Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nuclear factor I/A
Synonyms:
NF1A,  9430022M17Rik,  1110047K16Rik,  NF1-A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nfia mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nfia by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Syringomyelia, Vesicoureteral reflux OMIM:613735
1P31P32 Microdeletion Syndrome
Craniosynostosis, Ventriculomegaly, Frontal bossing, Aplasia/Hypoplasia of the corpus callosum ORPHA:401986

The table below shows human diseases predicted to be associated to Nfia by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat... ORPHA:363654
Band Heterotopia
Ventriculomegaly, Spasticity, Plagiocephaly, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Hand tremor, Periventricular leuko... OMIM:615889
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr... OMIM:614039
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Chudley-Mccullough Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Cerebellar hypopla... OMIM:604213
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Resting tremor, Chorea, Abnormal periventricular white matter morphology... OMIM:619725
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:610031
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Babinski sign, Colpocephaly, Primary microcep... OMIM:614019
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Simplified gyral pattern, Hypoplasia of the corpus callo... OMIM:608716
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Thick corpus callosum, Megalencephaly OMIM:615938
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... ORPHA:101029
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Kinetic tremor, Tremor OMIM:611808
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Cerebellar hypoplasia, Hydrocephalus, Dolichocephaly, Frontal bossing, ... ORPHA:1538
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Hypoplasia of the pons, Dysgen... ORPHA:300573
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Progressive spasticity, Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Agenesis of corpus callosum, Babinski ... ORPHA:401820
Lissencephaly 3
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Hypo... OMIM:611603
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Masa Syndrome
Spastic paraplegia, Ventriculomegaly, Hemiplegia/hemiparesis, Agenesis of corpus callosum ORPHA:2466
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Cerebral cortical ... ORPHA:306669
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... OMIM:615937
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Dilated third ventricle, Plagiocephaly, Lateral ventricle dilatation, Cerebra... OMIM:617296
Craniosynostosis 6
Plagiocephaly, Lateral ventricle dilatation, Parietal foramina, Right unilambdoid synostosis, Bic... OMIM:616602
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum ORPHA:200
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Optic nerve hypoplasia, Lateral ventricle dilatation, Hypoplasia of ... OMIM:618736
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callos... ORPHA:401830
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Focal... OMIM:615771
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Lateral ventricle dilatation, Hemiparesis, Cortical dysplasia, Thick cerebra... ORPHA:101071
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Gait ataxia, Myoclonus, Agenesis of corpus callosum, Action myoclonus, Frequent... OMIM:616540
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Brachycep... OMIM:620200
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Trigonocepha... OMIM:609637
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy, Hydrocephalus, S... ORPHA:2703
Caudal Duplication
Abnormal penis morphology, Renal hypoplasia/aplasia, Spinal cord lesion, Spina bifida, Ureteral d... ORPHA:1756
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Tetraparesis, Increased ... ORPHA:255182
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Hypogonadotropic hypogonadism, M... OMIM:619420
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Ataxia, Corti... OMIM:618709
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:619501
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Neuronal loss in basal ganglia, Cerebral cortical atrophy, Lateral ventric... OMIM:607596
Autosomal Dominant Spastic Paraplegia Type 41
Spinal cord lesion, Urinary urgency ORPHA:320355
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis ORPHA:2807
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Masa Syndrome
Spastic paraplegia, Ventriculomegaly, Paraplegia, Agenesis of corpus callosum, Microcephaly, Lowe... OMIM:303350
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Agenesis of corpus callosum, Dystonia, Cerebellar hypoplasia, Hydroc... OMIM:619302
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly, Spasticity, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Age... OMIM:617090
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... OMIM:220200
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... OMIM:619244
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo... OMIM:619301
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the brainstem,... OMIM:618266
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Lissencephaly, Agenesis of corpus callosum OMIM:300067
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Syringomyelia, Vesicoureteral reflux OMIM:613735
Asparagine Synthetase Deficiency
Dilated third ventricle, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Clonus, Spast... OMIM:615574
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... ORPHA:1528
Tetrasomy 15Q26
Horseshoe kidney, Syringomyelia, Hydronephrosis OMIM:614846
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Spastic tetraparesis, Periventricular cy... OMIM:617668
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus... OMIM:618492
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Autosomal Dominant Spastic Paraplegia Type 37
Spinal cord lesion, Urinary urgency ORPHA:171612
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Cerebral calcification, Hemiplegia/hemiparesis, Hydrocephalus, Ataxia ORPHA:99966
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Spasticity, Inferior cerebellar vermis hypoplasia, Hypoplasia of the corpus cal... OMIM:304100
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Syringomyelia, Noncommunicating Isolated
Urinary incontinence, Syringomyelia OMIM:186700
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Spasticity, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hypert... OMIM:618890
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Ventriculomegaly, Myoclonus, Brachycephaly, Frontal cortical atrophy, Limb tremor, Hypertonia OMIM:300699
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Frontal bossing, Lateral ventricle dilatation, Poor fine motor coordination OMIM:618330
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Syringomyelia ORPHA:531151
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Ventriculomegaly, Thin corpus callosum, Agenesis of corpus callosum OMIM:618286
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukoencephalopathy, Spasticity, Hemiplegia, Cerebral calcification, Tremor, Abnormality of extra... OMIM:614561
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Pineocytoma
Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251912
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus c... ORPHA:85179
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Myoclonus, Hypoplasia of the corpus c... ORPHA:284417
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia ca... OMIM:221770
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Calvarial skull defect, Enceph... ORPHA:1931
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... OMIM:218670
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Plagiocephaly, Hypogonadism, Periventricular leukomala... ORPHA:500055
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Autosomal Dominant Spastic Paraplegia Type 8
Urinary incontinence, Spinal cord lesion, Urinary urgency ORPHA:100989
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum OMIM:616570
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Clumsiness, Ba... ORPHA:453521
Developmental And Epileptic Encephalopathy 88
Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Progressive micro... OMIM:618959
Cach Syndrome
Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Limb ataxia, Dysgyria, Dysmetria, Hem... ORPHA:135
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Spasticity, Optic nerve hypoplasia, Dysgenesis of... ORPHA:171680
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Hydrocephalus, Congenital, X-Linked
Spastic paraplegia, Spasticity, Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesi... OMIM:307000
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Lateral ventricle dilatation, Diffuse cerebral atrophy, Microcephaly, Corpus callosum... ORPHA:77299
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Familial Congenital Mirror Movements
Cerebral palsy, Abnormal corticospinal tract morphology, Agenesis of corpus callosum, Clumsiness,... ORPHA:238722
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Cerebral atrophy, Agenesis of corpus callosum, Cerebellar h... OMIM:615095
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Pyruvate Dehydrogenase E1-Beta Deficiency
Abnormal calvaria morphology, Ventriculomegaly, Corticospinal tract hypoplasia, Hypoplasia of the... ORPHA:255138
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Spasticity, Oculogyric crisis, Lateral ventricle dilatation, ... ORPHA:208447
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... ORPHA:79326
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hypoplasia of the pons, ... OMIM:613154
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
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Spasticity, Lateral ventricle dilatation, Microcephaly, Partial agenesis of the corpus callosum, ... OMIM:619517
Autosomal Dominant Spastic Paraplegia Type 19
Spinal cord lesion, Urinary urgency ORPHA:100999
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Syringomyelia, ... ORPHA:314588
Malan Overgrowth Syndrome
Ventriculomegaly, Plagiocephaly, Lateral ventricle dilatation, Episodic ataxia, Hypoplasia of the... ORPHA:420179
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Cerebral atrophy, Episodic ataxia, Increased CSF lactate, Myoclonus, Tremor, Ag... OMIM:312170
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619466
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Spastic paraplegia, Subependymal cysts, Partial agenesis of the corpus callosum, Trigonocephaly, ... OMIM:245349
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Agenesis of corpus callosum, Babinski sign OMIM:610245
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Kleeblattschaedel
Craniosynostosis, Hydrocephalus, Cloverleaf skull OMIM:148800
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Spasticity, Dilated third ventricle, Resting tremor, Cerebral atrophy, Head tremor, Babinski sign... ORPHA:314404
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Colpoce... ORPHA:401815
Spinal Cord Injury
Syringomyelia, Spinal cord lesion, Urinary retention, Urinary bladder sphincter dysfunction ORPHA:90058
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Plagiocephaly, Unilambdoid synostosis, Hypoplasia of the corpus callosum, Agene... OMIM:618577
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Involuntary movements, Lateral ventricle dilatation, Cerebra... ORPHA:565624
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Periventricular white matter hyperintensities, Tremor, Microcephaly, Hydrocephalus, Spastic tetra... OMIM:619470
Lissencephaly 5
Leukoencephalopathy, Spastic paraplegia, Cerebellar vermis hypoplasia, Occipital encephalocele, H... OMIM:615191
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Lateral ventricle dilatation, Type II lissencephaly, Abnormal basal ganglia morpholog... ORPHA:300570
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Spasticity, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Babinski... OMIM:615599
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Turricephaly, Brachycephaly, Hydrocephalus, Ataxia ORPHA:1532
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Lateral ventricle dilatation, Secondary microcephaly, Myoclonus, Dystonia, Clumsiness... OMIM:617854
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Ventriculomegaly, Gait ataxia, Myoclonus, Tremor, Abnormality of extra... OMIM:615362
Microcephaly 16, Primary, Autosomal Recessive
Simplified gyral pattern, Primary microcephaly, Agenesis of corpus callosum OMIM:616681
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Spermatogenic Failure 17
Male infertility OMIM:617214
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Brachyturricephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callo... OMIM:218350
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Leukoencephalopathy, Spasticity, Tremor, Babinski sign, Ataxia OMIM:611105
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Syringomyelia, Ectopic kidney ORPHA:94063
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Spasticity, Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Hydroc... ORPHA:2182
Chiari Malformation Type I
Urinary incontinence, Syringomyelia OMIM:118420
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum ORPHA:166024
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Abnormal periventricula... OMIM:613443
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Global brain atrophy, Hypoplasia of the pons OMIM:618276
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dolichocephaly, Dystonia OMIM:618425
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Ventriculomegaly, Plagiocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... OMIM:618603
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Ankle clonus, Brachycephaly, Frequent falls, Intention tremor, Lowe... OMIM:619995
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Spasticity, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Babinski... ORPHA:397951
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Fried Syndrome
Thickened calvaria, Cerebral calcification, Hydrocephalus, Spastic diplegia ORPHA:85335
Spastic Paraparesis And Deafness
Hypogonadism, Spastic paraparesis, Tremor OMIM:312910
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Involuntary movements, Thin corpus callosum, Lateral ventricle dilatation OMIM:615716
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Spastic Paraplegia 54, Autosomal Recessive
Urinary incontinence, Syringomyelia OMIM:615033
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Lateral ventricle dilatation, Cerebral palsy, Cerebral atrophy, Limb dystonia, Myoclo... OMIM:619847
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Congenital Hydrocephalus
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus,... ORPHA:2185
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology, Global brain atrophy ORPHA:324422
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Plagiocephaly, Lateral ventricle dilatation, Polymicrogyria, Hypopl... OMIM:617751
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Morning myoclonic jerks, Diffuse cerebral atrophy, Microcephaly, Brachycephaly, Fl... ORPHA:2898
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Periventricular leukomalacia, Agenesis of corpus callosum OMIM:618324
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Plagiocephaly, Progressive spastic paraplegia ORPHA:521390
Hemimegalencephaly
Ventriculomegaly, Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Myoclonus, Hemipa... ORPHA:99802
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated thir... ORPHA:397715
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Microcephaly, Abnormal... OMIM:607317
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly, Tremor OMIM:619561
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Split Cord Malformation Type I
Diastomatomyelia ORPHA:1671
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lis... OMIM:613153
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ocu... OMIM:608629
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Increased CSF lactate, Agenesis of corpus callosum, Caudate atrophy, Dystonia, Spasti... OMIM:618238
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Secondary Syringomyelia
Hyperintensity of MRI T2 signal of the spinal cord, Syringomyelia, Dysuria ORPHA:99857
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Plagiocephaly, Alobar holoprosencephaly, Agenesis of corpus callosum, Brachycep... OMIM:615433
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum, Hemipa... OMIM:617542
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Reduced cerebral white matter volume, Hypoplasia of the brainstem, Secondary microcephaly, Hypopl... OMIM:618174
Corpus Callosum Agenesis-Neuronopathy Syndrome
Hemiplegia/hemiparesis, Turricephaly, Agenesis of corpus callosum, Microcephaly, Aqueductal steno... ORPHA:1496
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Brachycephaly, Lateral ventricle dilatation ORPHA:85290
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Autosomal Recessive Primary Microcephaly
Ventriculomegaly, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pac... ORPHA:2512
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Microcephaly, Frontal cortical atrophy, Parietal cortical atrophy, Agenesis of corpus callosum OMIM:618766
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:603860
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Babinski sign, Hydrocephalus, Ataxia ORPHA:73256
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Autosomal Dominant Spastic Paraplegia Type 12
Urinary incontinence, Spinal cord lesion, Urinary urgency ORPHA:100993
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Periventricular cysts, Dysplas... ORPHA:544488
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, C... OMIM:620371
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Syringomyelia, Ecto... ORPHA:140952
Holoprosencephaly 11
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
Proximal 16P11.2 Microdeletion Syndrome
Syringomyelia, Multicystic kidney dysplasia ORPHA:261197
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgyria, Cerebellar... ORPHA:352682
Alexander Disease Type I
Spasticity, Focal T2 hyperintense basal ganglia lesion, Abnormal pyramidal sign, Abnormal cerebra... ORPHA:363717
D-2-Hydroxyglutaric Aciduria 1
Lateral ventricle dilatation, Elevated CSF D-2-hydroxyglutaric acid concentration, Multifocal cer... OMIM:600721
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinski sign... OMIM:615768
Lissencephaly 7 With Cerebellar Hypoplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Neonatal death, Agyria, Lissenc... OMIM:616342
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelitis, Functional abnormality of the bladder, Urinary retention, Myelopat... ORPHA:79093
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Spasticity, Ventriculomegaly, Hypoplasia of the optic tract, Hypoplasi... ORPHA:500144
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Abnormal periventricular white matter morphology, ... OMIM:604360
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Neonatal death, Decreased CSF gl... OMIM:610015
Developmental And Epileptic Encephalopathy 65
Ventriculomegaly, Spasticity, Plagiocephaly, Cerebral atrophy, Microcephaly OMIM:618008
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Dystonia, Thin cor... OMIM:614105
Sporadic Fetal Brain Disruption Sequence
Cerebral cortical atrophy, Spasticity, Plagiocephaly, Prominent occiput, Microcephaly ORPHA:1665
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... OMIM:617967
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Caribbean Parkinsonism
Cerebral cortical atrophy, Ventriculomegaly, T2 hypointense basal ganglia, Midline brain calcific... ORPHA:97355
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Microcepha... OMIM:614219
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
2,4-Dienoyl-Coa Reductase Deficiency
Spasticity, Ventriculomegaly, Cerebral atrophy, Incoordination, Increased CSF lactate, Increased ... OMIM:616034
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia OMIM:614830
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Partial agenesis o... OMIM:616171
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Ventriculomegaly, Spasticity, Decreased response to growth hormone stimulation test, Agenesis of ... OMIM:615286
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Gait ataxia, ... OMIM:618606
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Neurocutaneous Melanocytosis
Syringomyelia, Renal hypoplasia/aplasia ORPHA:2481
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Neuronal loss in the cerebral cortex, Agenesis of corpus callosum, Cerebella... ORPHA:168486
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Cerebral calcification, Gait ataxia... ORPHA:101110
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Microhydranencephaly
Ventriculomegaly, Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cere... OMIM:605013
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebellar vermis hypoplasia, Cer... OMIM:618291
Joubert Syndrome 20
Renal cyst OMIM:614970
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Plagiocephaly, Global brain atrophy, Dystonia, Microcephaly, Abnormal pyramidal... OMIM:308350
Craniosynostosis 3
Bicoronal synostosis, Sagittal craniosynostosis, Right unicoronal synostosis, Left unicoronal syn... OMIM:615314
Glycine Encephalopathy 1
Agenesis of corpus callosum OMIM:605899
Lissencephaly 6 With Microcephaly
Ventriculomegaly, Spasticity, Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, Mi... OMIM:616212
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:600118
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Glutaric Acidemia I
Lateral ventricle dilatation, Rigidity, Opisthotonus, Hydrocephalus, Dystonia, Choreoathetosis, S... OMIM:231670
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Cerebellar vermis hypoplasia, Ventriculomegaly, Lateral ventricle dilatation... ORPHA:572798
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebral cortical atrophy, Hypopl... OMIM:617669
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Frontal bossing, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
15Q Overgrowth Syndrome
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphol... ORPHA:314585
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:2508
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Lateral ventricle dilatation, Dilated fourth ventricle, Myoclonus, Cerebellar hypopla... ORPHA:3078
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Cerebral palsy, Secondary microcephaly, Abnormal caudate nucleus mo... ORPHA:2148
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Alexander Disease
Increased CSF protein concentration, Spasticity, Dysmetria, Babinski sign, Hydrocephalus, Ataxia,... OMIM:203450
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Acalvaria
Calvarial skull defect, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Holopr... ORPHA:945
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Generalized dystonia, Partial agenesis of the corpus callosum, Dystonia, Opisthotonus... OMIM:619653
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly... ORPHA:272
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly, Ataxia ORPHA:404493
1Q21.1 Microduplication Syndrome
Frontal bossing, Hydrocephalus, Hypertonia ORPHA:250994
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Dolichocephaly, Hydrocephalus, Partial absence of cerebellar vermis, Tr... OMIM:220220
Developmental And Epileptic Encephalopathy 36
Cerebral atrophy, Abnormality of extrapyramidal motor function, Microcephaly, Abnormal pyramidal ... OMIM:300884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebral atrophy, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Sc... ORPHA:521406
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia o... ORPHA:464738
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor, Agenesis of corpus callosum OMIM:231950
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Houge-Janssens Syndrome 2
Ventriculomegaly, Plagiocephaly, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corp... OMIM:616362
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu... OMIM:604804
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Scaphocephaly, Hydrocephalus, Thick corpus callosum, Dolichocephaly, Megalencephaly OMIM:248000
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Leukoencephalopathy, Ventriculomegaly, Cerebral atrophy, Dilated fourth ventricle, Agenesis of co... OMIM:620428
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Foxg1 Syndrome
Abnormal corpus callosum morphology, Spasticity, Myoclonus, Hypoplasia of the corpus callosum, Ag... ORPHA:561854
Greig Cephalopolysyndactyly Syndrome
Abnormal calvaria morphology, Ventriculomegaly, Trigonocephaly, Scaphocephaly, Hypoplasia of the ... OMIM:175700
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microcephaly, Brachycephaly, Progressive spasticity ORPHA:2528
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Hypoplasia of the brainstem, Myoclonus, Tremor, Dystonia, Thin corpus callosum OMIM:619651
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Spasticity, Cerebral atrophy, Cerebral calcification, CSF lymphocytic pleiocyto... OMIM:610333
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Ventriculomegaly, Decreased thalamic volume, Occipital enceph... ORPHA:370959
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Hsd10 Disease
Ventriculomegaly, Spastic paraparesis, Frontotemporal cerebral atrophy, Myoclonus, Tremor, Rigidi... ORPHA:391417
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Dilated fourth ventricle, Limb ataxia, Gait ataxia, Dysmetria, Tremor... OMIM:213200
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Increased CSF protein concentration, Ventriculomegaly, Diffuse white matter abnormalities, Tremor... OMIM:218000
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Agenesis of corpus callosum OMIM:610498
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Gait ataxia, Hypoplasia of the corp... ORPHA:488635
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Contractures-Developmental Delay-Pierre Robin Syndrome
Syringomyelia, Hypospadias ORPHA:436003
Melanosis, Neurocutaneous
Syringomyelia OMIM:249400
Slc35A2-Cdg
Lateral ventricle dilatation, Cerebral atrophy, Cortical dysplasia, Hypoplasia of the corpus call... ORPHA:356961
Baraitser-Winter Syndrome 2
Ventriculomegaly, Secondary microcephaly, Trigonocephaly, Agenesis of corpus callosum, Pachygyria... OMIM:614583
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Spasticity, Trigonocephaly, Hypoplasia of the corpus callosum, Tremor,... OMIM:300983
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic paraplegia, Cerebral atrophy, Gait ataxia, Dysmetria, Hypoplasia of the corpus callosum, ... OMIM:615031
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Abnormal caudate nucleus morphology, Tremor, Rigidity, Dystonia, Babi... ORPHA:314632
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Symmetric lesions of the basal ganglia, Tremor, Rigidity, Bradykine... OMIM:609161
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Spina bifida OMIM:207950
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Increased CSF homovanillic acid concentration, Chorea, Limb dystonia, Cogwheel... OMIM:613135
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... ORPHA:2973
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Neuronal Intranuclear Inclusion Disease
Leukoencephalopathy, Increased CSF protein concentration, Ventriculomegaly, Tremor, Rigidity, Ata... OMIM:603472
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcep... OMIM:620352
6Q25 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Plagiocephaly, Agenesis of corpus callosum ORPHA:251056
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syringomyelia ORPHA:404451
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Orbital encephalocele, Hypoplasia of the corpus callosum, Agenesis of ... OMIM:164180
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... ORPHA:488627
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Coach Syndrome 2
Cerebellar vermis hypoplasia, Oculomotor apraxia, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency OMIM:615996
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babin... OMIM:611302
Adenylosuccinate Lyase Deficiency
Microcephaly, Brachycephaly, Hypointensity of cerebral white matter on MRI, Flat occiput ORPHA:46
Autosomal Dominant Spastic Paraplegia Type 42
Spinal cord lesion ORPHA:171863
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Syringomyelia ORPHA:137754
Axial Osteomalacia
Renal cyst OMIM:109130
Lateral Meningocele Syndrome
Syringomyelia, Neurogenic bladder, Tethered cord, Dural ectasia OMIM:130720
Nasu-Hakola Disease
Cerebral cortical atrophy, Ventriculomegaly, Spasticity, Chorea, Cerebral calcification, Oculomot... ORPHA:2770
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hydronephrosis, Abnormal bladder morphology, Vesicoureteral reflux, Syringomyelia ORPHA:453499
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hypoplasia of the corpus callosum, Dolichocephaly, Hydrocephalus, Craniosynostosis, Frontal bossing ORPHA:1516
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Septooptic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum OMIM:182230
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, D... OMIM:615924
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Subependymal Nodular Heterotopia
Occipital encephalocele, Focal cortical dysplasia, Polymicrogyria, Myelomeningocele, Meningocele,... ORPHA:101030
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Syringomyelia, Abnormal renal morphology ORPHA:477817
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissenceph... OMIM:614833
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Probst bundles, Agenesis of corpus callosum, Hydrocephalus, Dolicho... OMIM:612863
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... OMIM:620156
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substanti... ORPHA:2822
Lissencephaly, X-Linked, 2
Pachygyria, Gliosis, Lissencephaly, Agenesis of corpus callosum OMIM:300215
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Cerebellar vermis hypoplasia, Plagiocephaly, Focal cortical dysplasia, Hypoplasia of the brainste... OMIM:614563
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal calvaria morphology, Cerebral calcification, Prominent occiput, Hypoplasia of the corpus... ORPHA:89844
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis OMIM:619362
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Abnormal pyramidal sign, Abnormal pyramidal tract morphology, Lateral ventric... OMIM:256850
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism,... ORPHA:98762
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Aicardi Syndrome
Cerebellar vermis hypoplasia, Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyr... OMIM:304050
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Myoclonus, Dysmetria, Agenesis of corpus callosum, Head titubation, Ataxia, Truncal ataxia, Dystonia OMIM:250620
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... OMIM:145001
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebral atrophy, Gait ataxia, Hypoplasia of the corpus callosum, Dysmetria, Microcephaly, Brachy... ORPHA:320385
Spondylocostal Dysostosis 5
Syringomyelia OMIM:122600
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Neuroferritinopathy
Resting tremor, Abnormal basal ganglia morphology, T2 hypointense thalamus, Parkinsonism, Bradyki... ORPHA:157846
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Hydronephrosis, Sy... OMIM:616580
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Hypertonia, Lateral ventricle dilatation, Cerebral palsy OMIM:618914
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpu... OMIM:225790
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:141333
Autosomal Dominant Spastic Paraplegia Type 38
Spinal cord lesion ORPHA:171617
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia OMIM:613730
Pyruvate Dehydrogenase Deficiency
Spasticity, Ventriculomegaly, Cerebral palsy, Aplasia/Hypoplasia of the corpus callosum, Trigonoc... ORPHA:765
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
4Q21 Microdeletion Syndrome
Ventriculomegaly, Tremor, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal bossing