renal cyst |
OMIM:228940 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... |
ORPHA:911 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, E... |
ORPHA:730 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Increased blood urea nitrogen, Growth delay, Glomerular sclerosis, Ele... |
OMIM:223900 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creatinine conce... |
OMIM:235400 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Intrauterine growth retardation, Hypospadias, Microcephaly, Hydroce... |
ORPHA:2075 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation, Abnormality of the kidney, Disp... |
ORPHA:2655 |
| Vesicoureteral Reflux 3 |
|
Vesicoureteral reflux, Hydronephrosis, Hydroureter |
OMIM:613674 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia |
ORPHA:90045 |
| Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Aicardi Syndrome |
|
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Postnatal growth retardat... |
OMIM:304050 |
| Pgm3-Cdg |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... |
ORPHA:443811 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Hydrocephalus, Enlarged kidney |
OMIM:314390 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Agenesis of corpus callosum, Enuresis, Tubulointerstitial nephritis, S... |
ORPHA:459061 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... |
OMIM:220220 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Growth delay, Cerebral atrophy, Hyperbilirubinemia, Absence of renal corticomedulla... |
OMIM:259720 |
| Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Short stature, Abnormality of the kidney |
ORPHA:93274 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum |
OMIM:307000 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum |
OMIM:304100 |
| Trisomy 1Q |
|
Agenesis of corpus callosum, Congenital megaureter, Ventriculomegaly, Multicystic kidney dysplasi... |
ORPHA:261344 |
| Czeizel-Losonci Syndrome |
|
Spina bifida, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis, Spina bif... |
ORPHA:2437 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pachygyria, Micropenis, Polycystic kidney dysplasia, Dilation of lateral ventricles |
OMIM:263520 |
| Marden-Walker Syndrome |
|
Renal agenesis, Agenesis of corpus callosum, Hydrocephalus, Hydroureter, Absent septum pellucidum... |
ORPHA:2461 |
| Multiple Sulfatase Deficiency |
|
Abnormal periventricular white matter morphology, Mucopolysacchariduria, Ventriculomegaly, Cerebr... |
OMIM:272200 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... |
OMIM:102700 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Ureteropelvic junction obstruction, Neonatal... |
OMIM:300896 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebral atrophy, Ataxia, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis |
OMIM:615398 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Abnormal periventricular white matter morphology, Gait disturbance, Ventriculomegaly, A... |
ORPHA:395 |
| Urban-Rogers-Meyer Syndrome |
|
Short stature, Hypoplasia of penis, Abnormality of the ureter |
ORPHA:3409 |
| Bardet-Biedl Syndrome 17 |
|
Renal cyst, Stage 5 chronic kidney disease |
OMIM:615994 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Attention deficit hyperactivity disorder |
ORPHA:261102 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Abnormal brainstem morphology, Hydrocephalus, Dandy-Walker malformation, Abnorm... |
ORPHA:163961 |
| Hemangioblastoma |
|
Neurogenic bladder, Hydrocephalus |
ORPHA:252054 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Ureteral agenesis |
OMIM:274210 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Type II lissencephaly, Polymicrogyria, Leukoencephalopathy, Elevated circulating creatine kinase ... |
OMIM:615181 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence |
ORPHA:99947 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
