Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... |
ORPHA:2838 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Babinski sign, Scissor gait, Bradykinesia, Cogwheel rigidity, Resting tr... |
ORPHA:363654 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
Vesicoureteral Reflux 3 |
|
Hydronephrosis, Hydroureter, Vesicoureteral reflux |
OMIM:613674 |
Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Congenital Primary Megaureter |
|
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... |
ORPHA:617 |
Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Cerebellar hypoplasia, Hypoplasia of the co... |
OMIM:610031 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hydrocephalu... |
OMIM:604213 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
Lissencephaly 3 |
|
Lissencephaly, Ventriculomegaly, Spastic tetraplegia, Pachygyria, Ataxia, Cerebellar vermis hypop... |
OMIM:611603 |
Lissencephaly 4 |
|
Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Micr... |
OMIM:614019 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corpus callosum, Co... |
OMIM:614039 |
Band Heterotopia |
|
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Spasticity, Agenes... |
OMIM:600348 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
ORPHA:171703 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Flat occiput, Bicoronal synostosis, Brachycephaly, Delayed closure of ... |
OMIM:618736 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Aplasia/Hypoplasia of the cerebe... |
ORPHA:401820 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Frontal bossing, Orbital craniosynostosis, Hydrocephalus, Cerebellar h... |
ORPHA:1538 |
Polymicrogyria Due To Tubb2B Mutation |
|
Oromotor apraxia, Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis ... |
ORPHA:300573 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia... |
ORPHA:101029 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Polymicrogyria, Hydrocephalus, Megalencephaly, Ventriculomegaly |
OMIM:615938 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar verm... |
ORPHA:401830 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Simplified gyral pattern, Cerebellar hypoplasia, Hypoplasia of the corpus ... |
OMIM:608716 |
Masa Syndrome |
|
Spastic paraplegia, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2466 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Megalencephaly |
OMIM:155350 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal corpus callosum morphology, Ventriculomegaly, Stereotypy, Ataxia, Hydrocephalus, Cortica... |
OMIM:618709 |
Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hemimegalencephaly, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus cal... |
OMIM:615937 |
Hydrocephalus With Cerebellar Agenesis |
|
Cerebellar agenesis, Hydrocephalus |
OMIM:307010 |
Caudal Duplication |
|
Ureteral duplication, Abnormal penis morphology, Myelomeningocele, Spinal cord lesion, Renal hypo... |
ORPHA:1756 |
Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
Holoprosencephaly 5 |
|
Lobar holoprosencephaly, Holoprosencephaly, Trigonocephaly, Syntelencephaly, Alobar holoprosencep... |
OMIM:609637 |
Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus |
OMIM:123155 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Plagiocephaly, Limb hypertonia,... |
OMIM:617296 |
Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Hemiparesis, Thick cerebral cortex, Dilation of lateral ventricles, Cortical... |
ORPHA:101071 |
Polyrrhinia |
|
Dilation of lateral ventricles, Abnormal third ventricle morphology |
ORPHA:141091 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Spasticity, Increased CSF protein |
OMIM:203450 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Tremor, Dilation of later... |
ORPHA:306669 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Periventricular cysts, Abnormal CSF pyruvate family amino acid concentration, Abnormal corpus cal... |
ORPHA:255182 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of... |
OMIM:300864 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Subcortical cerebral atrophy, Hydrocephalus, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... |
ORPHA:2703 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Spastic diplegia, Dilation of lateral ventricles, Hypoplasia of th... |
OMIM:619420 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:619501 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Hydronephrosis, Syringomyelia, Vesicoureteral reflux |
OMIM:613735 |
Dandy-Walker Syndrome |
|
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... |
OMIM:220200 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Spinal cord lesion, Urinary urgency |
ORPHA:320355 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Hypoplasia of the corpus callosu... |
ORPHA:401840 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis |
ORPHA:2807 |
Hinman Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... |
ORPHA:84085 |
Masa Syndrome |
|
Paraplegia, Lower limb spasticity, Ventriculomegaly, Hydrocephalus, Spastic paraplegia, Agenesis ... |
OMIM:303350 |
Ureterocele |
|
Ureterocele, Duplicated collecting system |
OMIM:191650 |
Urofacial Syndrome 1 |
|
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... |
OMIM:236730 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Stereotypy, Ventriculomegaly, Ataxia, Progressive microcephaly, Tremor, Hypoplasia of the corpus ... |
OMIM:617862 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Microlissencephaly, Simplified gyral pattern, Ventriculomegaly, Hypoplasia of the brainstem, Spas... |
OMIM:617090 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney |
OMIM:615993 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Leukoencephalopathy, Abnormal cerebral white matter morphology, Tremor, Diffuse ce... |
OMIM:300660 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum, Ce... |
ORPHA:85179 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum |
ORPHA:85334 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Ataxia, Hydrocephalus, Cerebral calcification, Hemiplegia/hemiparesis |
ORPHA:99966 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum |
OMIM:300073 |
Lissencephaly, X-Linked, 1 |
|
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Simplified gyral pattern, Absent septum pellucidum, Hypoplasia of the brainstem, Cerebral atrophy... |
OMIM:618492 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Familial Congenital Mirror Movements |
|
Clumsiness, Dysgenesis of the hippocampus, Cerebral palsy, Hypogonadotropic hypogonadism, Morphol... |
ORPHA:238722 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Spinal cord lesion, Urinary urgency |
ORPHA:171612 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Hypoplasia of the brainstem, Po... |
ORPHA:250972 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Hypoplasia of the pons, Myoclonus, Ventriculomegaly, Microcephaly, Spasticity, Agenesis of corpus... |
OMIM:617669 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Inferior vermis hypoplasia, Hydrocephalus, Cerebellar hy... |
OMIM:304100 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Syringomyelia, Noncommunicating Isolated |
|
Urinary incontinence, Syringomyelia |
OMIM:186700 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Leukoencephalopathy, Progressive leukoencephalopathy, Tremor, Ataxia, Periventricular leukomalaci... |
OMIM:615889 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Dandy-Walker malformation, Ventriculomegaly, Persistent open anterior fontanelle, Hypoplasia of t... |
ORPHA:262767 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Spasticit... |
OMIM:619517 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Leukoencephalopathy, Tremor, Ataxia, Spasticity, Ce... |
OMIM:614561 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Simplified gyral pa... |
OMIM:616051 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Septo-optic dysplasia, Craniosynostosis, Frontal bossing, Hydrocephalus, Cerebel... |
ORPHA:1528 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia, Hypertonia, Spasticity, Dilation of lateral ventricles, Hypoplasia of the... |
OMIM:618890 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia, Agenesis of corpus callosum |
OMIM:610245 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Syringomyelia |
ORPHA:531151 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Microphthalmia-Brain Atrophy Syndrome |
|
Tongue thrusting, Corpus callosum atrophy, Spasticity, Diffuse cerebral atrophy, Dilation of late... |
ORPHA:77299 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Hydronephrosis, Spina bifida occulta, Myelomeningocele, Ureteral atresia |
OMIM:183802 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Partial agenesis of the corpus callosum |
OMIM:233810 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Leukoencephalopathy, Tremor, Ataxia, Spasticity |
OMIM:611105 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Choreoathetosis, Episodic ataxia, Ventriculomegaly, Frontal bossing, Basal ganglia cysts, Increas... |
OMIM:312170 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
Mental Retardation, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Stereotypy, Cerebellar vermis hypoplasia, Polymicrogyria, Cerebellar hy... |
OMIM:617751 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebral white matter hypoplasia, Myoclonus, Craniosynostosis, Simplified gyral pattern, Primary ... |
ORPHA:284417 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis |
OMIM:274265 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Urinary incontinence, Spinal cord lesion, Urinary urgency |
ORPHA:100989 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Abnormal CSF pyruvate family ami... |
ORPHA:79243 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Spastic tetraplegia, Simplified gyral pattern, Hypertoni... |
OMIM:619302 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Plagiocephaly, Brachycephaly, Cerebral white matter atrophy, Ventriculom... |
ORPHA:500055 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... |
OMIM:191800 |
Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Myoclonus, Ventriculomegaly, Frontal bossing, Hydrocephalus, Spasticit... |
OMIM:617281 |
Developmental And Epileptic Encephalopathy 88 |
|
Partial agenesis of the corpus callosum, Progressive microcephaly, Hypoplasia of the pons, Inferi... |
OMIM:618959 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616681 |
Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Ventriculomegaly, Frontal bossi... |
OMIM:218350 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Dilation of lateral ventricles, Polymicrogyria |
OMIM:300982 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
Bowen Syndrome Of Multiple Malformations |
|
Agenesis of corpus callosum |
OMIM:211200 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dysgenesis of the hippocampus, Torticollis, Spastic ataxia, Stereotypy, Polymicrogyria, Cerebella... |
ORPHA:300570 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Corticospinal tract hypoplasia, Ventriculomegaly, Pachygyria, Short corpus... |
ORPHA:255138 |
Bilateral Generalized Polymicrogyria |
|
Diffuse white matter abnormalities, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyeli... |
ORPHA:208447 |
Frontal Encephalocele |
|
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral calcification, D... |
ORPHA:1931 |
Gómez-López-Hernández Syndrome |
|
Brachycephaly, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Turricephaly, Midface retrusion |
ORPHA:1532 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Absent septum pellucidum, Corticospinal tract hypoplasia, Hydrocephalus, Spasticity, Spastic para... |
OMIM:307000 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Babinski sign, Abnormality of the cerebrospinal fluid, Ataxia, Resting t... |
ORPHA:314404 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Malan Overgrowth Syndrome |
|
Plagiocephaly, Ventriculomegaly, Frontal bossing, Hypoplasia of the brainstem, Scaphocephaly, Epi... |
ORPHA:420179 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Oculomotor apraxia, Cereb... |
ORPHA:453521 |
Kleeblattschaedel |
|
Craniosynostosis, Hydrocephalus, Cloverleaf skull |
OMIM:148800 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Optic nerve hypoplasia, Absent septum pellucidum, Cerebellar hypoplasia, Lissenc... |
OMIM:218670 |
Alg2-Cdg |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... |
ORPHA:79326 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Cerebral atrophy, Chorea, Leukoencephalopathy, Abnormal cerebral white matter morphology, Stereot... |
ORPHA:178469 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum |
OMIM:616816 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Spinal cord lesion, Urinary urgency |
ORPHA:100999 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Brachycephaly, Unilambdoid synostosis, Ventriculomegaly, Hydrocephalus, Midface re... |
OMIM:618577 |
Cach Syndrome |
|
Secondary amenorrhea, Dysmetria, Dysgyria, Hemiparesis, Spastic diplegia, Primary amenorrhea, Pre... |
ORPHA:135 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Simplified gyral pattern, Stereotypy, Tremor, Periventricular white matter hyperintensities, Spas... |
OMIM:619470 |
Mental Retardation, Autosomal Dominant 22 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:612337 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Distal Tetrasomy 15Q |
|
Horseshoe kidney, Hydronephrosis, Syringomyelia, Polycystic kidney dysplasia, Dilatation of the r... |
ORPHA:314588 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Hypoplasia of the corpus callosum, Spasticity |
OMIM:616494 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Ventriculomegaly |
OMIM:619561 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly |
OMIM:619466 |
Craniosynostosis 6 |
|
Dandy-Walker malformation, Plagiocephaly, Brachycephaly, Craniosynostosis, Abnormal corpus callos... |
OMIM:616602 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum |
OMIM:225040 |
Chiari Malformation Type I |
|
Urinary incontinence, Syringomyelia |
OMIM:118420 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Developmental And Epileptic Encephalopathy 36 |
|
Abnormality of extrapyramidal motor function, Hydrocephalus, Cerebral atrophy, Abnormal pyramidal... |
OMIM:300884 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Lissencephaly 5 |
|
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopathy, Cerebellar v... |
OMIM:615191 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dandy-Walker malformation, Large fontanelles, Dilated fourth ventricle, Myoclonus, Small fontanel... |
ORPHA:3078 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:612948 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Limb hypertonia, Colpocephaly, Spastic gait, Lower limb spasticity, Cerebellar hypoplasia, Hypopl... |
ORPHA:401815 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Deep white matter hypodensities, Involuntary movements, Babinski sign, Limb hypertonia, Abnormal ... |
ORPHA:565624 |
12Q14 Microdeletion Syndrome |
|
Horseshoe kidney, Ectopic kidney, Renal hypoplasia, Syringomyelia |
ORPHA:94063 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Agyria, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:616342 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:166024 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Duplicated collecting system |
OMIM:617093 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Poor gross motor coordination, Trigonocephaly, Subependy... |
OMIM:245349 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Hemiplegia/hemiparesis, Absent septum pellucidum, Hydrocephalus, Spasticity, A... |
ORPHA:2182 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... |
OMIM:617542 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Frontal bossin... |
ORPHA:2185 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency, Nephropathy |
ORPHA:1909 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy |
ORPHA:3033 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Abnormal ce... |
OMIM:607317 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Frontal bossing, Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, ... |
OMIM:600721 |
Greig Cephalopolysyndactyly Syndrome |
|
Metopic synostosis, Trigonocephaly, Craniosynostosis, Ventriculomegaly, Frontal bossing, Scaphoce... |
OMIM:175700 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Agenesis of corpus callosum |
OMIM:619548 |
Spastic Paraparesis And Deafness |
|
Hypogonadism, Spastic paraparesis, Tremor |
OMIM:312910 |
Secondary Syringomyelia |
|
Dysuria, Hyperintensity of MRI T2 signal of the spinal cord, Syringomyelia |
ORPHA:99857 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Brachycephaly, Ventriculomegaly, Alobar holoprosencephaly, Dolichocephaly, Agenesi... |
OMIM:615433 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1621 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:613390 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... |
OMIM:619301 |
Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
Thymic Aplasia With Fetal Death |
|
Ureteral agenesis, Renal agenesis |
OMIM:274210 |
Fried Syndrome |
|
Thickened calvaria, Spastic diplegia, Hydrocephalus, Cerebral calcification |
ORPHA:85335 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus |
OMIM:617967 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney |
OMIM:613730 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Microcephaly, Cerebral atrophy |
OMIM:274270 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Abnormal globus pallidus morphology, Brachycephaly, Ventriculomegaly, Hypoplasia o... |
OMIM:618603 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Hydroc... |
OMIM:225790 |
Primary Hyperoxaluria Type 2 |
|
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... |
ORPHA:93599 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Microcephaly |
OMIM:617244 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Spastic gait, Lower... |
OMIM:604360 |
Foix-Alajouanine Syndrome |
|
Myelopathy, Urinary retention, Spinal cord lesion, Cervical myelopathy, Urinary incontinence, Hyp... |
ORPHA:79093 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Babinski sign, Hydrocephalus, Spasticity, Cerebral atrophy, Abnormal pyramidal sign, Secondary mi... |
ORPHA:397951 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Split Cord Malformation Type I |
|
Diastomatomyelia |
ORPHA:1671 |
Pettigrew Syndrome |
|
Dandy-Walker malformation, Choreoathetosis, Ventriculomegaly, Hydrocephalus, Spasticity, Cerebral... |
OMIM:304340 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Dandy-Walker malformation, Meningocele, Colpocephaly, Abnormal corpus ca... |
ORPHA:397715 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
Neurocutaneous Melanocytosis |
|
Meningocele, Renal hypoplasia/aplasia, Syringomyelia |
ORPHA:2481 |
Xanthinuria, Type I |
|
Xanthinuria, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis |
OMIM:278300 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Morning myoclonic jerks, Brachycephaly, Diffuse cerebral atrophy, Mi... |
ORPHA:2898 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Gliosis, Neuronal loss in the cerebral cortex, Pachygyria, Cerebellar hypoplasia, Cerebral hypopl... |
ORPHA:168486 |
Ochoa Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... |
ORPHA:2704 |
Alg13-Cdg |
|
Clumsiness, Global brain atrophy, Abnormal lateral ventricle morphology |
ORPHA:324422 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Craniosynostosis, Turricephaly, Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly, H... |
ORPHA:1496 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Microcephaly, Frontal cortical atrophy, Agenesis of corpus callosum, Parietal cortical atrophy |
OMIM:618766 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Subependymal cysts, Decreased CSF glutamine concentration, Dilation of lateral ve... |
OMIM:610015 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Choreoathetosis, Caudate atrophy, Spastic tetraplegia, Increased CSF lactate, Spasticity, Agenesi... |
OMIM:618238 |
Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Hypoplasia of the pons, Gait ataxia, Cerebellar vermis hypoplasia, Hyp... |
OMIM:618606 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Urinary incontinence, Spinal cord lesion, Urinary urgency |
ORPHA:100993 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Decreased CSF homovanillic aci... |
OMIM:605407 |
X-Linked Intellectual Disability, Wilson Type |
|
Dilation of lateral ventricles, Microcephaly, Brachycephaly |
ORPHA:85290 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney |
ORPHA:195 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... |
ORPHA:101110 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Micro... |
ORPHA:2512 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614830 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... |
ORPHA:544488 |
Holoprosencephaly 11 |
|
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:614226 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Hypogonadism, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Cerebellar hypopla... |
OMIM:615768 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Sporadic Fetal Brain Disruption Sequence |
|
Plagiocephaly, Spasticity, Prominent occiput, Cerebral cortical atrophy, Microcephaly |
ORPHA:1665 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Syringomyelia, Spina bifida, Myelomeningocele |
OMIM:207950 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements, Dolichocephaly |
OMIM:618425 |
Glycine Encephalopathy |
|
Agenesis of corpus callosum |
OMIM:605899 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Syringomyelia |
ORPHA:261197 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Ureteropelvic junction obstruction, Stage 5 chronic kidney disease, Vesicoureteral reflux |
OMIM:610805 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
Central Neurocytoma |
|
Babinski sign, Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification |
ORPHA:73256 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Microhydranencephaly |
|
Athetosis, Hydranencephaly, Spastic tetraplegia, Ventriculomegaly, Pachygyria, Hypoplasia of the ... |
OMIM:605013 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, D... |
OMIM:220220 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Poor gross motor coordination, Cerebral palsy, Cerebral white matter atrophy, Abnormal caudate nu... |
ORPHA:2148 |
Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Spastic diplegia, Cerebellar hypoplasia... |
OMIM:600118 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Horseshoe kidney, Renal agenesis, Syringomyelia, Vesicoureteral reflux, Ectopic kidney, Renal ins... |
ORPHA:140952 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Athetosis, Cerebral white matter hypoplasia, Limb hypertonia, Dilated fourth ventricle, Dysmetria... |
ORPHA:572798 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral wh... |
ORPHA:352682 |
Pontocerebellar Hypoplasia, Type 9 |
|
Clonus, Ventriculomegaly, Microcephaly, Progressive microcephaly, Spasticity, Midface retrusion, ... |
OMIM:615809 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hypoplasia of the pons, Ventriculomegaly, Hydrocephalus, Type II lisse... |
OMIM:613154 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Diffuse c... |
OMIM:615362 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Hydrocepha... |
OMIM:615287 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Lewy bodies, Repetitive compulsive behavior, Apraxia, Dila... |
OMIM:607485 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly |
OMIM:612247 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly, Limb tremor, Ventriculomegaly, Tremor, Agenesis of corpus callosum, Increased CSF ... |
OMIM:218000 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Rigidity, Spastic tetraplegia, Ventriculomegaly, Ataxia, Hydrocephalus, Spasticity, Abnormal cere... |
OMIM:618476 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
15Q Overgrowth Syndrome |
|
Horseshoe kidney, Hydronephrosis, Ureterovesical stenosis, Syringomyelia, Abnormal renal morpholo... |
ORPHA:314585 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Ataxia, Increased CSF lactate, Incoordination, Abnormal cerebral white matter morphology,... |
OMIM:614947 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly |
ORPHA:2508 |
Hemimegalencephaly |
|
Cranial asymmetry, Hemimegalencephaly, Myoclonus, Ventriculomegaly, Hemiparesis, Pachygyria, Poly... |
ORPHA:99802 |
X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:85285 |
Acalvaria |
|
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Calvarial s... |
ORPHA:945 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Plagiocephaly, Midface retrusion, Abnormal corpus callosum morphology, Stereotypy, Cavum septum p... |
ORPHA:457279 |
Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Substantia nigra gliosis, Parkinsonism |
OMIM:600116 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Prominent metopic rid... |
ORPHA:46 |
Foxg1 Syndrome |
|
Choreoathetosis, Myoclonus, Abnormal corpus callosum morphology, Stereotypy, Pachygyria, Progress... |
ORPHA:561854 |
Slc35A2-Cdg |
|
Dandy-Walker malformation, Cerebral white matter atrophy, Craniosynostosis, Abnormal cerebral whi... |
ORPHA:356961 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Large fontanelles, Frontal bossing, Hydrocephalus, Midface retrusion, Agenesis of corpus callosum... |
OMIM:612940 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Partial agenesis of the corpus callosum, Hypoplasia of the pons, Vocal cord paralysis, Myoclonus,... |
ORPHA:500144 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Anterior pituitary hypoplasia, Decreased respon... |
OMIM:182230 |
Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Focal segmental glomerulosclerosis, Renal cyst, Nephropathy |
OMIM:617056 |
Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Microlissencephaly, Agenesis of cerebel... |
OMIM:601160 |
Microcephaly, Amish Type |
|
Partial agenesis of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia |
OMIM:607196 |
Non-Syndromic Anorectal Malformation |
|
Hypospadias, Myelomeningocele, Syringomyelia, Rectourethral fistula, Tethered cord, Persistent cl... |
ORPHA:557 |
4Q21 Microdeletion Syndrome |
|
Large fontanelles, Stereotypy, Tremor, Ventriculomegaly, Frontal bossing, Cerebellar hypoplasia, ... |
ORPHA:238750 |
Caribbean Parkinsonism |
|
Midline brain calcifications, T2 hypointense basal ganglia, Weakness due to upper motor neuron dy... |
ORPHA:97355 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Cavum septum pellucidum, Spasticity, Cerebral atrophy, Dilation of later... |
ORPHA:464738 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Trigonocephaly, Tremor, Ataxia, Spasticity, Hypoplasia of the corpus callosum, Cerebral cortical ... |
OMIM:300983 |
Atresia Of Urethra |
|
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... |
ORPHA:105 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hydronephrosis, Polyuria |
OMIM:304900 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Rigidity, Abnormal caudate nucleus morphology, Myoclonus, Bradyki... |
ORPHA:314632 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Gabriele-De Vries Syndrome |
|
Tremor, Abnormal cerebral white matter morphology, Ventriculomegaly |
OMIM:617557 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Lissencephaly 6 With Microcephaly |
|
Partial agenesis of the corpus callosum, Limb hypertonia, Microlissencephaly, Simplified gyral pa... |
OMIM:616212 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly, Hypoplasia of the corpus callosum, Progressive spastic paraplegia, Ventriculomegaly |
ORPHA:521390 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypoplasia of the corpus callosum, Gait ataxia, Abnormal lateral ventricle morphology, Cerebellar... |
ORPHA:488635 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Brachycephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydroc... |
ORPHA:272 |
Hsd10 Disease |
|
Rigidity, Choreoathetosis, Myoclonus, Ventriculomegaly, Tremor, Focal white matter lesions, Ataxi... |
ORPHA:391417 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:618265 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microcephaly, Gliosis, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:214150 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... |
ORPHA:98762 |
Melanosis, Neurocutaneous |
|
Syringomyelia |
OMIM:249400 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Renal cyst |
OMIM:228940 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Scissor gait, Bradykinesia, Tremor, Progressive microcephaly, Ankle clonus, Spasti... |
ORPHA:521406 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:610498 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Baraitser-Winter Syndrome 2 |
|
Trigonocephaly, Ventriculomegaly, Pachygyria, Secondary microcephaly, Lissencephaly, Agenesis of ... |
OMIM:614583 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Ventriculomegaly, Pro... |
ORPHA:488627 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism |
OMIM:614307 |
1Q21.1 Microduplication Syndrome |
|
Frontal bossing, Hypertonia, Hydrocephalus |
ORPHA:250994 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Achondroplasia |
|
Frontal bossing, Midface retrusion, Hydrocephalus, Megalencephaly |
OMIM:100800 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Frontal bossing, Hydrocephalus, Dilation of lateral ventricles, Dolichocephaly, A... |
OMIM:612863 |
Glutaric Acidemia I |
|
Opisthotonus, Rigidity, Choreoathetosis, Spastic diplegia, Dilation of lateral ventricles |
OMIM:231670 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Rigidity, Bradykinesia, Slurred speech, Thin corpus callosum, Apraxia, Cerebral at... |
OMIM:300423 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Progressive spasticity, Parkinsonism, Hypothalamic atrophy, Focal T2 hyperintense basal ganglia l... |
ORPHA:2822 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Hypospadias, Syringomyelia |
ORPHA:436003 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis |
OMIM:618161 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Lissencephaly, Agenesis of co... |
OMIM:614833 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Stereotypy, Hypertonia, Dilation of lateral ventricles, Hypoplasia of the corpus ... |
OMIM:618914 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Hypoplasia of penis |
ORPHA:1046 |
Diaphanospondylodysostosis |
|
Multiple renal cysts, Myelomeningocele |
ORPHA:66637 |
Neuronal Intranuclear Inclusion Disease |
|
Rigidity, Leukoencephalopathy, Ventriculomegaly, Tremor, Ataxia, CSF pleocytosis, Increased CSF p... |
OMIM:603472 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Choreoathetosis, Myoclonus, Tremor, Hypertonia, Cerebral calcification, Microcephaly |
OMIM:261630 |
Kohlschutter-Tonz Syndrome-Like |
|
Upper limb spasticity, Midface retrusion, Brachycephaly, Global brain atrophy, Myoclonus, Lower l... |
OMIM:619229 |
Lissencephaly, X-Linked, 2 |
|
Ventriculomegaly, Pachygyria, Wide anterior fontanel, Spasticity, Lissencephaly, Agenesis of corp... |
OMIM:300215 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Aplasia/Hypo... |
ORPHA:79262 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilation of lateral ventricles, Agenesis of corpus callosum |
OMIM:300952 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dysmetria, Ataxia, Myoclonus, Agenesis of corpus callosum |
OMIM:250620 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, Brachycephaly, Microcephaly, Progressive spasticity |
ORPHA:2528 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Hydronephrosis, Urogenital sinus anomaly, Displacement of the urethral meatus, Multicystic kidney... |
ORPHA:2973 |
Glut1 Deficiency Syndrome 2 |
|
Choreoathetosis, Tremor, Ataxia, Hypoglycorrhachia, Cerebral atrophy |
OMIM:612126 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Renal Coloboma Syndrome |
|
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... |
ORPHA:1475 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Oculomotor apraxia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syringomyelia |
ORPHA:404451 |
Craniofacial Dyssynostosis |
|
Craniosynostosis, Frontal bossing, Hydrocephalus, Dolichocephaly, Hypoplasia of the corpus callosum |
ORPHA:1516 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Hematuria, Renal cyst, Nephropathy |
OMIM:611773 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Myoclonus, Tremor, Ataxia, Tetraparesis, Cerebral atrophy, Spasticity, Abnormal pyramidal sign |
OMIM:615924 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Syringomyelia, Myelomeningocele, Neurogenic bladder |
ORPHA:1136 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Micropenis, Renal cyst |
OMIM:614175 |
3-Methylglutaconic Aciduria, Type Viii |
|
Ventriculomegaly, Tremor, Increased CSF lactate, Hypertonia, Cerebral atrophy, Secondary microcep... |
OMIM:617248 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Clonus, Diffuse white matter abnormalities, Agenesis of corpus callosum, Dilated fourth ventricle... |
ORPHA:370959 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus, Stereotypy |
OMIM:619575 |
Bor Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... |
ORPHA:107 |
Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Ventriculomegaly, Progressive microcephaly, Hydrocephalus, Spastici... |
OMIM:610333 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Torticollis, Head tremor, Leukoencephalopathy, Intention tremor, Hypergonadotropic h... |
OMIM:613724 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Fetal megacystis, Hydroureter, Megacystis |
OMIM:619362 |
Aicardi Syndrome |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cyst, Dandy-Walk... |
OMIM:304050 |
Distal Monosomy 10Q |
|
Clonus, Brachycephaly, Craniosynostosis, Inferior vermis hypoplasia, Cavum septum pellucidum, Ocu... |
ORPHA:96148 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microlissencephaly, Primary microcephaly, Abnormality of calvarial morphology, 4-layered lissence... |
ORPHA:89844 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Syringomyelia |
ORPHA:137754 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum |
ORPHA:2101 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
Prune Belly Syndrome |
|
Urethral valve, Hydronephrosis, Hydroureter, Congenital posterior urethral valve |
OMIM:100100 |
Developmental And Epileptic Encephalopathy 65 |
|
Plagiocephaly, Ventriculomegaly, Spasticity, Cerebral atrophy, Microcephaly |
OMIM:618008 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Hypoplasia of the pons, Lissencephaly, Ventriculomegaly, Pachygyria, H... |
OMIM:613153 |
Birt-Hogg-Dube Syndrome |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Cerebral atrophy, Parkinsonism, Se... |
OMIM:617013 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Brachycephaly, Spasticity, Recurrent hand flapping, Hypoplasia of the corpus callosum, Cerebral c... |
OMIM:618859 |
Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Rigidity, Global brain atrophy, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsoni... |
OMIM:612953 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly |
OMIM:109120 |
6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly |
ORPHA:251056 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly, Brachycephaly |
OMIM:610680 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Partial agenesis of the corpus callosum, Opisthotonus, Choreoathetosis, Spastic tetraparesis, Thi... |
OMIM:619653 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Brachycephaly, Dysmetria, Spastic gait, Gait ataxia, Cerebral atrophy, Spastic paraplegia, Hypopl... |
OMIM:615031 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia |
OMIM:236500 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Spinal cord lesion |
ORPHA:171863 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis |
OMIM:616973 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hydronephrosis, Syringomyelia, Abnormality of bladder morphology, Vesicoureteral reflux |
ORPHA:453499 |
Nasu-Hakola Disease |
|
Chorea, Ventriculomegaly, Oculomotor apraxia, Hydrocephalus, Spasticity, Cerebral calcification, ... |
ORPHA:2770 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Subcortical cerebral atrophy, Tremor, Ataxia, Hypertonia, Spasticity, Cerebellar hypopl... |
ORPHA:33445 |
Myopathy, Congenital, Progressive, With Scoliosis |
|
Hydronephrosis, Renal atrophy |
OMIM:618578 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus |
ORPHA:141333 |
Split Cord Malformation |
|
Meningocele, Hydromyelia, Hypospadias, Horseshoe kidney, Hydronephrosis, Myelomeningocele, Detrus... |
ORPHA:573278 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Abnormal cerebral white matter morphology |
OMIM:618951 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Partial agenesis of the corpus callosum, Ventriculomegaly, Cavum septum pellucidum, Cerebellar ve... |
OMIM:619074 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Syringomyelia, Abnormal renal morphology |
ORPHA:477817 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Microcephaly |
ORPHA:26 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Hypoplasia of the corpus callosum |
OMIM:616668 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Dilation of lateral ventricles, Microcephaly |
OMIM:619278 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Acromelic Frontonasal Dysostosis |
|
Choroid plexus cyst, Brachycephaly, Ventriculomegaly, Hypopituitarism, Hypoplasia of the corpus c... |
OMIM:603671 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary renal cell carcin... |
OMIM:145001 |
Amish Lethal Microcephaly |
|
Limb hypertonia, Ventriculomegaly, Cerebellar vermis hypoplasia, Spina bifida, Lissencephaly, Age... |
ORPHA:99742 |
Spondylocostal Dysostosis 5 |
|
Syringomyelia |
OMIM:122600 |
Imagawa-Matsumoto Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum |
OMIM:618786 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Tremor, Progressive cerebellar ataxia, Increased CSF lactate, Focal T2 hypointense bas... |
ORPHA:139485 |
Hereditary Xanthinuria |
|
Hydronephrosis, Decreased urinary urate, Increased urinary hypoxanthine, Xanthine nephrolithiasis... |
ORPHA:3467 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Jaberi-Elahi Syndrome |
|
Choreoathetosis, Dysmetria, Tremor, Spasticity, Gait ataxia, Agenesis of corpus callosum, Microce... |
OMIM:617988 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cloverleaf skull, Large fontanelles, Platybasia, Frontal bossing, Agenesis of corpus callosum |
ORPHA:93267 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Spinal cord lesion |
ORPHA:171617 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Microcephaly |
OMIM:615286 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Myoclonus, Tremor |
OMIM:611092 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Ataxia, Brachycephaly |
ORPHA:404493 |
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
|
Tethered cord, Syringomyelia |
ORPHA:404473 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:164180 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... |
ORPHA:314978 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Polycystic kid... |
OMIM:613095 |
Paganini-Miozzo Syndrome |
|
Dilation of lateral ventricles |
OMIM:301025 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Partial agenesis of the corpus callosum, Primary microcephaly, Cerebellar vermis hypoplasia, Apla... |
OMIM:616819 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Tethered cord, Syringomyelia, Chordee |
OMIM:616728 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries, Syringomyelia |
OMIM:616831 |
Mental Retardation, Autosomal Dominant 36 |
|
Plagiocephaly, Ventriculomegaly, Hydrocephalus, Prominent metopic ridge, Hypoplasia of the corpus... |
OMIM:616362 |
Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
Arnold-Chiari Malformation Type I |
|
Urinary incontinence, Myelopathy, Syringomyelia |
ORPHA:268882 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Microcephaly, Cerebral calcification |
OMIM:615010 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Fetal megacystis, Hydroureter |
OMIM:249210 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly |
OMIM:252650 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dyspl... |
OMIM:263200 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux |
ORPHA:1166 |
Spinocerebellar Ataxia 12 |
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Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head tremor, Parkins... |
OMIM:604326 |
Verheij Syndrome |
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Renal hypoplasia, Renal agenesis, Renal cyst |
OMIM:615583 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Dysmetria, Hypoplasia of the corpus callosum, Rigidity, Tremor |
OMIM:618090 |
Papillorenal Syndrome |
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Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... |
OMIM:120330 |
Isochromosomy Yp |
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Male infertility, Azoospermia |
ORPHA:98797 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Lissencephaly, Hypoplasia of the brainstem, Progressive microcephaly, Hydrocephalus, Agyria, Cere... |
OMIM:615249 |
Autosomal Spastic Paraplegia Type 58 |
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Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Fasciculations, Spastic at... |
ORPHA:397946 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
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Hydrocephalus |
OMIM:236660 |
Biemond Syndrome Ii |
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Hydrocephalus |
OMIM:210350 |
Parkinsonism With Spasticity, X-Linked |
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Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Alagille Syndrome 2 |
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Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency |
OMIM:610205 |
Pyruvate Dehydrogenase Deficiency |
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Choreoathetosis, Cerebral palsy, Trigonocephaly, Ventriculomegaly, Tremor, Ataxia, Frontal bossin... |
ORPHA:765 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
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Brachycephaly, Dysmetria, Gait ataxia, Cerebral atrophy, Hypoplasia of the corpus callosum, Micro... |
ORPHA:320385 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
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Plagiocephaly, Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Midface retrusion, Microcephaly |
OMIM:618731 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
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Dysmetria, Global brain atrophy, Tremor, Aplasia of the inferior half of the cerebellar vermis, D... |
OMIM:610185 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
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Agenesis of corpus callosum |
OMIM:600638 |
Mental Retardation, Autosomal Dominant 13 |
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Plagiocephaly, Spastic tetraplegia, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypoplasi... |
OMIM:614563 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
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Type II lissencephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Hyperphenylalaninemia, Bh4-Deficient, D |
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Tremor, Hypertonia |
OMIM:264070 |
Diabetic Embryopathy |
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Ureteral duplication, Hydronephrosis, Renal hypoplasia/aplasia, Micropenis, Spinal dysraphism |
ORPHA:1926 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasia, Tremor, Ataxia, Dysdiadochokines... |
OMIM:614831 |
Nephronophthisis 4 |
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Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:606966 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
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Clumsiness, Dysgenesis of the hippocampus, Noncommunicating hydrocephalus, Ataxia, Turricephaly, ... |
OMIM:619320 |
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