Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
Schizencephaly |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly |
OMIM:269160 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Dilated third ventricle, Babinsk... |
ORPHA:363654 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... |
OMIM:614039 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... |
OMIM:610031 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Dilated third ventricle... |
OMIM:619725 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callos... |
OMIM:604213 |
Lissencephaly 3 |
|
Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Cerebellar vermi... |
OMIM:611603 |
Band Heterotopia |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Spasticity, Subcortical band heterotopia, Agenes... |
OMIM:600348 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... |
OMIM:608716 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:171703 |
Lissencephaly 4 |
|
Hypertonia, Babinski sign, Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified... |
OMIM:614019 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Oromotor apraxia, Hemiparesis,... |
ORPHA:300573 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal ce... |
ORPHA:101029 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dolichocephaly, Orbital craniosynostosis, Cerebellar hypoplasia, Frontal bossing, ... |
ORPHA:1538 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Megalencephaly, Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615938 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Progressiv... |
ORPHA:401820 |
Masa Syndrome |
|
Hemiplegia/hemiparesis, Agenesis of corpus callosum, Ventriculomegaly, Spastic paraplegia |
ORPHA:2466 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Hydrocephalus, Ataxia, Microcephaly, Cortical dysplasia, Ventriculomegaly, Abno... |
OMIM:618709 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Megalencephaly, Autosomal Dominant |
|
Megalencephaly, Hydrocephalus |
OMIM:155350 |
Corpus Callosum, Agenesis Of |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:217990 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalence... |
OMIM:615937 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Tremor, Lateral ventricle... |
ORPHA:306669 |
Hydrocephalus With Cerebellar Agenesis |
|
Cerebellar agenesis, Hydrocephalus |
OMIM:307010 |
Caudal Duplication |
|
Myelomeningocele, Renal hypoplasia/aplasia, Abnormal penis morphology, Ureteral duplication, Spin... |
ORPHA:1756 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Hydrocephalus, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Hand tremor, Aplasia/Hypoplasia of the cerebellar vermis, Spastic dysa... |
ORPHA:401830 |
Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Thick cerebra... |
ORPHA:101071 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Cerebellar hypoplasia, S... |
ORPHA:2703 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Abnormal basal ganglia morphology, Increas... |
ORPHA:255182 |
Ventriculomegaly And Arthrogryposis |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:619501 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Agenesis of cerebellar vermis, Partial a... |
OMIM:220200 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Urinary urgency, Spinal cord lesion |
ORPHA:320355 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Cerebral atrophy, Dilated third ventricle, Limb hypertonia, Partial agenesis of th... |
OMIM:617296 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
Masa Syndrome |
|
Hydrocephalus, Microcephaly, Spastic paraplegia, Paraplegia, Ventriculomegaly, Lower limb spastic... |
OMIM:303350 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Syringomyelia, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
OMIM:613735 |
Papilloma Of Choroid Plexus |
|
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Choroid plexus papilloma |
ORPHA:2807 |
Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
Urofacial Syndrome 1 |
|
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, V... |
OMIM:617862 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Myoclonus, Microcephaly, Hypoplasia of the pons, Agenesis of corpus ca... |
OMIM:617669 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Spasticity, Simplified gyral pattern, Micr... |
OMIM:617090 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency |
OMIM:615993 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum |
ORPHA:85334 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia, Hemiplegia/hemiparesis, Cerebral calcification, Cerebral palsy |
ORPHA:99966 |
Lissencephaly, X-Linked, 1 |
|
Agyria, Pachygyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300067 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Cerebral atrophy, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, S... |
OMIM:618492 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... |
ORPHA:250972 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Urinary urgency, Spinal cord lesion |
ORPHA:171612 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypertonia, Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Spasti... |
OMIM:619302 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Leukoencephalopathy, Ataxia, Progressive leukoencephalopathy, Tremor, Spasticity, Apraxia, Perive... |
OMIM:615889 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum, Arrhinencephaly |
OMIM:300073 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... |
OMIM:304100 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum, Ventricul... |
ORPHA:85179 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
OMIM:300864 |
Syringomyelia, Noncommunicating Isolated |
|
Syringomyelia, Urinary incontinence |
OMIM:186700 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Cerebral atrophy, Dilated third ventricle, Microcephaly, Corpus callosum atr... |
OMIM:619244 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased CSF lactate, Cerebral atrophy, Basal ganglia cysts, Microcephaly, Frontal bossing, Chor... |
OMIM:312170 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyria, Primary microcephaly, Spa... |
ORPHA:300570 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Craniosynostosis, Microcephaly, Arrhinencephaly, Agenesis of corpus callosum, Cere... |
ORPHA:1528 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Spina bifida occulta, Ureteral atresia, Hydronephrosis |
OMIM:183802 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Basal ganglia necrosis, Ataxia, Increased ... |
ORPHA:79243 |
Microphthalmia-Brain Atrophy Syndrome |
|
Microcephaly, Corpus callosum atrophy, Tongue thrusting, Lateral ventricle dilatation, Diffuse ce... |
ORPHA:77299 |
9Q21.13 Microdeletion Syndrome |
|
Syringomyelia, Hydronephrosis |
ORPHA:531151 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Partial agenesis of the corpus callosum |
OMIM:233810 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Malan Overgrowth Syndrome |
|
Hypoplasia of the brainstem, Plagiocephaly, Hypoplasia of the corpus callosum, Frontal bossing, L... |
ORPHA:420179 |
Frontal Encephalocele |
|
Hydrocephalus, Calvarial skull defect, Dolichocephaly, Cerebral calcification, Encephalocele, Spi... |
ORPHA:1931 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis |
OMIM:274265 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein, Episodic ataxia |
ORPHA:251912 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Urinary urgency, Spinal cord lesion, Urinary incontinence |
ORPHA:100989 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... |
OMIM:191800 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Craniosynostosis, Myoclonus, Hypoplasia of the corpus callosum, Lateral ventricle dil... |
ORPHA:284417 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
16P13.2 Microdeletion Syndrome |
|
Plagiocephaly, Hydrocephalus, Dilated third ventricle, Microcephaly, Hypoplasia of the corpus cal... |
ORPHA:500055 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Leukoencephalopathy, Ataxia, Cerebral calcification, Abnormal pyramidal sign, Tremor,... |
OMIM:614561 |
Developmental And Epileptic Encephalopathy 88 |
|
Partial agenesis of the corpus callosum, Progressive microcephaly, Hypoplasia of the pons, Inferi... |
OMIM:618959 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia, Agenesis of corpus callosum |
OMIM:610245 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Leukoencephalopathy, Babinski sign, Spastic paraplegia, Tremor, Abnormal cerebral white matter mo... |
OMIM:300660 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Leukoencephalopathy, Cerebral atrophy, Oculogyric crisis, Microcephaly, Chorea,... |
ORPHA:178469 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum |
OMIM:616681 |
Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Cerebel... |
OMIM:218670 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Leg dystonia, Increased CSF lactate, Cerebral atrophy, Ankle clonus, Limb hypertonia, Babinski si... |
ORPHA:565624 |
Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Oculogyric crisis, Microcephaly, Hypoplasia of the corpus callosum, Lateral ven... |
ORPHA:208447 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Cerebral calcification, Myoclonus, Microcephaly, Frontal bossing, Spasticity, Vent... |
OMIM:617281 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... |
ORPHA:453521 |
Bowen Syndrome Of Multiple Malformations |
|
Agenesis of corpus callosum |
OMIM:211200 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Hydrocephalus, Microcephaly, Tremor, Spastic tetraparesis, Simplified gyral pat... |
OMIM:619470 |
Familial Congenital Mirror Movements |
|
Clumsiness, Poor fine motor coordination, Morphological abnormality of the corticospinal tract, H... |
ORPHA:238722 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Pachygyria, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short corpus callos... |
ORPHA:255138 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... |
ORPHA:79326 |
Cach Syndrome |
|
Dysgyria, Cerebral atrophy, Limb ataxia, Dysmetria, Spastic diplegia, Microcephaly, Primary ameno... |
ORPHA:135 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Hydrocephalus, Unilambdoid synostosis, Hypoplasia of the corpus callosum, Ventricu... |
OMIM:618577 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Gómez-López-Hernández Syndrome |
|
Ataxia, Hydrocephalus, Cerebellar vermis hypoplasia, Brachycephaly, Midface retrusion, Turricephaly |
ORPHA:1532 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Spastic paraplegia, Corticospinal t... |
OMIM:307000 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Brachyturricephaly, Hypoplasia of the corpus callosum, Frontal bossing, Ventriculo... |
OMIM:218350 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Urinary urgency, Spinal cord lesion |
ORPHA:100999 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Ataxia, Cerebral atrophy, Abnormality of the cerebrospinal fluid, Resting tremor, Dilated third v... |
ORPHA:314404 |
Kleeblattschaedel |
|
Hydrocephalus, Cloverleaf skull, Craniosynostosis |
OMIM:148800 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Limb hypertonia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Progressive spastic pa... |
ORPHA:401815 |
Distal Tetrasomy 15Q |
|
Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... |
ORPHA:314588 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Ataxia, Poor gross motor coordination, Poor fine motor coordination, Microcephaly, Partial agenes... |
OMIM:245349 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation, Hypoplasia of the corpu... |
ORPHA:262767 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619466 |
Lissencephaly 5 |
|
Leukoencephalopathy, Hydrocephalus, Hypoplasia of the corpus callosum, Spastic paraplegia, Abnorm... |
OMIM:615191 |
Gaba-Transaminase Deficiency |
|
Cerebellar hypoplasia, Agenesis of corpus callosum |
OMIM:613163 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Cerebral atrophy, Microcephaly, Abnormal pyramidal sign, Babinski sign, Hypoplasia... |
OMIM:615599 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum |
OMIM:225040 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:612948 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Developmental And Epileptic Encephalopathy 97 |
|
Stereotypical hand wringing, Tremor, Ventriculomegaly |
OMIM:619561 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Congenital Hydrocephalus |
|
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Frontal bossing, Lissencephaly,... |
ORPHA:2185 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Chiari Malformation Type I |
|
Syringomyelia, Urinary incontinence |
OMIM:118420 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Spina bifida occulta, Flat occiput,... |
OMIM:618736 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Frontal cortical atrophy, Myoclonus, Ventriculomegaly, Limb tremor, Brachycephaly |
OMIM:300699 |
12Q14 Microdeletion Syndrome |
|
Syringomyelia, Renal hypoplasia, Horseshoe kidney, Ectopic kidney |
ORPHA:94063 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Agenesis of corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum |
ORPHA:166024 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly, Brachycephaly |
ORPHA:85290 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency |
ORPHA:1909 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus callo... |
OMIM:619301 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Hypogonadism |
OMIM:312910 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Holoprosencephaly, Absent septum pell... |
ORPHA:2182 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy |
ORPHA:3033 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Dolichocephaly, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Leukoencephalopathy, Ataxia, Babinski sign, Tremor, Spasticity |
OMIM:611105 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Alobar holoprosencephaly, Dolichocephaly, Ventriculomegaly, Brachycephaly, Agenesi... |
OMIM:615433 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Craniosynostosis 6 |
|
Brachycephaly, Plagiocephaly, Craniosynostosis, Microcephaly, Spina bifida occulta, Turricephaly,... |
OMIM:616602 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Agenesis of corpus callosum |
OMIM:619548 |
3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1621 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:274270 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Secondary Syringomyelia |
|
Dysuria, Syringomyelia, Hyperintensity of MRI T2 signal of the spinal cord |
ORPHA:99857 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Leukoencephalopathy, Ataxia, Cerebral atrophy, Dysmetria, Limb hypertonia, Dilated fourth ventric... |
ORPHA:572798 |
Central Neurocytoma |
|
Hydrocephalus, Ataxia, Cerebral calcification, Babinski sign, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Hypertonia, Myoclonus, Microcephaly, Dilated fourth ventricle, Cerebellar hypoplasia, Lateral ven... |
ORPHA:3078 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the pons, Global brain atrophy |
OMIM:618276 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Poor gross motor coordination, Cerebral palsy, Hypoplasia of the corpus callosum, Abnormal caudat... |
ORPHA:2148 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Fried Syndrome |
|
Cerebral calcification, Spastic diplegia, Hydrocephalus, Thickened calvaria |
ORPHA:85335 |
Thymic Aplasia With Fetal Death |
|
Renal agenesis, Ureteral agenesis |
OMIM:274210 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Microcephaly, Hypoplasia of the corpus callosum, Abnormal globus pallidus morpholo... |
OMIM:618603 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Cerebral atrophy, Abnormal pyramidal sign, Babinski sign, Hypoplasia of the corpus... |
ORPHA:397951 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal basal ganglia morphology, Colpocephaly, Open operculum, Dilated third ventricle, Cerebel... |
ORPHA:397715 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Type... |
OMIM:613153 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Microcephaly, Frequent falls, Tremor, Abnormal cerebral white m... |
OMIM:607317 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Split Cord Malformation Type I |
|
Diastomatomyelia |
ORPHA:1671 |
Primary Hyperoxaluria Type 2 |
|
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... |
ORPHA:93599 |
Fanconi Anemia, Complementation Group R |
|
Microcephaly, Hydrocephalus |
OMIM:617244 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Hydranencephaly, Agenesis o... |
OMIM:225790 |
Neurocutaneous Melanocytosis |
|
Syringomyelia, Renal hypoplasia/aplasia, Meningocele |
ORPHA:2481 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... |
ORPHA:2704 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Clumsiness, Global brain atrophy |
ORPHA:324422 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Abnormality of the anterior commissure, Hemiparesis, Fusio... |
OMIM:617542 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Parietal cortical atrophy, Microcephaly, Frontal cortical atrophy, Agenesis of corpus callosum |
OMIM:618766 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Increased CSF lactate, Agenesis of corpus callosum, Choreoathetosis, Spasticity, Spastic tetraple... |
OMIM:618238 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria, Hydronephrosis |
OMIM:278300 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Hemiplegia/hemiparesis, Aqueductal stenosis, Craniosynostosis, Microcephaly, Turricephaly, Agenes... |
ORPHA:1496 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Urinary urgency, Spinal cord lesion, Urinary incontinence |
ORPHA:100993 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Microcephaly, Ventriculomegaly, Pachygyria, Agenesis of corpus c... |
ORPHA:2512 |
Holoprosencephaly 11 |
|
Microcephaly, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:614226 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis |
ORPHA:195 |
Foix-Alajouanine Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Myelopathy, Myelitis, Functional abnormality ... |
ORPHA:79093 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Microcephaly, Cerebellar hypoplasia, Neonatal death, Agyria, Lissencephaly, Agenesis of corpus ca... |
OMIM:616342 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, Abnormal cerebral white ma... |
ORPHA:352682 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebral hypoplasia, Gliosis, Microcephaly, Cerebellar hypoplasia, Neuronal loss in the cerebral ... |
ORPHA:168486 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dil... |
ORPHA:544488 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Ankle clonus, Knee clonus, Babinski sign, Hypoplasia of the co... |
OMIM:604360 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Motor stereotypy, Plagiocephaly, Ataxia, Dolichocephaly, Cavum septum pellucidum, Frontal bossing... |
ORPHA:457279 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Microhydranencephaly |
|
Microcephaly, Cerebellar hypoplasia, Athetosis, Ventriculomegaly, Spastic tetraplegia, Pachygyria... |
OMIM:605013 |
Slc35A2-Cdg |
|
Cerebral atrophy, Craniosynostosis, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus ca... |
ORPHA:356961 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease |
OMIM:610805 |
Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Microcephaly, Semilo... |
OMIM:609637 |
Pettigrew Syndrome |
|
Hydrocephalus, Cerebral calcification, Choreoathetosis, Gait ataxia, Spasticity, Ventriculomegaly... |
OMIM:304340 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Syringomyelia, Multicystic kidney dysplasia |
ORPHA:261197 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Craniosynostosis, Dolichocephaly, Frontal bossing, Ventriculomegaly, Scaphocephaly... |
OMIM:175700 |
Glycine Encephalopathy |
|
Agenesis of corpus callosum |
OMIM:605899 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Increased CSF lactate, Cerebral cortical atrophy, Hypoplasia of the optic tract, Myoclonus, Vocal... |
ORPHA:500144 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... |
OMIM:615768 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Foxg1 Syndrome |
|
Motor stereotypy, Myoclonus, Hyperkinetic movements, Stereotypical hand wringing, Hypoplasia of t... |
ORPHA:561854 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, Type II lissencephaly, Ven... |
OMIM:615287 |
Gabriele-De Vries Syndrome |
|
Tremor, Dystonia, Ventriculomegaly, Abnormal cerebral white matter morphology |
OMIM:617557 |
Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum, Sagittal craniosynostosis, Right unicoronal synostosis, ... |
OMIM:615314 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal in... |
OMIM:619902 |
Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Cerebral atrophy, Spastic diplegia, Microcephaly, Cerebellar hypoplas... |
OMIM:600118 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... |
ORPHA:488627 |
15Q Overgrowth Syndrome |
|
Nephroblastoma, Abnormal renal morphology, Horseshoe kidney, Ureterovesical stenosis, Hydronephro... |
ORPHA:314585 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal agenesis, Horseshoe kidney, Renal insufficiency, Ectopic kidney, Syringomyelia, Vesicourete... |
ORPHA:140952 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dolichocephaly, Dilated fourth ventricle, Truncal ataxia, Partial absence of cereb... |
OMIM:220220 |
Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Cerebral cortical atrophy, Myoclonus, Rigidity, Parkinsonism, Weakne... |
ORPHA:97355 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Hypoplasia of the pons, Type II lissencephaly, Ventriculomegaly, Dandy-Walker malf... |
OMIM:613154 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Syringomyelia, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:2508 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Midface retrusion, Craniosynostosis |
OMIM:612247 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... |
OMIM:614723 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Hydrocephalus, Agenesis of corpus callosum, Craniosynostosis |
ORPHA:380 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
Microcephaly, Amish Type |
|
Partial agenesis of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia |
OMIM:607196 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Paraparesis, Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Parkinsonism, Hypoplasi... |
ORPHA:2822 |
Pontocerebellar Hypoplasia, Type 9 |
|
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Spa... |
OMIM:615809 |
Acalvaria |
|
Hydrocephalus, Calvarial skull defect, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, S... |
ORPHA:945 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tremor, Ventriculomegaly, Increased CSF protein, Limb tremor, Brachycephaly, Agenesis of corpus c... |
OMIM:218000 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Ataxia, Rigidity, Cerebellar hypoplasia, Abnormal cerebral white matter morphology... |
OMIM:618476 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy |
OMIM:617056 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619528 |
Hemimegalencephaly |
|
Pachygyria, Myoclonus, Hemiparesis, Polymicrogyria, Ventriculomegaly, Hyperintensity of cerebral ... |
ORPHA:99802 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Microlissencephaly, Agenesis of corpus callosum, Agenesis of cerebellar vermis, Hypoplasia of the... |
OMIM:601160 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... |
ORPHA:93110 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Cavum septum pellucidum, Dilated third ventricle, Microcephaly, Hypoplasia of t... |
ORPHA:464738 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Partial agenesis of the corpus callosum, Primary microcephal... |
OMIM:604804 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Lissencephaly 6 With Microcephaly |
|
Limb hypertonia, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Partial agenesi... |
OMIM:616212 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Gait ataxia, Cerebellar hypoplasia, Hypoplasia of the corp... |
ORPHA:488635 |
Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility |
ORPHA:1646 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Hydrocephalus, Dolichocephaly, Type II lissencephaly, Ventriculomegaly, Brachyceph... |
ORPHA:272 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinski sign, Parkinsonism... |
ORPHA:521406 |
Atresia Of Urethra |
|
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... |
ORPHA:105 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Thin corpus callosum, Opisthotonus, Parkinsonism, Partial agenesis of the corpus callosum, Apraxi... |
OMIM:619653 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Cerebral atrophy, Cerebral calcification, Ventriculomegaly, Spasticity, Progressiv... |
OMIM:610333 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal cyst, Renal hypoplasia |
OMIM:228940 |
Melanosis, Neurocutaneous |
|
Syringomyelia |
OMIM:249400 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly, Progressive spastic paraplegia, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:521390 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polyuria, Hydronephrosis |
OMIM:304900 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
3-Methylglutaconic Aciduria, Type Viii |
|
Hypertonia, Increased CSF lactate, Cerebral atrophy, Hypoplasia of the corpus callosum, Tremor, V... |
OMIM:617248 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Alexander Disease |
|
Hydrocephalus, Ataxia, Dysmetria, Babinski sign, Increased CSF protein, Spasticity |
OMIM:203450 |
1Q21.1 Microduplication Syndrome |
|
Frontal bossing, Hydrocephalus, Hypertonia |
ORPHA:250994 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Plagiocephaly, Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Gait ataxia, Ventr... |
OMIM:616362 |
Hsd10 Disease |
|
Ataxia, Focal white matter lesions, Spastic paraparesis, Myoclonus, Microcephaly, Rigidity, Tremo... |
ORPHA:391417 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Cerebral atrophy, Microcephaly, Abnormal pyramidal sign, Abnormality of extrapyram... |
OMIM:300884 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Distal Monosomy 10Q |
|
Ataxia, Poor fine motor coordination, Craniosynostosis, Cavum septum pellucidum, Microcephaly, Ce... |
ORPHA:96148 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Baraitser-Winter Syndrome 2 |
|
Lissencephaly, Ventriculomegaly, Pachygyria, Secondary microcephaly, Trigonocephaly, Agenesis of ... |
OMIM:614583 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis |
ORPHA:1046 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Agenesis of corpus callosum |
OMIM:610498 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Morning myoclonic jerks, Microcephaly, Diffuse cerebral atrophy, Flat occiput, Bra... |
ORPHA:2898 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Dysmetria, Myoclonus, Agenesis of corpus callosum, Dystonia |
OMIM:250620 |
Non-Syndromic Anorectal Malformation |
|
Myelomeningocele, Tethered cord, Hypospadias, Persistent cloaca, Rectourethral fistula, Syringomy... |
ORPHA:557 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Hypospadias, Syringomyelia |
ORPHA:436003 |
Fanconi Anemia, Complementation Group O |
|
Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease |
OMIM:613390 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Tremor, Substantia nigra gliosis, Dystonia |
OMIM:600116 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Achondroplasia |
|
Megalencephaly, Frontal bossing, Hydrocephalus, Midface retrusion |
OMIM:100800 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the ... |
OMIM:164180 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Abnormal pyramida... |
ORPHA:370959 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicrogyria, Lissencephaly, ... |
OMIM:614833 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis |
OMIM:618161 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Cerebellar hypoplasia, Frontal bossing, Tremor, Ventriculomegaly, Agenesis of c... |
ORPHA:238750 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... |
ORPHA:79262 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Renal cyst, Nephropathy, Hematuria |
OMIM:611773 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Split Cord Malformation |
|
Myelomeningocele, Tethered cord, Cervical spina bifida, Hypospadias, Spinal cord tumor, Renal dup... |
ORPHA:573278 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... |
ORPHA:1475 |
Neuronal Intranuclear Inclusion Disease |
|
Leukoencephalopathy, Ataxia, CSF pleocytosis, Rigidity, Tremor, Ventriculomegaly, Increased CSF p... |
OMIM:603472 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syringomyelia |
ORPHA:404451 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Oculomotor apraxia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Multicystic kidney dysplasia, Ab... |
ORPHA:2973 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Thin corpus callosum, Dystonia, Hypoplasia of the brainstem |
OMIM:619651 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Bor Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... |
ORPHA:107 |
6Q25 Microdeletion Syndrome |
|
Microcephaly, Plagiocephaly, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:251056 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Syringomyelia, Neurogenic bladder, Meningocele |
ORPHA:1136 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Increased CSF lactate, Microcephaly, Abnormal pyramidal sign, Tremor, Abnormal cerebral w... |
OMIM:614947 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Spinal cord lesion |
ORPHA:171863 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Syringomyelia |
ORPHA:137754 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Craniosynostosis, Dolichocephaly, Hypoplasia of the corpus callosum, Frontal bossing |
ORPHA:1516 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atrophy, Abnormality of extrapyramidal... |
OMIM:615362 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum |
ORPHA:2101 |
Developmental And Epileptic Encephalopathy 65 |
|
Plagiocephaly, Cerebral atrophy, Microcephaly, Ventriculomegaly, Spasticity |
OMIM:618008 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Hydronephrosis, Megacystis |
OMIM:619362 |
Birt-Hogg-Dube Syndrome |
|
Renal cell carcinoma, Renal cyst, Renal neoplasm |
OMIM:135150 |
Acromelic Frontonasal Dysostosis |
|
Choroid plexus cyst, Hypoplasia of the corpus callosum, Hypopituitarism, Ventriculomegaly, Enceph... |
OMIM:603671 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis, Urethral valve |
OMIM:100100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Megacystis, Hydroureter, Hydronephrosis |
OMIM:619431 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of bladder morphology, Syringomyelia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:453499 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, Spasticity, Trigono... |
OMIM:300983 |
Nasu-Hakola Disease |
|
Hydrocephalus, Cerebral cortical atrophy, Cerebral calcification, Chorea, Spasticity, Ventriculom... |
ORPHA:2770 |
Myopathy, Congenital, Progressive, With Scoliosis |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Sporadic Fetal Brain Disruption Sequence |
|
Plagiocephaly, Cerebral cortical atrophy, Microcephaly, Prominent occiput, Spasticity |
ORPHA:1665 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Brachycephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Amish Lethal Microcephaly |
|
Limb hypertonia, Microcephaly, Cerebellar vermis hypoplasia, Lissencephaly, Ventriculomegaly, Spi... |
ORPHA:99742 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Microcephaly, Midface retrusion, Polymicrogyria, Cerebellar hypoplasia, Colpocephaly |
OMIM:618731 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:182230 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Syringomyelia, Abnormal renal morphology |
ORPHA:477817 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Dolichocephaly, Cerebral calcification, 4-layered lissencephaly, Prominent occiput, Hypoplasia of... |
ORPHA:89844 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Methylmalonic Acidemia With Homocystinuria |
|
Microcephaly, Hydrocephalus |
ORPHA:26 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism |
ORPHA:141333 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, V... |
OMIM:619074 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Polymicrogyria, Partial agenesis of the corpus callosum, Focal cortical dysplas... |
ORPHA:101030 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, D... |
OMIM:615924 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Spondylocostal Dysostosis 5 |
|
Syringomyelia |
OMIM:122600 |
Imagawa-Matsumoto Syndrome |
|
Agenesis of corpus callosum, Polymicrogyria |
OMIM:618786 |
Lissencephaly, X-Linked, 2 |
|
Pachygyria, Gliosis, Agenesis of corpus callosum, Lissencephaly |
OMIM:300215 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Microcephaly, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:610680 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Spinal cord lesion |
ORPHA:171617 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia |
OMIM:236500 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
|
Syringomyelia, Tethered cord |
ORPHA:404473 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cerebral atrophy, Intention tr... |
ORPHA:98762 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Calvarial skull defect, Coronal craniosynostosis, Agenesis of cerebellar vermis, Frontal bossing,... |
ORPHA:228390 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Microcephaly, Frontal bossing, Tremor, Choreoath... |
ORPHA:765 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Chordee, Syringomyelia, Tethered cord |
OMIM:616728 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Horseshoe kidney, Dilatation of the renal pelvis, Axial malrotation of the ... |
OMIM:274000 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts |
ORPHA:1166 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy... |
ORPHA:3467 |
Developmental And Epileptic Encephalopathy 1 |
|
Hypertonia, Plagiocephaly, Erratic myoclonus, Microcephaly, Abnormal pyramidal sign, Choreoatheto... |
OMIM:308350 |
Neuroferritinopathy |
|
Iron accumulation in substantia nigra, Babinski sign, Chorea, Abnormal basal ganglia morphology, ... |
ORPHA:157846 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... |
OMIM:263200 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries, Syringomyelia |
OMIM:616831 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:615286 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum |
OMIM:252650 |
Verheij Syndrome |
|
Renal agenesis, Renal cyst, Renal hypoplasia |
OMIM:615583 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum |
OMIM:601016 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Leukoencephalopathy, Hypergonadotropic hypogonadism, Intention tremor, Head tremor, ... |
OMIM:613724 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Agenesis of corpus callosum |
OMIM:600638 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Fetal megacystis, Hydroureter |
OMIM:249210 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria |
OMIM:610205 |
Aicardi Syndrome |
|
Choroid plexus cyst, Cavum septum pellucidum, Dilated third ventricle, Microcephaly, Polymicrogyr... |
OMIM:304050 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Pri... |
OMIM:616819 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Type II lissencephaly, Agyria, Lissencephaly,... |
OMIM:615249 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality of the urethra, Renal dysplas... |
ORPHA:2842 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Cerebral calcification, Myoclonus, Microcephaly, Tremor, Choreoathetosis, Dystonia |
OMIM:261630 |
Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Spinal dysraphism, Hydronephrosis |
ORPHA:1926 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Microcephaly, Cr... |
OMIM:617284 |
Isochromosomy Yp |
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Azoospermia, Male infertility |
ORPHA:98797 |
4H Leukodystrophy |
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Striatal T2 hyperintensity, Ataxia, Decreased response to growth hormone stimulation test, Dysmet... |
ORPHA:289494 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Subependymal nodules, Ataxia, Abnormal basal ganglia morphology, Pallidal degeneration, Open oper... |
ORPHA:25 |
Nephronophthisis 4 |
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Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
Arnold-Chiari Malformation Type I |
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Syringomyelia, Myelopathy, Urinary incontinence |
ORPHA:268882 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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Progressive spasticity, Microcephaly, Brachycephaly, Hypogonadism |
ORPHA:2528 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Ataxia, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth ventricle, Inferio... |
OMIM:614831 |
Joubert Syndrome With Renal Defect |
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Hydrocephalus, Ataxia, Polymicrogyria, Tremor, Cerebellar vermis hypoplasia, Oculomotor apraxia, ... |
ORPHA:220497 |
Tetraploidy |
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Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:3305 |
Basal Ganglia Calcification, Idiopathic, 1 |
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Bradykinesia, Basal ganglia calcification, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinson... |
OMIM:213600 |
Prune Belly Syndrome |
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Urogenital sinus anomaly, Abnormality of the ureter, Hydroureter, Multicystic kidney dysplasia, R... |
ORPHA:2970 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Increased CSF lactate, Progressive cerebellar ataxia, Focal T2 hypointense basal ganglia lesion, ... |
ORPHA:139485 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Cerebral hypoplasia, Abnormal basal ganglia morphology, Small basal ganglia, Microcephaly, Cerebe... |
ORPHA:86822 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... |
ORPHA:251282 |
Nephronophthisis 1 |
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Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Yuan-Harel-Lupski Syndrome |
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Syringomyelia |
OMIM:616652 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:614924 |
Cog5-Cdg |
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Microcephaly, Truncal ataxia, Cerebral white matter atrophy, Lateral ventricle dilatation, Diffus... |
ORPHA:263487 |
Ritscher-Schinzel Syndrome 4 |
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Motor stereotypy, Plagiocephaly, Ataxia, Cerebellar hypoplasia, Chorea, Athetosis, Mild fetal ven... |
OMIM:619435 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... |
ORPHA:293725 |
Childhood-Onset Spasticity With Hyperglycinemia |
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Spinal cord lesion |
ORPHA:401866 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
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Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Glut1 Deficiency Syndrome 2 |
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Ataxia, Increased CSF lactate, Cerebral atrophy, Hypoglycorrhachia, Tremor, Choreoathetosis, Dyst... |
OMIM:612126 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Communicating hydrocephalus, Frontal bossing, Lissencephaly, Ventriculomegaly, Simplified gyral p... |
OMIM:615219 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
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Thin corpus callosum, Microcephaly, Partial agenesis of the corpus callosum |
OMIM:619517 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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