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Gene: Nfia MGI:108056

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:

9430022M17Rik, NF1A, 1110047K16Rik, NF1-A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Nfia (2 diseases)
Human diseases predicted to be associated with Nfia (1660 diseases)

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		Vesicoureteral reflux, Syringomyelia, Renal hypoplasia, Hydronephrosis	OMIM:613735
1P31P32 Microdeletion Syndrome		Frontal bossing, Ventriculomegaly, Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum	ORPHA:401986

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

Disease	Matching phenotypes	Source
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Ureter, Cancer Of	Neoplasm of the ureter	OMIM:191600
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Lateral ventricle dilatation, Spastic...	OMIM:600348
Leukoencephalopathy, Progressive, With Ovarian Failure	Progressive leukoencephalopathy, Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tre...	OMIM:615889
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc...	OMIM:619725
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Lissencephaly 4	Babinski sign, Simplified gyral pattern, Colpocephaly, Hypertonia, Lissencephaly, Cerebellar hypo...	OMIM:614019
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Microcephaly 5, Primary, Autosomal Recessive	Flat occiput, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, ...	OMIM:608716
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly	ORPHA:171703
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:615938
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly	OMIM:611808
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Oromotor apraxia, Dysge...	ORPHA:300573
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C...	ORPHA:401820
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Frontal bossing, Orbital craniosynostosis, Hydrocephalus, Cerebellar hypoplasia, Dolichocephaly, ...	ORPHA:1538
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Agyria, Microcephaly, Spastic tetraplegia, Hypoplasia of th...	OMIM:611603
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation, Brachycephaly, Progressive spasticity	OMIM:619972
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Masa Syndrome	Hemiplegia/hemiparesis, Spastic paraplegia, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Cerebral cortical ...	ORPHA:306669
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom...	OMIM:615937
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Craniosynostosis 6	Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Spina bifida occulta, Brachyceph...	OMIM:616602
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Spina bifida occulta,...	OMIM:618736
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr...	ORPHA:401830
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Partial agenesis of the corpus callosum, Spastic paraplegia, Brachycephaly, Cere...	OMIM:617296
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age...	OMIM:615771
Unilateral Hemispheric Polymicrogyria	Thick cerebral cortex, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Cerebral hy...	ORPHA:101071
Hydrocephalus, Autosomal Dominant	Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis	OMIM:123155
Epilepsy, Progressive Myoclonic, 9	Simplified gyral pattern, Gait ataxia, Myoclonus, Action myoclonus, Frequent falls, Agenesis of c...	OMIM:616540
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Cryptorchidism, Brachycephaly, Simplified gyral pattern, C...	OMIM:619244
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Brachycephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus ...	OMIM:620200
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy...	ORPHA:2703
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hypoplasia of the pons, Hand tremor, Limb a...	OMIM:607596
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Spinal c...	ORPHA:1756
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Spastic diplegia, Periventricular cysts, Increased CSF lactate, Cerebral atrophy, A...	ORPHA:255182
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Ventriculomegaly, Abnormal corpus callos...	OMIM:618709
Martsolf Syndrome 2	Hypogonadotropic hypogonadism, Microcephaly, Spastic diplegia, Lateral ventricle dilatation, Hypo...	OMIM:619420
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Hypertonia, Cerebellar...	OMIM:617090
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Simplified gyral pat...	OMIM:619302
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia	ORPHA:2807
Masa Syndrome	Lower limb spasticity, Microcephaly, Hydrocephalus, Spastic paraplegia, Paraplegia, Agenesis of c...	OMIM:303350
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Unilateral cryptorchidism, Agenesis of corpus callosum, Thin corpus callosum, Ven...	OMIM:618286
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasi...	OMIM:618266
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Atypical Teratoid Rhabdoid Tumor	Cerebral calcification, Cerebral palsy, Ataxia, Hemiplegia/hemiparesis, Hydrocephalus	ORPHA:99966
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cer...	OMIM:617668
Lissencephaly, X-Linked, 1	Pachygyria, Agenesis of corpus callosum, Agyria, Lissencephaly	OMIM:300067
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Syringomyelia, Renal hypoplasia, Hydronephrosis	OMIM:613735
Asparagine Synthetase Deficiency	Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Reduced cerebral white matter volume, Trem...	OMIM:615574
Tetrasomy 15Q26	Syringomyelia, Hydronephrosis, Horseshoe kidney	OMIM:614846
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Craniotelencephalic Dysplasia	Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal en...	ORPHA:1528
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Autosomal Dominant Spastic Paraplegia Type 41	Urinary urgency, Spinal cord lesion	ORPHA:320355
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypo...	OMIM:304100
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Syringomyelia, Noncommunicating Isolated	Syringomyelia, Urinary incontinence	OMIM:186700
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the...	OMIM:618890
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul...	ORPHA:85179
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Hypoplasia o...	OMIM:618577
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Frontal bossing, Lateral ventricle dilatation, Poor fine motor coordination	OMIM:618330
Pyruvate Dehydrogenase E1-Alpha Deficiency	Periventricular leukomalacia, Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Cere...	ORPHA:79243
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
9Q21.13 Microdeletion Syndrome	Syringomyelia, Hydronephrosis	ORPHA:531151
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Babinski sign, Cerebral atrophy, Leukoencephalopath...	OMIM:221770
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Cryptorchidism, Hydrocephalus, Brachycephaly, Hypoplasia of the corpus callosum,...	OMIM:218350
Leukoencephalopathy, Brain Calcifications, And Cysts	Cerebral calcification, Ataxia, Tremor, Abnormal pyramidal sign, Leukoencephalopathy, Abnormality...	OMIM:614561
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Spastic tetraparesis, Craniosynostosis, Simplified gyral pattern, L...	ORPHA:284417
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Autosomal Dominant Spastic Paraplegia Type 37	Urinary urgency, Spinal cord lesion	ORPHA:171612
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly, Cryptorchidism, Hydroc...	ORPHA:500055
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:616570
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Cerebellar vermis hypoplasia, Babinski sign, Slurred speech, Dysmetria, Clumsiness, Gai...	ORPHA:453521
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Combined Oxidative Phosphorylation Defect Type 39	Lower limb spasticity, Involuntary movements, Microcephaly, Corpus callosum atrophy, Cryptorchidi...	ORPHA:565624
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph...	ORPHA:171680
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation, Sp...	ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ...	OMIM:613154
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal t...	OMIM:307000
Autosomal Dominant Spastic Paraplegia Type 8	Urinary urgency, Urinary incontinence, Spinal cord lesion	ORPHA:100989
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Cach Syndrome	Premature ovarian insufficiency, Microcephaly, T2 hypointense thalamus, Spastic diplegia, Limb at...	ORPHA:135
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Microcephaly, Diffuse white matter abnormalities, Spastic tetraplegia, Eyelid ...	ORPHA:208447
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Gómez-López-Hernández Syndrome	Turricephaly, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Brachycephaly, Midface retrusion	ORPHA:1532
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular leukomalacia, Ataxia, Periventricular cysts, Abnormal calvaria morphology, Hypopl...	ORPHA:255138
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Gliosis, Cerebe...	OMIM:615095
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas...	ORPHA:79326
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
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
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Spasticity, ...	OMIM:619517
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Syringomyelia, Polyc...	ORPHA:314588
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Spastic paraplegia, Poor gross mot...	OMIM:245349
Pyruvate Dehydrogenase E1-Alpha Deficiency	Frontal bossing, Microcephaly, Tremor, Cerebral atrophy, Increased CSF lactate, Choreoathetosis, ...	OMIM:312170
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Agenesis of corpus callosum	OMIM:610245
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly	OMIM:619466
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Ataxia, Abnormal cerebrospinal fluid morphology, Babinski sign, Cerebral atrophy,...	ORPHA:314404
Familial Congenital Mirror Movements	Cerebral palsy, Hypogonadotropic hypogonadism, Clumsiness, Poor fine motor coordination, Abnormal...	ORPHA:238722
Malan Overgrowth Syndrome	Frontal bossing, Scaphocephaly, Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the br...	ORPHA:420179
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Kleeblattschaedel	Hydrocephalus, Cloverleaf skull, Craniosynostosis	OMIM:148800
Autosomal Recessive Spastic Paraplegia Type 66	Lower limb spasticity, Progressive spastic paraplegia, Colpocephaly, Cerebellar hypoplasia, Hypop...	ORPHA:401815
Microcephaly 16, Primary, Autosomal Recessive	Cryptorchidism, Simplified gyral pattern, Spastic tetraplegia, Primary microcephaly, Spasticity, ...	OMIM:616681
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Spastic tetraparesis, Microcephaly, Tremor, Hydrocephalus, Simplified gyral pattern, Periventricu...	OMIM:619470
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Spastic paraplegia, Porence...	OMIM:615191
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Microcephaly, Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Secondary ...	OMIM:615599
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly, Limb tremor, Hypertonia, Myoclonus, Frontal cortical atrophy, Ventriculomegaly	OMIM:300699
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Flat occiput, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified g...	ORPHA:300570
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Autosomal Dominant Spastic Paraplegia Type 19	Urinary urgency, Spinal cord lesion	ORPHA:100999
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Lateral v...	OMIM:617854
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Cryptorchidism, Brachycephaly, Plagiocephaly, Dolichocephaly, Agenesis ...	OMIM:615433
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Microcephaly, Cryptorchidism, Primary microcephaly, Babinski sign, Spasti...	OMIM:619847
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation, Brachycephaly, Microcephaly	ORPHA:85290
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramid...	OMIM:615362
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Leukoencephalopathy, Spasticity	OMIM:611105
12Q14 Microdeletion Syndrome	Syringomyelia, Renal hypoplasia, Horseshoe kidney, Ectopic kidney	ORPHA:94063
Renal Tubular Dysgenesis	Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts	ORPHA:3033
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Chiari Malformation Type I	Syringomyelia, Urinary incontinence	OMIM:118420
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosenc...	ORPHA:2182
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation...	OMIM:613443
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Brachycephaly, Plagiocephaly, Hypoplasia of th...	OMIM:618603
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Hypoplasia of the pons, Dysplastic corpus callosum, Global brain atrophy, Microcephaly	OMIM:618276
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Dolichocephaly, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Extra-axi...	OMIM:618291
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin corpus callosum, Lateral ventricle dilatation, Involuntary movements, Microcephaly	OMIM:615716
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Secondary microcephaly, ...	ORPHA:397951
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, Frequent falls,...	OMIM:619995
Fried Syndrome	Hydrocephalus, Cerebral calcification, Thickened calvaria, Spastic diplegia	ORPHA:85335
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Reduced cerebral white matter volume, Hydrocephalus, Spastic tetraplegia, Hypoplasia of t...	OMIM:618174
Spastic Paraplegia 54, Autosomal Recessive	Syringomyelia, Urinary incontinence	OMIM:615033
Congenital Hydrocephalus	Frontal bossing, Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, ...	ORPHA:2185
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:274270
Alg13-Cdg	Abnormal lateral ventricle morphology, Global brain atrophy, Clumsiness	ORPHA:324422
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Craniosynostosis, Cryptorchidism, Hydrocephalus, Scaphocephaly, Abnormal calvari...	OMIM:175700
Autosomal Dominant Spastic Paraplegia Type 38	Urinary incontinence, Spinal cord lesion	ORPHA:171617
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral cryptorchidism, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosu...	ORPHA:544488
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Spastic Paraparesis And Deafness	Tremor, Hypogonadism, Spastic paraparesis	OMIM:312910
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Secondary Syringomyelia	Hyperintensity of MRI T2 signal of the spinal cord, Syringomyelia, Dysuria	ORPHA:99857
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Frontal bossing, Ventriculomegaly, Occipital encephalocele, Cerebellar vermis hypoplasia, Absent ...	ORPHA:397715
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Plagiocephaly, Lateral vent...	OMIM:617751
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, A...	OMIM:607317
Split Cord Malformation Type I	Diastomatomyelia	ORPHA:1671
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Spastic tetraplegia, Increased CSF lactate, Choreoathetosis, Dystonia, Spasticit...	OMIM:618238
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Developmental And Epileptic Encephalopathy 97	Tremor, Ventriculomegaly	OMIM:619561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Pachygyria, Hydroce...	OMIM:613153
1Q21.1 Microduplication Syndrome	Frontal bossing, Hydrocephalus, Hypertonia, Cryptorchidism	ORPHA:250994
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Hemiparesis, Fusio...	OMIM:617542
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Perisylvian...	OMIM:600118
Corpus Callosum Agenesis-Neuronopathy Syndrome	Turricephaly, Craniosynostosis, Microcephaly, Aqueductal stenosis, Hemiplegia/hemiparesis, Agenes...	ORPHA:1496
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, L...	OMIM:608629
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly	OMIM:618766
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Ataxia, Hydrocephalus, Babinski sign	ORPHA:73256
Autosomal Recessive Primary Microcephaly	Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul...	ORPHA:2512
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, D...	OMIM:614105
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Increased CSF homovanillic a...	OMIM:613135
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter mor...	ORPHA:352682
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Syringomyelia, Vesicourete...	ORPHA:140952
2,4-Dienoyl-Coa Reductase Deficiency	Incoordination, Ataxia, Clonus, Microcephaly, Hydrocephalus, Tetraplegia, Increased CSF lactate, ...	OMIM:616034
Alexander Disease Type I	Ataxia, Hydrocephalus, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Spasticit...	ORPHA:363717
Spastic Paraplegia 11, Autosomal Recessive	Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Babinski sign, S...	OMIM:604360
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Syringomyelia	ORPHA:261197
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Primary microcephaly, Partial agenesis of the corpus callosum, Vocal cord...	ORPHA:500144
Foix-Alajouanine Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Neurogenic bladder, Urinary incontinence, Mye...	ORPHA:79093
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of corpus callosum, ...	OMIM:616342
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Neurocutaneous Melanocytosis	Syringomyelia, Renal hypoplasia/aplasia	ORPHA:2481
Glutamine Deficiency, Congenital	Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Hypoplasia of the corpus callos...	OMIM:610015
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Cerebellar hypoplasia, Truncal at...	OMIM:615768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Cerebellar hypoplasia, Hydrocephalus, Type II lissencephaly, Ventriculomegaly	OMIM:614830
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasi...	OMIM:614219
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Microcephaly, Spasticity, Agenesis of corp...	OMIM:615286
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p...	OMIM:616171
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Cerebral calcification, Abn...	ORPHA:101110
Joubert Syndrome 20	Renal cyst	OMIM:614970
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Gliosis, Cerebellar hypoplasia, Pachygyria, A...	ORPHA:168486
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Gait ataxia, Lateral ventricl...	OMIM:618606
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Microhydranencephaly	Microcephaly, Spastic tetraplegia, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:605013
Glycine Encephalopathy 1	Agenesis of corpus callosum	OMIM:605899
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Craniosynostosis 3	Sagittal craniosynostosis, Partial agenesis of the corpus callosum, Left unicoronal synostosis, R...	OMIM:615314
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spastic tetraplegia, Dysm...	ORPHA:572798
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hydronephrosis	ORPHA:85285
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Syringomyelia, Nephroblasto...	ORPHA:314585
Autosomal Dominant Spastic Paraplegia Type 12	Urinary urgency, Urinary incontinence, Spinal cord lesion	ORPHA:100993
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Frontal bossing, Lateral ventricle dilatation, Multifocal cerebral white matt...	OMIM:600721
Glutaric Acidemia I	Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat...	OMIM:231670
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Frontal bossing, Agenesis of cerebellar vermis, Posterior fossa cyst at...	OMIM:220220
Vesicoureteral Reflux, X-Linked	Vesicoureteral reflux	OMIM:314550
Vesicoureteral Reflux 1	Vesicoureteral reflux	OMIM:193000
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Extra-ax...	OMIM:617669
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Hydrocephalus, Agenesis of corpus callosum, Craniosynostosis	ORPHA:380
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypertonia, Myoclonus, Cere...	ORPHA:3078
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Alexander Disease	Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Increased CSF protei...	OMIM:203450
Acalvaria	Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Calvarial s...	ORPHA:945
Developmental And Epileptic Encephalopathy 36	Microcephaly, Hydrocephalus, Abnormal pyramidal sign, Cerebral atrophy, Abnormality of extrapyram...	OMIM:300884
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Cerebral palsy, Poor gross motor coordination, Lateral ventricle d...	ORPHA:2148
Glutathionuria	Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Hemimegalencephaly	Focal cortical dysplasia, Cranial asymmetry, Hemimegalencephaly, Hemiparesis, Myoclonus, Hyperint...	ORPHA:99802
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Generalized dystonia, Parkinsonism, Spastic tetraparesis, Partial agenesis of the corpus callosum...	OMIM:619653
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Hyperintensity of cerebral white matter on MRI...	ORPHA:521406
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ...	ORPHA:464738
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Hydrocephalus, Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, P...	ORPHA:272
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive spastic paraplegia	ORPHA:521390
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly, Morning myocl...	ORPHA:2898
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Hogue-Janssen Syndrome 2	Microcephaly, Hydrocephalus, Gait ataxia, Plagiocephaly, Hypoplasia of the corpus callosum, Agene...	OMIM:616362
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Melanosis, Neurocutaneous	Syringomyelia	OMIM:249400
Aicardi-Goutieres Syndrome 4	Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Progressiv...	OMIM:610333
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia, Thin corpus callosum	OMIM:619651
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Foxg1 Syndrome	Choreoathetosis, Hyperkinetic movements, Myoclonus, Hypoplasia of the corpus callosum, Dystonia, ...	ORPHA:561854
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Clonus, Optic nerve hypoplasia, Type II lissen...	ORPHA:370959
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, ...	ORPHA:488635
Hsd10 Disease	Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Frontotemporal cerebral atrophy, Myoclon...	ORPHA:391417
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Agenesis of corpus callosum	OMIM:610498
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Ce...	OMIM:213200
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia	OMIM:600116
Contractures-Developmental Delay-Pierre Robin Syndrome	Syringomyelia, Hypospadias	ORPHA:436003
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Slc35A2-Cdg	Cerebral white matter atrophy, Spastic tetraparesis, Craniosynostosis, Microcephaly, Cortical dys...	ORPHA:356961
Baraitser-Winter Syndrome 2	Lissencephaly, Secondary microcephaly, Trigonocephaly, Pachygyria, Agenesis of corpus callosum, V...	OMIM:614583
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Increased CSF protein concentration, Tremor, Diffuse white matter abnormalities, Brachycephaly, L...	OMIM:218000
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Abnorma...	ORPHA:314632
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Spastic paraplegia, Abnormal pyramidal sign	OMIM:256850
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Tremor, Hypoplasia of the corpus callosum, Trigonocephaly, Spasticity, Cerebral cortical ...	OMIM:300983
Chiari Malformation Type Ii	Cervical myelopathy, Syringomyelia, Spina bifida	OMIM:207950
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Prune Belly Syndrome	Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ...	OMIM:614833
Neuronal Intranuclear Inclusion Disease	Ataxia, Tremor, CSF pleocytosis, Rigidity, Leukoencephalopathy, Increased CSF protein concentrati...	OMIM:603472
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Clonus, Involuntary movements, Reduced cerebral white matter volume, Opi...	OMIM:620352
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the ...	OMIM:164180
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syringomyelia	ORPHA:404451
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Microcephaly	OMIM:619278
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Coach Syndrome 2	Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Developmental And Epileptic Encephalopathy 65	Microcephaly, Cerebral atrophy, Plagiocephaly, Spasticity, Ventriculomegaly	OMIM:618008
6Q25 Microdeletion Syndrome	Plagiocephaly, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:251056
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia	OMIM:615996
Lissencephaly, X-Linked, 2	Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum, Decreased testicular size, Ve...	OMIM:300215
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Sporadic Fetal Brain Disruption Sequence	Microcephaly, Prominent occiput, Plagiocephaly, Spasticity, Cerebral cortical atrophy	ORPHA:1665
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Syringomyelia	ORPHA:137754
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Axial Osteomalacia	Renal cyst	OMIM:109130
Lateral Meningocele Syndrome	Neurogenic bladder, Tethered cord, Syringomyelia, Dural ectasia	OMIM:130720
Nasu-Hakola Disease	Cerebral calcification, Hydrocephalus, Chorea, Oculomotor apraxia, Spasticity, Cerebral cortical ...	ORPHA:2770
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vesicoureteral reflux, Syringomyelia, Abnormal bladder morphology, Hydronephrosis	ORPHA:453499
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Abnormal cerebrospinal fluid morphology, Tremor, Babinski ...	ORPHA:251282
Split Cord Malformation	Neurogenic bladder, Tethered cord, Hypospadias, Urinary incontinence, Detrusor sphincter dyssyner...	ORPHA:573278
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Frontal bossing, Craniosynostosis, Hydrocephalus, Hypoplasia of the corpus callosum, Dolichocephaly	ORPHA:1516
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Developmental And Epileptic Encephalopathy 1	Spastic tetraparesis, Microcephaly, Abnormal pyramidal sign, Plagiocephaly, Choreoathetosis, Hype...	OMIM:308350
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Septooptic Dysplasia	Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:182230
Congenital Myopathy 19	Renal atrophy, Hydronephrosis	OMIM:618578
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Paraparesis, Hyperintensity of cerebr...	ORPHA:2822
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Agenesis of corpus callosum	OMIM:250620
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Syringomyelia, Abnormal renal morphology	ORPHA:477817
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Ataxia, Plagiocephaly, Abnormal cerebral white matter morphology, Lateral ventri...	ORPHA:457279
Chromosome 6Q24-Q25 Deletion Syndrome	Frontal bossing, Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Dolichocephaly, Age...	OMIM:612863
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa...	OMIM:615924
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Pachygyria, Partial agenesis of the cor...	OMIM:304050
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Microcephaly	ORPHA:26
Autosomal Dominant Spastic Paraplegia Type 42	Spinal cord lesion	ORPHA:171863
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Syringomyelia, Vesicoureteral reflux, Hyd...	OMIM:616580
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Prominent occiput, Abnormal ...	ORPHA:89844
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Cerebral atrophy, ...	ORPHA:98762
Spondylocostal Dysostosis 5	Syringomyelia	OMIM:122600
Neuroferritinopathy	Caudate atrophy, Writer's cramp, Chorea, Focal dystonia, Abnormal caudate nucleus morphology, Par...	ORPHA:157846
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly	OMIM:109120
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Cryptorchidism, Brachycephaly, Hyp...	ORPHA:228390
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cavum septum pellucidum, M...	OMIM:619074
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Apraxia, Lewy bodies, Cerebr...	OMIM:607485
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Hypertonia, Hypoplasia of the corpus callosum, Cerebral palsy	OMIM:618914
X-Linked Lissencephaly With Abnormal Genitalia	Microcephaly, Cryptorchidism, Spasticity, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:452
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
4Q21 Microdeletion Syndrome	Frontal bossing, Tremor, Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238750
Pyruvate Dehydrogenase Deficiency	Frontal bossing, Cerebral palsy, Ataxia, Microcephaly, Tremor, Abnormal pyramidal sign, Aplasia/H...	ORPHA:765
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,...	OMIM:225790
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Luscan-Lumish Syndrome	Syringomyelia, Polycystic ovaries	OMIM:616831
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Microcephaly, Tremor, Brachycephaly, Lateral ventricle dilatation,...	OMIM:619229
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Tethered cord, Syringomyelia	ORPHA:404473
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Cryptorchidism, Dysgenesis of the basal ganglia, Babinski sign, Lissencephaly, Cerebellar hypopla...	OMIM:620316
Williams-Beuren Region Duplication Syndrome	Speech apraxia, Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation te...	OMIM:609757
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Dystonia 28, Childhood-Onset	Torticollis, Microcephaly, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spas...	OMIM:617284
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Biemond Syndrome Type 2	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:141333
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Ventriculomegaly	ORPHA:324416
Pontocerebellar Hypoplasia, Type 11	Ataxia, Microcephaly, Hypoplasia of the pons, Poor coordination, Limb ataxia, Cerebellar hypoplas...	OMIM:617695
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Developmental Delay, Language Impairment, And Ocular Abnormalities	Tethered cord, Hydronephrosis	OMIM:620141
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Spastic tetraplegia	OMIM:300886
Hyperphenylalaninemia, Bh4-Deficient, C	Cerebral calcification, Microcephaly, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Distal Deletion 10Q	Frontal bossing, Ataxia, Clonus, Craniosynostosis, Microcephaly, Brachycephaly, Poor fine motor c...	ORPHA:96148
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri...	OMIM:607196
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Spinocerebellar Ataxia, Autosomal Recessive 13	Dilated fourth ventricle, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdia...	OMIM:614831
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Spina bifida, Pancreatic cysts, Dilatation of the renal ...	OMIM:274000
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, T2...	ORPHA:25
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi...	OMIM:617397
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Bilateral cryptorchidism, Partial agenesis of the corpus ...	ORPHA:434179
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w...	OMIM:620075
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Spinal dysraphism, Micropenis, Hydronephrosis	ORPHA:1926
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Tethered cord, Chordee, Syringomyelia	OMIM:616728
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Craniosynostosis, Spastic tetraparesis, Cryptorchidism, Hydrocephalus, Brachycephal...	ORPHA:171839
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Basal ganglia calcification, Abnormal pyramidal sign, Bra...	OMIM:213600
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Plagiocephaly, Colpocephaly, Cerebellar hypoplasia, Polymicrogyria, Midface retrusion	OMIM:618731
Mucolipidosis Iv	Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly	OMIM:252650
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Focal T2 hypointense basal ganglia lesion, Increased CSF lactate...	ORPHA:139485
Ritscher-Schinzel Syndrome 4	Ataxia, Cryptorchidism, Chorea, Brachycephaly, Plagiocephaly, Mild fetal ventriculomegaly, Atheto...	OMIM:619435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebella...	OMIM:613155
Pontocerebellar Hypoplasia, Type 7	Ataxia, Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Spastic paraplegia, Cerebral atrop...	OMIM:614969
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
4H Leukodystrophy	Ataxia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Tre...	ORPHA:289494
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Frontal bossing, Microcephaly, Hydrocephalus, Simplified gyral patte...	OMIM:615219
Developmental And Epileptic Encephalopathy 49	Frontal bossing, Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasci...	OMIM:617281
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Spina bifida occulta, Hydronephrosis	OMIM:618060
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ...	OMIM:616819
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly...	OMIM:615249
Arnold-Chiari Malformation Type I	Myelopathy, Syringomyelia, Urinary incontinence	ORPHA:268882
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Postural tremor, Hydrocephalus, Babinski sign, Vocal cord paralysis, Hand tremor, Poor fine motor...	ORPHA:99947
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypoplasia, Hypoplasia of ...	OMIM:610185
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Joubert Syndrome 18	Renal cyst, Horseshoe kidney	OMIM:614815
Linear Skin Defects With Multiple Congenital Anomalies 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Microcephaly, Spastic paraplegia, Brachycephaly, Dysmetria, Gait ataxia, Cerebral atrophy, Hypopl...	OMIM:615031
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Biparietal narrowing,...	ORPHA:220497
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski...	OMIM:600363
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysm...	ORPHA:1170
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Cerebral atrophy, Increased CSF lactate, Choreoathetosis, Dystonia, Hypoglycorrha...	OMIM:612126
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Acromelic Frontonasal Dysplasia	Encephalocele, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Choroid plexus cyst, B...	ORPHA:1827
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Spinal cord compression, Abnormality of the ureter, Hypospadias	ORPHA:2522
Aicardi-Goutieres Syndrome 6	Cerebral calcification, Microcephaly, Tremor, CSF pleocytosis, Rigidity, Increased CSF interferon...	OMIM:615010
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus, Scaphocephaly, Brachyceph...	ORPHA:459061
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Microcephaly, Tremor, Chorea, Babinski sign, Abnormal pyrami...	ORPHA:397946
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebellar hypoplasia, Cerebr...	ORPHA:33445
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Childhood-Onset Spasticity With Hyperglycinemia	Spinal cord lesion	ORPHA:401866
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Spastic tetraparesis, Microcephaly, Basal ganglia calcification, Spastic ...	OMIM:619487
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Abno...	ORPHA:163961
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Bronchogenic Cyst	Syringomyelia	ORPHA:2357
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Microcephaly, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, ...	OMIM:261640
Baraitser-Winter Syndrome 1	Microcephaly, Cryptorchidism, Lissencephaly, Trigonocephaly, Pachygyria, Agenesis of corpus callo...	OMIM:243310
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Hypothalamic hamartoma	ORPHA:649929
Temtamy Syndrome	Frontal bossing, Thick corpus callosum, Hypertonia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218340
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Hypoplasia of the corpus call...	OMIM:617916
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly	ORPHA:466688
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Cog5-Cdg	Cerebral white matter atrophy, Diffuse cerebral atrophy, Microcephaly, Cryptorchidism, Lateral ve...	ORPHA:263487
Basilar Impression, Primary	Syringomyelia, Abnormal cervical myelogram	OMIM:109500
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Periventricular leukomalacia, Microcephaly	OMIM:618302
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Saul-Wilson Syndrome	Spinal cord compression, Syringomyelia	OMIM:618150
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia...	OMIM:616900
Intellectual Developmental Disorder, Autosomal Dominant 65	Turricephaly, Ataxia, Noncommunicating hydrocephalus, Clumsiness, Agenesis of corpus callosum	OMIM:619320
Czeizel-Losonci Syndrome	Spina bifida, Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Spina ...	ORPHA:2437
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Microcephaly, Gait ataxia, Azoospermia, Dolichocephaly, Agenesis of cor...	ORPHA:1446
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ga...	OMIM:304340
Leukoencephalopathy With Calcifications And Cysts	Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl...	ORPHA:542310
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
1Q44 Microdeletion Syndrome	Frontal bossing, Microcephaly, Hydrocephalus, Biparietal narrowing, Agenesis of corpus callosum, ...	ORPHA:238769
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia ...	ORPHA:2524
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platybasia, Frontal bossing, Cloverleaf skull, Agenesis of corpus callosum	ORPHA:93267
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Gabriele-De Vries Syndrome	Dolichocephaly, Tremor, Cryptorchidism, Cortical dysplasia, Lateral ventricle dilatation, Dystonia	OMIM:617557
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of...	OMIM:615181
Lateral Meningocele Syndrome	Syringomyelia, Dural ectasia	ORPHA:2789
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Cerebral atrophy, Lateral ventricle d...	OMIM:611209
Crouzon Syndrome	Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Multiple suture craniosynostosis, Ce...	ORPHA:207
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum, Brachycephaly, Midface retrusion	OMIM:616854
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Megalencephaly, Hydrocephalus, Thick corpus callosum, Hypoplasia of the corpus c...	OMIM:603387
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Abnormal cerebral white matter morphology, Myoclonus, Truncal ataxia	OMIM:618587
Yuan-Harel-Lupski Syndrome	Syringomyelia	OMIM:616652
Bresek Syndrome	Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, Plagiocephaly, Neonatal deat...	ORPHA:85284
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Biparietal narrowing,...	ORPHA:220493
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism	ORPHA:2183
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Thin corpus callosum, Cerebral atrophy	OMIM:616521
Weaver Syndrome	Flat occiput, Absent septum pellucidum, Cryptorchidism, Slurred speech, Poor fine motor coordinat...	OMIM:277590
Gangliocytoma	Syringomyelia, Spinal cord tumor	ORPHA:251937
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Frontal bossing, Cerebellar vermis hypoplasia, Microcephaly, Plagiocephaly, Thin corpus callosum,...	OMIM:619720
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Gliosis, Cerebellar hypoplas...	OMIM:214150
Kleefstra Syndrome Due To 9Q34 Microdeletion	Flat occiput, Absent septum pellucidum, Microcephaly, Cryptorchidism, Brachycephaly, Subcortical ...	ORPHA:96147
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Microcephaly, Tremor, Rigidity, Head titubation, Cerebral atrophy, Gait a...	OMIM:618877
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ...	OMIM:617145
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad...	ORPHA:79403
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Cerebellar hypoplas...	OMIM:618476
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Frontonasal Dysplasia 1	Cranium bifidum occultum, Agenesis of corpus callosum, Anterior basal encephalocele, Pericallosal...	OMIM:136760
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar vermis hypoplasia, Tremor, Rigidity, Dysmetria, Gait ataxia, Hypoplasia of the corpus ...	OMIM:618090
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Okamoto Syndrome	Tethered cord, Urinary incontinence, Unilateral renal hypoplasia, Syringomyelia, Ureteropelvic ju...	ORPHA:2729
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder	ORPHA:2547
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Aplasia/Hypoplasia of the cerebellum	ORPHA:93262
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callo...	ORPHA:99742
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Isolated Exencephaly	Anterior pituitary hypoplasia, Abnormal calvaria morphology, Holoprosencephaly, Posterior pituita...	ORPHA:563612
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly	OMIM:602501
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Microcephaly, Tremor, Cryptorchidism, Abnormal cerebral white matte...	OMIM:300957
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Syringomyeli...	OMIM:265380
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter	ORPHA:1035
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph...	OMIM:180860
Bainbridge-Ropers Syndrome	Microcephaly, Cryptorchidism, Scaphocephaly, Lateral ventricle dilatation, Hypertonia, Hypoplasia...	OMIM:615485
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Spinal cord tumor, Nephrolithiasis, Syringomyeli...	ORPHA:353281
Combined Oxidative Phosphorylation Deficiency 24	Agenesis of corpus callosum, Gliosis, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616239
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Microcephaly	OMIM:618346
Krabbe Disease	Diffuse cerebral atrophy, Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spasticity...	OMIM:245200
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V...	ORPHA:93930
Pontocerebellar Hypoplasia, Type 10	Syringomyelia	OMIM:615803
Hajdu-Cheney Syndrome	Multiple renal cysts, Syringomyelia, Hypospadias	ORPHA:955
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Holoprosencephaly 14	Frontal bossing, Ventriculomegaly, Absent septum pellucidum, Proboscis, Alobar holoprosencephaly,...	OMIM:619895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Frontal bossing, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Pachygyria...	OMIM:614643
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Syringomyelia, Myelitis	ORPHA:1320
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria, Megalencephaly	ORPHA:83473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu...	OMIM:615287
Fg Syndrome 3	Agenesis of corpus callosum	OMIM:300406
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Hydronephrosis	OMIM:222300
19P13.13 Microdeletion Syndrome	Syringomyelia	ORPHA:357001
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Spinocerebellar Ataxia With Epilepsy	Cerebral infarct, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokines...	ORPHA:254881
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Microcephaly, Tremor, Hypertonia, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619556
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, T2 hypointense basal gang...	ORPHA:97355
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal occipital bone morphology, Hypoplasia of the pons, Cortical dysplasia, Abnormal pyramida...	ORPHA:468631
Muscle-Eye-Brain Disease	Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Holoprosencephaly, Aplasia/Hypopl...	ORPHA:588
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Frontal bossing, Hydrocephalus	ORPHA:2181
Congenital Toxoplasmosis	Hydrocephalus, Cerebral calcification, Ventriculomegaly, Microcephaly	ORPHA:858
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Iron accumulation in su...	ORPHA:329284
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Gorlin Syndrome	Frontal bossing, Cerebral calcification, Hypogonadotropic hypogonadism, Cryptorchidism, Hydroceph...	ORPHA:377
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Cerebral atrophy, My...	ORPHA:79263
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Cerebral palsy, Ataxia, Microcephaly, Hydrocephalus, Plagiocephaly, Colpocephaly, Periventricular...	OMIM:619833
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Microcephaly, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Cavitation of the basal ganglia, Tremor, Rigidity, Chorea, ...	OMIM:606159
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign, Dysmetria, Hypopla...	OMIM:607694
Classic Galactosemia	Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu...	ORPHA:79239
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Decreased CSF ...	OMIM:619911
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Cryptorchidism, H...	ORPHA:899
Penile Agenesis	Urethral atresia, male, Hydroureter, Atrophy of the spinal cord, Fetal pyelectasis, Bilateral ren...	ORPHA:49
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,...	OMIM:620001
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Tremor, Cryptorchidism, Cortical dysplasia, Simplified gyral pattern, Gait ataxia, Abnormal cereb...	OMIM:300354
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism	OMIM:601794
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s...	ORPHA:158684
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation, Abnormal caudate nucleus morphology, Primary m...	ORPHA:293725
Epidermal Nevus Syndrome	Spinal cord compression, Atrophy of the spinal cord, Spinal cord tumor, Polycystic kidney dysplasia	ORPHA:35125
Curry-Jones Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Craniosynostosis	ORPHA:1553
Iniencephaly	Syringomyelia, Renal agenesis, Spina bifida, Spinal dysraphism	ORPHA:63259
Temple Syndrome	Frontal bossing, Hydrocephalus, Decreased response to growth hormone stimulation test, Cryptorchi...	ORPHA:254516
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Microcephaly, Brachycephaly, Hypoplasia of the corpus callosum, Spasticity, Ventriculomegaly	OMIM:300958
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Trisomy 13	Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis	ORPHA:3378
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hemiplegia/hemiparesis, Hydrocephalus, Cryptorchidism, Aplasia/Hypoplasia of th...	ORPHA:1647
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Mosaic Variegated Aneuploidy Syndrome 1	Hypodysplasia of the corpus callosum, Microcephaly, Cryptorchidism, Hydrocephalus, Brachycephaly,...	OMIM:257300
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva...	OMIM:620103
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy	ORPHA:276183
Mosaic Trisomy 1	Frontal bossing, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasi...	ORPHA:1692
L1 Syndrome	Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Spasticity	ORPHA:275543
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, Myoclonus, Hypoplasia of the corpus callosum, Spasticity	OMIM:616494
Recombinant Chromosome 8 Syndrome	Hydronephrosis	OMIM:179613
Desmosterolosis	Frontal bossing, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Rigidity, Hy...	ORPHA:35107
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Ataxia, Increased CSF alanine concentration, Tremor, Increased CSF...	ORPHA:3008
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Babinski sign, Cerebral atr...	OMIM:615802
Joubert Syndrome 37	Micropenis, Hydronephrosis	OMIM:619185
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618619
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hydroceph...	OMIM:253800
Trisomy 1Q	Frontal bossing, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosu...	ORPHA:261344
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Parietal foramina, Cryp...	OMIM:603671
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Hydrolethalus	Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Anencephaly, Agenesis of corpus callosum	ORPHA:2189
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cerebral atrophy, Leuko...	OMIM:617710
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Aplasia/Hypoplasia of...	ORPHA:475
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hyp...	OMIM:613001
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities	OMIM:619737
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Frontal bossing, Lateral ventricle dilatation, Small pituitary gland, Hypoplasia of the corpus ca...	OMIM:619479
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Microcephaly, Tremor, Babinski sign, Scissor gait, ...	OMIM:617013
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Craniosynostosis, Microcephaly, Cryptorchidism, Cerebellar hypoplasia, Hy...	OMIM:301056
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia	OMIM:614922
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Developmental And Epileptic Encephalopathy 84	Microcephaly, Chorea, Babinski sign, Opisthotonus, Plagiocephaly, Dystonia, Spasticity, Ventricul...	OMIM:618792
Duplication Of The Pituitary Gland	Encephalocele, Lower limb spasticity, Microcephaly, Abnormal pituitary gland morphology, Abnormal...	ORPHA:314621
Lopes-Maciel-Rodan Syndrome	Caudate atrophy, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Bradykinesia, Ankle clonus, H...	OMIM:617435
Apert Syndrome	Frontal bossing, Cloverleaf skull, Absent septum pellucidum, Hydrocephalus, Acrobrachycephaly, Br...	ORPHA:87
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Multiple Osteochondromas	Tethered cord, Spinal cord compression, Cervical myelopathy, Syringomyelia, Urinary retention	ORPHA:321
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Global brain ...	OMIM:619738
Thoraco-Abdominal Enteric Duplication	Diastomatomyelia	ORPHA:1759
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Cutis Laxa, Autosomal Recessive, Type Iib	Frontal bossing, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Midface retrusion	OMIM:612940
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Microcephaly, Tremor, Babinski sign, Spastic para...	OMIM:300055
Thanatophoric Dysplasia Type 2	Encephalocele, Frontal bossing, Cloverleaf skull, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:990
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Diff...	ORPHA:282166
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Alexander Disease	Frontal bossing, Cerebral calcification, Ataxia, Clonus, Megalencephaly, Aqueductal stenosis, Tre...	ORPHA:58
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Focal Facial Dermal Dysplasia Type Iv	Hemiparesis, Hydrocephalus, Microcephaly	ORPHA:398189
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Agenesis of...	ORPHA:1812
Holoprosencephaly 7	Frontal bossing, Flat occiput, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial age...	OMIM:610828
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Hypergonadotropic hypogonadism, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
22Q11.2 Duplication Syndrome	Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Decreased fertility, Fasciculations, Testicular atrophy	OMIM:313200
Chromosome 14Q11-Q22 Deletion Syndrome	Lateral ventricular asymmetry, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Microcep...	OMIM:613457
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Cerebral white matter atrophy, Ataxia, Tremor, Rigidity, Myelopathy, Cerebral edema,...	OMIM:617186
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Laryngeal dystonia, Small basal ganglia, Self...	ORPHA:2388
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydronephrosis	OMIM:220210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Cerebral atrophy, Clumsiness, Poor fine mo...	ORPHA:137898
Chromosome 6Pter-P24 Deletion Syndrome	Frontal bossing, Hydrocephalus, Brachycephaly, Agenesis of corpus callosum, Midface retrusion, Da...	OMIM:612582
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Hydrocephalus, Midface retrusion, Ventriculomegaly	ORPHA:2655
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Halperin-Birk Syndrome	Spastic tetraplegia, Colpocephaly, Hypertonia, Pseudobulbar paralysis, Agenesis of corpus callosu...	OMIM:618651
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Hypertonia, Skull asymmetry, Lissencephaly, Secondary microcephaly...	OMIM:612938
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the ureter	ORPHA:3409
Muenke Syndrome	Plagiocephaly, Hydrocephalus, Coronal craniosynostosis, Brachycephaly	ORPHA:53271
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Microcephaly, Lateral ventricle dilatation, Hypertonia, Hypoplasia ...	OMIM:618367
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Craniosynostosis, Brachycephaly, Agenesis of corpus callosum	OMIM:613174
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis	ORPHA:261290
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Primary amenorrhea, Cryptorchidism, Agenesis of corpus callosum, Hypogonadotropic hypogonadism	OMIM:147950
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Noonan Syndrome 14	Cryptorchidism, Lateral ventricle dilatation	OMIM:619745
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Frontal bossing, Hydrocephalus, Coronal craniosynostosis, Midface re...	OMIM:112240
Emanuel Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter mor...	ORPHA:96170
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Cerebral calcification, Absent septum pellucidum, Paralysis, Rigidity,...	ORPHA:2396
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Abnormal pyramidal tract morphology, Babinski sign, Spastic paraplegia, Cerebral atrophy,...	ORPHA:83629
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Appendicular spasticity, Frontal bossing, Partial agenesis of the corpus callosum, Apraxia, Oculo...	OMIM:620250
Femoral-Facial Syndrome	Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1988
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lower limb spasticity, Absent septum pellucidum, Microcephaly, Prominent occiput, Abnormal cerebr...	OMIM:300868
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Syri...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Syri...	ORPHA:353277
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Microcephaly, Clumsiness	OMIM:300558
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Increased CSF phenylalanine concentration, Hyperkinetic moveme...	OMIM:233910
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:1770
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, D...	OMIM:614381
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Microcephaly, Tremor, Babinski sign, Spastic paraplegia, Hypoplasia of the corpus callosum	ORPHA:477673
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst	OMIM:602579
Apert Syndrome	Absent septum pellucidum, Sagittal craniosynostosis, Craniosynostosis, Megalencephaly, Cryptorchi...	OMIM:101200
Agnathia-Otocephaly Complex	Agenesis of corpus callosum, Holoprosencephaly	OMIM:202650
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Intellectual Developmental Disorder, Autosomal Recessive 65	Cryptorchidism, Partial agenesis of the corpus callosum, Gait ataxia, Hypoplasia of the corpus ca...	OMIM:618109
46,Xy Sex Reversal 4	Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:154230
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Ataxia, Involuntary ...	ORPHA:506
Webb-Dattani Syndrome	Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis	OMIM:615926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Type II lissencephaly, Microcephaly, Hydrocephalus, Partial absence of cerebellar ...	OMIM:613150
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Frontal bossing, Decreased response to growth hormone stimulation test, Microcephaly, Colpocephal...	OMIM:617260
Edinburgh Malformation Syndrome	Frontal bossing, Hydrocephalus, Hypertonia	ORPHA:1895
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Waisman Syndrome	Frontal bossing, Resting tremor, Parkinsonism, Megalencephaly, Rigidity, Cogwheel rigidity, Brady...	OMIM:311510
Curry-Jones Syndrome	Ventriculomegaly, Unicoronal synostosis, Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly...	OMIM:601707
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Bradykinesia, Dystonia, Limb h...	ORPHA:70594
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Cryptorchidism, Brachycephaly, Secondary microcephaly, Hypoplasia o...	OMIM:620073
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Holoprosencephaly,...	OMIM:612651
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves...	ORPHA:2237
Suleiman-El-Hattab Syndrome	Hydronephrosis	OMIM:618950
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperintens...	ORPHA:481152
Kury-Isidor Syndrome	Hydronephrosis	OMIM:619762
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Anterior pituitary hypoplasia, Absent septum pellucidum, Optic nerve hypop...	ORPHA:3157
Osteogenesis Imperfecta, Type Xvii	Syringomyelia	OMIM:616507
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Plagiocephaly, Hypoplasia of the brains...	OMIM:617822
Leukodystrophy, Hypomyelinating, 6	Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Microcephaly, Cryptorchidism, Spastic tetraplegia, Tetraplegia, Agenesis of corpus callosum	OMIM:300004
Prader-Willi Syndrome Due To Translocation	Flat occiput, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation tes...	ORPHA:177907
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Cerebellar Ataxia-Hypogonadism Syndrome	Ataxia, Hypogonadotropic hypogonadism, Hemiplegia/hemiparesis, Decreased fertility, Brachycephaly...	ORPHA:1173
Trisomy 20P	Hypospadias, Abnormality of the kidney, Spina bifida, Abnormality of the ureter, Abnormal localiz...	ORPHA:261318
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Cryptorchidism, Plagiocephal...	ORPHA:363528
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Decreased response to growth hormone stimulatio...	OMIM:609053
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum, Cerebellar hypoplasia	OMIM:618810
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
Desmosterolosis	Frontal bossing, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Aplasia/Hy...	OMIM:602398
Cerebral Visual Impairment	Cerebral palsy, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Clumsiness, Abnormal cerebra...	ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Pac...	OMIM:236670
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Horsesh...	ORPHA:93929
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Immunodeficiency 49	Agenesis of corpus callosum, Eosinophilia, Reduced cerebral white matter volume	OMIM:617237
Birk-Landau-Perez Syndrome	Microcephaly, Limb ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia, Pachygyria, Agenesis of...	OMIM:617595
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o...	ORPHA:99027
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Spast...	OMIM:616449
Osteogenesis Imperfecta	Hypercalciuria, Syringomyelia, Nephrolithiasis	ORPHA:666
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Pallister-Hall-Like Syndrome	Occipital encephalocele, Microcephaly, Hydrocephalus, Hypothalamic hamartoma, Anterior hypopituit...	OMIM:241800
Igg4-Related Aortitis	Hydronephrosis	ORPHA:449400
Crouzon Syndrome	Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost...	OMIM:123500
16P13.11 Microdeletion Syndrome	Microcephaly, Cryptorchidism, Hypertonia, Holoprosencephaly, Agenesis of corpus callosum, Ventric...	ORPHA:261236
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Microcephaly, Tremor, Hypoplastic anterior limbs of the internal capsule, Chorea,...	OMIM:615673
Basal Cell Nevus Syndrome 2	Frontal bossing, Hydrocephalus, Calcification of falx cerebri	OMIM:620343
Warburg Micro Syndrome 3	Lower limb spasticity, Microcephaly, Spastic tetraplegia, Brachycephaly, Ankle clonus, Cerebral c...	OMIM:614222
Thanatophoric Dysplasia, Type I	Frontal bossing, Cloverleaf skull, Hydrocephalus, Temporal lobe dysplasia, Neonatal death, Midfac...	OMIM:187600
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoencephalopathy, Bradykinesi...	OMIM:614924
Vici Syndrome	Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr...	ORPHA:1493
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tethered cord, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydrone...	OMIM:618460
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/...	ORPHA:1908
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Microcephaly, Tremor, Head...	OMIM:312080
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Megalencephaly, Hydrocephalus, Irregular menstruation, Hypoplasia of the corpus ...	OMIM:616482
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micropenis, Hypospadias, Hydronephrosis	OMIM:616897
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia	ORPHA:110
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Tremor, Cranial hyperostosis...	ORPHA:457240
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol...	OMIM:608836
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Corpus callosum atrophy, Poor gross motor coordi...	ORPHA:228360
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Noonan Syndrome 4	Ureteral duplication, Hydronephrosis	OMIM:610733
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Prominent occiput, Small cerebral cortex, Plagiocephaly, Hypoplasia of the corpus c...	OMIM:617360
Spermatogenic Failure 14	Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M...	OMIM:615842
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Multiple Sulfatase Deficiency	Ataxia, Hydrocephalus, Cerebral atrophy, Abnormal periventricular white matter morphology, Spasti...	OMIM:272200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:615630
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:568
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Dolichocephaly	OMIM:310400
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Po...	OMIM:619775
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication	ORPHA:96169
Temple Syndrome	Frontal bossing, Hydrocephalus, Decreased testicular size, Cryptorchidism	OMIM:616222
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Frontal bossing, Microcephaly, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenes...	OMIM:619512
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Linear Nevus Sebaceus Syndrome	Frontal bossing, Ventriculomegaly, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia...	ORPHA:2612
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Frontal bossing, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Ventriculom...	ORPHA:60040
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Zaki Syndrome	Renal agenesis, Hydronephrosis	OMIM:619648
Cole-Carpenter Syndrome 2	Frontal bossing, Turricephaly, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostos...	OMIM:616294
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Frontal bossing, Agenesis of corpus callosum, Cryptorchidism	OMIM:618929
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Frontal bossing, Turricephaly, Megalencephaly, Microcephaly, Hydrocephalus, Plagiocephaly, Hydroc...	OMIM:613603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the corpus cal...	OMIM:616538
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias...	ORPHA:2473
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Aredyld Syndrome	Abnormality of the ureter	ORPHA:1133
47,Xyy Syndrome	Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Oligoz...	ORPHA:8
Beare-Stevenson Cutis Gyrata Syndrome	Cloverleaf skull, Flat occiput, Craniosynostosis, Hydrocephalus, Agenesis of corpus callosum, Mid...	OMIM:123790
Infantile Sialic Acid Storage Disease	Hydrocephalus, Cerebral atrophy	OMIM:269920
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ...	OMIM:620113
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Hydronephrosis	ORPHA:364028
Melnick-Needles Syndrome	Vesicoureteral reflux, Hydronephrosis	ORPHA:2484
Fumarase Deficiency	Frontal bossing, Microcephaly, Choroid plexus cyst, Cerebral atrophy, Hypoplasia of the brainstem...	OMIM:606812
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Pelvic kidney, Vesicoureteral reflux, Crossed fused renal...	OMIM:300707
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Oeis Complex	Duplicated collecting system, Tethered cord, Hydroureter, Renal agenesis, Epispadias, Vesicovagin...	OMIM:258040
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Ce...	OMIM:243605
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Cerebellar hypopla...	OMIM:264480
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:2318
Von Hippel-Lindau Syndrome	Pancreatic cysts, Spinal hemangioblastoma, Renal cell carcinoma, Multiple renal cysts, Epididymal...	OMIM:193300
Keppen-Lubinsky Syndrome	Spastic tetraparesis, Microcephaly, Opisthotonus, Lateral ventricle dilatation, Hypertonia	OMIM:614098
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Peho Syndrome	Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral cortical atrophy, Biparietal narrowing,...	ORPHA:2836
Oxoglutaric Aciduria	Hydrocephalus, Hypertonia, Ataxia	ORPHA:31
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Secondary microc...	ORPHA:357058
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Vesicoureteral...	OMIM:614080
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis	OMIM:620327
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the...	ORPHA:314679
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Decreased response to growth hormo...	ORPHA:1855
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Spina bifida, Abnorm...	ORPHA:322
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Radio-Tartaglia Syndrome	Frontal bossing, Ataxia, Microcephaly, Tremor, Agenesis of corpus callosum	OMIM:619312
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ventriculomegaly, Ataxia, Microcephaly, Hydrocephalus, Hemiparesis, Abnorm...	ORPHA:395
Marden-Walker Syndrome	Microcephaly, Cryptorchidism, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebe...	OMIM:248700
Brain-Lung-Thyroid Syndrome	Dystonia, Ataxia, Incoordination, Involuntary movements, Microcephaly, Chorea, Clumsiness, Choreo...	ORPHA:209905
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Intellectual Developmental Disorder, Autosomal Dominant 70	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the co...	OMIM:620157
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Prominent occiput, Hypoplasia of...	OMIM:618500
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Plagiocephaly, Hypoplasia...	ORPHA:457284
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Brachycephaly	OMIM:263520
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Hyperintensity of cerebral white matter on MRI, Dysme...	ORPHA:101
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney	ORPHA:1225
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Lowry-Maclean Syndrome	Craniosynostosis, Microcephaly, Bilateral cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of th...	ORPHA:2409
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Spasticity	ORPHA:1946
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope...	ORPHA:261494
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia	ORPHA:3301
Sotos Syndrome	Frontal bossing, Cryptorchidism, Partial agenesis of the corpus callosum, Poor coordination, Doli...	OMIM:117550
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:912
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebellar vermis, Hydrocephalus...	OMIM:614424
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph...	ORPHA:157
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microcephaly, Cryptorchidism, Anencephaly, Brachycephaly, Trigonocephaly, Agenesis...	OMIM:619148
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio...	OMIM:619869
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Methylcobalamin Deficiency Type Cble	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Lower limb hypertonia, Hy...	ORPHA:2169
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Hartsfield Syndrome	Craniosynostosis, Alobar holoprosencephaly, Microcephaly, Cryptorchidism, Gonadotropin deficiency...	OMIM:615465
Microphthalmia, Syndromic 3	Frontal bossing, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Optic nerve hypopl...	OMIM:206900
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc...	OMIM:619103
Joubert Syndrome 2	Encephalocele, Frontal bossing, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, ...	OMIM:608091
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Rhombencephalosynapsis	Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxia, Hydrocephalus, Fusion of the left a...	ORPHA:59315
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Spina bifida, Horseshoe kidney, Multiple renal cysts, Hydro...	ORPHA:99776
16Q24.3 Microdeletion Syndrome	Frontal bossing, Optic nerve hypoplasia, Cryptorchidism, Colpocephaly, Biparietal narrowing, Hypo...	ORPHA:261250
Spastic Paraplegia 9B, Autosomal Recessive	Microcephaly, Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Tetraplegia, Ps...	OMIM:616586
Micro Syndrome	Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney	ORPHA:2510
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Cerebellar hypoplasia, Hypoplasia of...	OMIM:300514
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus	ORPHA:2701
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Renal cyst, Horseshoe kidney	ORPHA:166035
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Eye of the tiger anomal...	OMIM:300894
Peroxisome Biogenesis Disorder 12A (Zellweger)	Microcephaly, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Cerebral atrophy	OMIM:614886
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Toriello-Carey Syndrome	Microcephaly, Cryptorchidism, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplas...	ORPHA:3338
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:2315
Neurooculorenal Syndrome	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Aqueductal stenosis, Cryptorchidism, P...	OMIM:620305
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Carpenter Syndrome 1	Spina bifida occulta, Hydronephrosis, Hydroureter	OMIM:201000
Holoprosencephaly 9	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Optic nerve...	OMIM:610829
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618872
Emanuel Syndrome	Torticollis, Microcephaly, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Hypoplasia of the cor...	OMIM:609029
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst	ORPHA:488618
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 22	Agenesis of corpus callosum, Microcephaly	OMIM:612337
Cleidocranial Dysplasia 1	Syringomyelia	OMIM:119600
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Pelvis-Shoulder Dysplasia	Hydronephrosis, Spina bifida	ORPHA:2839
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Pineal cyst, Posterior pla...	OMIM:615873
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis	ORPHA:457193
Osteopetrosis, Autosomal Recessive 5	Clonus, Microcephaly, Hydrocephalus, Cranial hyperostosis, Diffuse white matter abnormalities, Sp...	OMIM:259720
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Ventriculomegaly, Cerebellar vermis hypoplasia, Optic nerve hypop...	OMIM:605627
Tenorio Syndrome	Cerebral palsy, Hydrocephalus, Clumsiness, Cavum septum pellucidum, Cerebral cortical atrophy, Ve...	OMIM:616260
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Hypogonadotropic hypogonadism, Neoplasm of the ...	ORPHA:54595
Triploidy	Cryptorchidism, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holoprosen...	ORPHA:3376
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at...	OMIM:208540
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Frontal bossing, Periventricular leukomalacia, Optic nerve hypoplasia, Sagittal craniosynostosis,...	ORPHA:500150
Autosomal Recessive Spondylocostal Dysostosis	Spina bifida occulta, Hypospadias, Abnormality of the ureter	ORPHA:2311
Jaberi-Elahi Syndrome	Appendicular spasticity, Microcephaly, Tremor, Globus pallidus hypointensity on susceptibility-we...	OMIM:617988
3C Syndrome	Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:7
Tangier Disease	Syringomyelia	ORPHA:31150
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Hypointensity of cerebral white matter on...	ORPHA:845
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena...	OMIM:146510
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Hydrocephalus, Cerebellar hypoplasia	ORPHA:163966
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hydronephrosis	ORPHA:541423
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebell...	ORPHA:1454
Meckel Syndrome, Type 7	Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney...	OMIM:267010
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Acrania, Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, Colp...	OMIM:618820
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis, Hypoplasia of...	OMIM:612164
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Cloverleaf skull, Craniosynostosis, Cryptorchidism, Hydrocephalus, Dolichocephaly, ...	ORPHA:1555
Mohr-Tranebjaerg Syndrome	Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, ...	ORPHA:52368
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Hydronephrosis	OMIM:612513
Fg Syndrome Type 1	Optic nerve hypoplasia, Craniosynostosis, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of th...	ORPHA:93932
Marshall-Smith Syndrome	Frontal bossing, Absent septum pellucidum, Craniosynostosis, Optic nerve hypoplasia, Bilateral cr...	OMIM:602535
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia	OMIM:618975
Chromosome 17P13.1 Deletion Syndrome	Turricephaly, Diffuse cerebral atrophy, Spina bifida, Microcephaly, Hydrocephalus, Brachycephaly,...	OMIM:613776
Cystic Echinococcosis	Membranous nephropathy, Hepatic cysts, Renal cyst, Ovarian cyst	ORPHA:400
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Oligozoospermia	ORPHA:3000
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Dolichocephaly, Ventriculom...	OMIM:617866
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Microcephaly, Hydrocephalus, Cerebral atrophy, Hypoplasia of the corp...	OMIM:614576
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Vater/Vacterl Association	Renal dysplasia, Tethered cord, Hypospadias, Renal agenesis, Spina bifida, Ectopic kidney, Patent...	OMIM:192350
Fryns Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:2059
1Q21.1 Microdeletion Syndrome	Frontal bossing, Microcephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum	ORPHA:250989
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux, Spina bifida occulta, Hydronephrosis	OMIM:235510
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias	ORPHA:1358
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Hydrocephalus	OMIM:300863
Trichothiodystrophy	Craniosynostosis, Microcephaly, Cerebral dysmyelination, Cryptorchidism, Partial agenesis of the ...	ORPHA:33364
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar...	ORPHA:91350
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Plagiocephaly, Athetosis, Midface retrusion, Cerebral cortical atrophy	OMIM:239300
Cat Eye Syndrome	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney	OMIM:115470
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Chromosome 1P36 Deletion Syndrome, Distal	Frontal bossing, Microcephaly, Cryptorchidism, Hydrocephalus, Polymicrogyria, Brachycephaly, Leuk...	OMIM:607872
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Teebi-Shaltout Syndrome	Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Melas	Increased CSF protein concentration, Abnormal central motor function, Ataxia, Hypogonadotropic hy...	ORPHA:550
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Spastic tetraplegia, Hypertonia, Cerebellar hypoplasia, Agenesis of corpus callos...	ORPHA:96092
Dural Sinus Malformation	Ataxia, Parkinsonism, Myelopathy, Hydrocephalus, Poor coordination, Hemiparesis, Tetraparesis, Hy...	ORPHA:97339
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Hydrocephalus, Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynosto...	OMIM:207410
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Bradykinesia, ...	OMIM:137440
Parkinson Disease 21	Parkinsonism, Tremor, Rigidity, Bradykinesia, Lewy bodies	OMIM:616361
Lenz-Majewski Hyperostotic Dwarfism	Frontal bossing, Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Cryptor...	OMIM:151050
Microform Holoprosencephaly	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	ORPHA:280200
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Speech apraxia, Cranial asymmetry, Optic nerve hypoplasia, Unilateral cryptorchidism	ORPHA:137634
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Posterior fossa cyst at the fourth ventricle, Ab...	ORPHA:2356
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Hydrocephalus, Abnormal sperm motility, Ventriculomegaly	ORPHA:244
Microphthalmia, Syndromic 9	Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis	OMIM:601186
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Chordee, Agenesis of corpus ...	OMIM:309801
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Cerebral atrophy, Dysmetria, Titubation	OMIM:619405
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Microcephaly	OMIM:613330
Alagille Syndrome	Nephrotic syndrome, Spina bifida occulta, Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:52
Plasminogen Deficiency, Type I	Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Tarp Syndrome	Hydronephrosis, Horseshoe kidney	OMIM:311900
Pituitary Carcinoma	Spinal cord lesion	ORPHA:300385
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Hydronephrosis	OMIM:617798
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis	ORPHA:35173
Pfeiffer Syndrome	Hydrocephalus, Coronal craniosynostosis, Cloverleaf skull, Brachyturricephaly	OMIM:101600
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Japanese Encephalitis	Tremor, Opisthotonus, Choreoathetosis, Abnormal caudate nucleus morphology, Hypertonia, Respirato...	ORPHA:79139
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Impotence, Truncal...	OMIM:105210
B4Galt1-Cdg	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:79332
Albers-Schönberg Osteopetrosis	Frontal bossing, Hydrocephalus	ORPHA:53
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia	ORPHA:1861
Mosaic Trisomy 8	Vesicoureteral reflux, Hydronephrosis	ORPHA:96061
Smith-Magenis Syndrome	Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:819
14Q22Q23 Microdeletion Syndrome	Anterior pituitary hypoplasia, Cryptorchidism, Brachycephaly, Agenesis of corpus callosum, Ventri...	ORPHA:264200
Aicardi Syndrome	Microcephaly, Hemiplegia/hemiparesis, Partial agenesis of the corpus callosum, Plagiocephaly, Hyp...	ORPHA:50
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Trigonocephaly, Age...	OMIM:605039
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Porencephalic cyst, Hemiparesis, Hypertonia, Periventricular leukom...	ORPHA:974
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin...	ORPHA:449395
Pancreatic Agenesis-Holoprosencephaly Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly	ORPHA:556955
Thanatophoric Dysplasia Type 1	Frontal bossing, Hydrocephalus, Cloverleaf skull, Ventriculomegaly	ORPHA:1860
Aceruloplasminemia	Torticollis, Abnormal corpus striatum morphology, Ataxia, Parkinsonism, Involuntary movements, Tr...	ORPHA:48818
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Cranial hyperostosis, Facial paralysis	OMIM:259710
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micropenis, Hydronephrosis	OMIM:235255
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Takenouchi-Kosaki Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Musculocontractural Ehlers-Danlos Syndrome	Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney	ORPHA:2953
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity	OMIM:176500
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph...	OMIM:128100
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Scalp-Ear-Nipple Syndrome	Frontal bossing, Lateral ventricle dilatation, Calvarial skull defect	OMIM:181270
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Horseshoe kidney, Hydroneph...	ORPHA:2092
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis	OMIM:618454
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum, Poor coordination, Midface retrusion	ORPHA:420794
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Hydrocephalus, Irregular menstruation, Brachycephaly, Hypogonadism, Calvarial hyp...	OMIM:101800
Thakker-Donnai Syndrome	Hydronephrosis	ORPHA:1780
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,...	OMIM:168600
Griscelli Syndrome	Encephalocele, Hydrocephalus, Ataxia, Spasticity	ORPHA:381
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Micropenis, Abnormal renal morphology, Hydronephrosis	ORPHA:1655
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Gabriele-De Vries Syndrome	Dystonia, Decreased response to growth hormone stimulation test, Craniosynostosis, Tremor, Crypto...	ORPHA:506358
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Dextrocardia	Abnormal renal morphology, Abnormality of the ureter	ORPHA:1666
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Xp21 Deletion Syndrome	Spasticity, Agenesis of corpus callosum, Hypogonadotropic hypogonadism	ORPHA:261476
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Opitz-Kaveggia Syndrome	Frontal bossing, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Plagioce...	OMIM:305450
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k...	ORPHA:26791
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria	ORPHA:101000
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Sec...	OMIM:618056
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Neurofibrillary tangles, Parkinsonism with favorable response t...	ORPHA:199351
Monosomy 13Q34	Agenesis of corpus callosum, Microcephaly	ORPHA:96168
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis	OMIM:214100
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrea...	ORPHA:226307
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Cerebral white...	ORPHA:168577
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau...	ORPHA:369837
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Spinal cord compression, Syringomyelia	OMIM:271665
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Frontal bossing, Septo-optic dysplasia, Cerebellar vermis hypoplasia...	OMIM:619841
Osteopetrosis, Autosomal Recessive 1	Frontal bossing, Hydrocephalus, Facial paralysis, Craniosynostosis	OMIM:259700
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Cerebellar hypoplasia, Hypoplasia ...	OMIM:618590
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:217980
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Frontal bossing, Agenesis of corpus callosum	OMIM:309520
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:247262
Frontometaphyseal Dysplasia 1	Hydroureter, Hydronephrosis	OMIM:305620
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Frontal bossing, Craniosynostosis	ORPHA:1064
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Congenital Disorder Of Glycosylation, Type Iim	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia o...	OMIM:300896
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Monosomy 18Q	Microcephaly, Bilateral cryptorchidism, Hydrocephalus, Poor coordination, Diffuse white matter ab...	ORPHA:1600
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Cole-Carpenter Syndrome	Communicating hydrocephalus, Frontal bossing, Turricephaly, Midface retrusion	ORPHA:2050
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis	ORPHA:464311
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cryptorchidism, Macrogyria, Athetosis, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis ...	OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia	OMIM:214110
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha...	OMIM:301043
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Occipital meningocele, ...	OMIM:277170
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis	OMIM:618653
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Microcephaly, Cryptorchidism, Spastic paraplegia, Midface retrusion, Agenesis of corpus callosum,...	ORPHA:847
Lenz-Majewski Hyperostotic Dwarfism	Thickened calvaria, Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Cranial hyperostosis...	ORPHA:2658
Opitz Gbbb Syndrome	Craniosynostosis, Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Cryptorchidism, Hypo...	ORPHA:2745
Orofaciodigital Syndrome I	Frontal bossing, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Myelomeningocele, Poren...	OMIM:311200
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Ischemic stroke, Hypopituitarism	ORPHA:90065
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Koolen-De Vries Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis	OMIM:610443
Chromosome 13Q14 Deletion Syndrome	Frontal bossing, Absent septum pellucidum, Cryptorchidism, Holoprosencephaly, Hypoplasia of the c...	OMIM:613884
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Arachnoiditis	Hydrocephalus	ORPHA:137817
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Micropenis, Renal agenesis, Hypospadias, Hydronephrosis	OMIM:301040
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Cerebral atrophy, Increased CSF lactate, Hypertonia, Secondary microcephaly, Hypo...	OMIM:617248
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hypertonia, Ataxia	ORPHA:2720
6Q Terminal Deletion Syndrome	Abnormal cerebral cortex morphology, Dysmetria, Gait ataxia, Plagiocephaly, Abnormal cerebral whi...	ORPHA:75857
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Hydronephrosis	OMIM:608779
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis	ORPHA:254528
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Hydronephrosis	OMIM:300968
Craniofrontonasal Syndrome	Frontal bossing, Cryptorchidism, Brachycephaly, Hypoplasia of the corpus callosum, Coronal cranio...	OMIM:304110
Otopalatodigital Syndrome Type 2	Hydronephrosis, Hypospadias, Ureteral obstruction	ORPHA:90652
White-Kernohan Syndrome	Hydroureter, Hydronephrosis, Horseshoe kidney	OMIM:619426
Bohring-Opitz Syndrome	Microcephaly, Lower limb hypertonia, Hypoplasia of the corpus callosum, Trigonocephaly, Dandy-Wal...	ORPHA:97297
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Congenital Disorder Of Glycosylation, Type Ia	Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst	OMIM:212065
Tetrasomy 5P	Cerebellar hypoplasia, Pericallosal lipoma, Hydrocephalus, Midface retrusion	ORPHA:3309
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Clonus, Cerebral white matter hypoplasia, Cryptorchidism, Colpocephaly, Lower limb hypertonia, Ch...	ORPHA:477993
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp...	ORPHA:268810
Rabin-Pappas Syndrome	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasi...	OMIM:620155
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor...	OMIM:614298
Cysticercosis	Spinal arachnoid cyst, Spinal cord lesion	ORPHA:1560
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis	OMIM:619269
Whipple Disease	Ataxia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Erectile dysfunction	ORPHA:3452
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microcephaly, Primary amenorrhea, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,...	OMIM:619418
Congenital Alveolar Capillary Dysplasia	Hydronephrosis	ORPHA:210122
Medulloblastoma	Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit...	ORPHA:616
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Raine Syndrome	Cerebral calcification, Microcephaly, Hydrocephalus, Brachycephaly, Plagiocephaly, Neonatal death...	OMIM:259775
Opitz Gbbb Syndrome	Frontal bossing, Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Agenesis of corpus c...	OMIM:300000
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Cryptorchidism, Plagiocephaly, Colpocephaly, ...	OMIM:620083
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Congenital Sialidosis Type 2	Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Spasticity	ORPHA:93400
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Cerebral edema	OMIM:602481
Holoprosencephaly 1	Proboscis, Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis ...	OMIM:236100
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Hydronephrosis	OMIM:271520
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Renal duplication	OMIM:270420
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:444072
Congenital Disorder Of Glycosylation, Type It	Hydronephrosis	OMIM:614921
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts	OMIM:609180
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria, Ataxia	ORPHA:65285
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe...	OMIM:613254
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Dystonia, Cerebral calcification, Microcephaly, Tremor, Hemiple...	ORPHA:51
Peutz-Jeghers Syndrome	Ovarian cyst, Abnormality of the ureter, Bladder polyp	OMIM:175200
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis	ORPHA:464306
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Frontal bossing, Agenesis of corpus callosum, Microcephaly	OMIM:174300
21Q22.11Q22.12 Microdeletion Syndrome	Scaphocephaly, Agenesis of corpus callosum, Midface retrusion, Microcephaly	ORPHA:261323
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
1P31P32 Microdeletion Syndrome	Frontal bossing, Ventriculomegaly, Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum	ORPHA:401986
Congenital Myopathy 22A, Classic	Frontal bossing, Scaphocephaly, Normal pressure hydrocephalus, Neonatal death, Frequent falls	OMIM:620351
Semilobar Holoprosencephaly	Abnormal central motor function, Decreased response to growth hormone stimulation test, Proboscis...	ORPHA:220386
Alobar Holoprosencephaly	Abnormal central motor function, Decreased response to growth hormone stimulation test, Proboscis...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal central motor function, Decreased response to growth hormone stimulation test, Proboscis...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal central motor function, Decreased response to growth hormone stimulation test, Proboscis...	ORPHA:93924
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal...	OMIM:122470
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Mpdu1-Cdg	Renal cortical cysts	ORPHA:79323
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete...	ORPHA:280633
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Holoprosencephaly	Encephalocele, Frontal bossing, Flat occiput, Microcephaly, Cryptorchidism, Hydrocephalus, Chorea...	ORPHA:2162
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia...	OMIM:616546
Neonatal Lupus Erythematosus	Basal ganglia calcification, Hydrocephalus, Abnormal cerebral white matter morphology	ORPHA:398124
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Midface retrusion	OMIM:224400
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Hydrocephalus, Hypoplasia of the co...	OMIM:227646
Achondroplasia	Frontal bossing, Hydrocephalus, Parietal bossing	ORPHA:15
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the ureter	ORPHA:3253
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Alveolar Echinococcosis	Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst	ORPHA:284
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia	OMIM:606232
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Cryptorchidism, Hydrocephalus, Bicoronal synostosis	OMIM:619951
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microcephaly	OMIM:617244
Trisomy 18	Abnormality of the upper urinary tract, Hydronephrosis, Spina bifida	ORPHA:3380
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Kallmann Syndrome	Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Decreased fertility, ...	ORPHA:478
Aymé-Gripp Syndrome	Craniosynostosis, Cryptorchidism, Hydrocephalus, Brachycephaly, Plagiocephaly, Hypoplasia of the ...	ORPHA:1272
Erdheim-Chester Disease	Hydronephrosis, Renal insufficiency, Dysuria	ORPHA:35687
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Type II lissencephaly, Microcephaly, Hydrocephalus, Polymicrogyria, Aplasia/Hypoplasia of the cor...	OMIM:253280
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Bladder diverticulum,...	OMIM:129900
Frontometaphyseal Dysplasia	Hydronephrosis, Spina bifida occulta, Ureteral obstruction, Urethral stenosis	ORPHA:1826
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus, Dolichocephaly	ORPHA:2969
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2378
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Meningioma	Enlarged pituitary gland, Hemifacial spasm, Abnormal central motor function, Ataxia, Hypogonadotr...	ORPHA:2495
Monosomy 9P	Microcephaly, Cryptorchidism, Brachycephaly, Hypertonia, Trigonocephaly, Agenesis of corpus callo...	ORPHA:261112
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis	ORPHA:1896
Young-Onset Parkinson Disease	Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Dystonia, Spa...	ORPHA:2828
Alg9-Cdg	Hypoplasia of the bladder, Ureteral hypoplasia, Hepatic cysts, Abnormal renal artery morphology, ...	ORPHA:79328
Shprintzen-Goldberg Craniosynostosis Syndrome	Frontal bossing, Craniosynostosis, Microcephaly, Cryptorchidism, Hydrocephalus, Dolichocephaly, B...	OMIM:182212
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Spina bifida occulta, Hydronephrosis, Renal duplication	OMIM:267750
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Jacobsen Syndrome	Frontal bossing, Spina bifida, Cryptorchidism, Cerebral atrophy, Trigonocephaly, Pachygyria, Agen...	ORPHA:2308
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Torticollis, Spina bifida, Partial agenesis of the corpus callosum, Plagiocephal...	OMIM:619480
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Spina bifida	ORPHA:1393
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Holoprosencephaly 2	Proboscis, Alobar holoprosencephaly, Microcephaly, Holoprosencephaly, Cerebellar hypoplasia, Agen...	OMIM:157170
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261537
Kaposiform Lymphangiomatosis	Pancreatic cysts, Multiple renal cysts, Enlarged kidney	ORPHA:464329
3Mc Syndrome 1	Spina bifida occulta, Hydronephrosis	OMIM:257920
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi...	OMIM:266920
Distal Deletion 12Q	Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis	ORPHA:96149
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Decreased response to growth hormone stimulation test, Craniosynostosis, Testicul...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Decreased response to growth hormone stimulation test, Craniosynostosis, Testicul...	ORPHA:363958
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Male infertility	OMIM:244400
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus	OMIM:601499
Jacobsen Syndrome	Flat occiput, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Trigonocephaly, Spa...	OMIM:147791
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm...	ORPHA:289
Occipital Horn Syndrome	Hydronephrosis, Bladder diverticulum, Ureteral obstruction	OMIM:304150
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus, Microcephaly	ORPHA:1865
Tsh-Secreting Pituitary Adenoma	Tremor, Male hypogonadism, Periodic hypokalemic paresis, Hypogonadotropic hypogonadism, Decreased...	ORPHA:91347
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis	OMIM:269150
Craniofacioskeletal Syndrome	Hypospadias, Hydronephrosis	OMIM:300712
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Frontal bossing, Megalencephaly, Thick corpus callosum, Gait ataxia,...	OMIM:617011
Mend Syndrome	Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Midface retrusion, Dandy-Walker...	ORPHA:401973
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis	OMIM:229850
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Spina bifida occul...	ORPHA:500095
Mirage Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Paraplegia, Decreased testicular size	OMIM:617053
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis	ORPHA:900
Cardiofaciocutaneous Syndrome 1	Hydronephrosis	OMIM:115150
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Cloverleaf skull	ORPHA:93259
Achondroplasia	Frontal bossing, Hydrocephalus, Midface retrusion, Megalencephaly	OMIM:100800
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Renal cyst	OMIM:616300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Large basal ganglia, Agenesis of corpus callosum, Agenesis of cereb...	ORPHA:261552
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Cousin Syndrome	Hydronephrosis	OMIM:260660
Neu-Laxova Syndrome 1	Spina bifida, Cryptorchidism, Choroid plexus cyst, Stillbirth, Lissencephaly, Neonatal death, Cer...	OMIM:256520
Craniosynostosis And Dental Anomalies	Syringomyelia	OMIM:614188
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Duplication of renal pelvis, Ureteral duplication	ORPHA:457212
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Cryptorchidism, Decreased fertility, Adrenocortic...	ORPHA:168558
Baller-Gerold Syndrome	Turricephaly, Optic nerve hypoplasia, Sagittal craniosynostosis, Craniosynostosis, Hydrocephalus,...	OMIM:218600
Tarp Syndrome	Hydronephrosis, Horseshoe kidney	ORPHA:2886
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, A...	OMIM:249000
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Cryptorchidism, Decreased fertility, Adrenocortic...	ORPHA:289548
Kabuki Syndrome 1	Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Microcephaly	OMIM:147920
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Tethered cord, Hypospadias, Urinary incontinence, Renal agenesis, Grade III v...	OMIM:619522
Cardiofaciocutaneous Syndrome	Hydronephrosis	ORPHA:1340
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst	OMIM:615636
Intellectual Developmental Disorder, Autosomal Dominant 42	Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder	OMIM:616973
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Scaphocephaly, Craniosynostosis	OMIM:616914
Dubowitz Syndrome	Spina bifida occulta, Hypospadias, Hydronephrosis	ORPHA:235
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus call...	ORPHA:2166
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Ataxia, Spasticity, Microcephaly	ORPHA:220295
7Q11.23 Microduplication Syndrome	Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:96121
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Partial agen...	OMIM:615948
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis	ORPHA:2750
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Microcephaly, Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function, Cerebral corti...	OMIM:277400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Hurler Syndrome	Frontal bossing, Cerebral palsy, Dolichocephaly, Hydrocephalus, Abnormal pyramidal sign, Spastic ...	ORPHA:93473
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontal bossing, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Frontotempora...	OMIM:619534
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Trisomy 8P	Nephrocalcinosis, Micropenis, Fetal pyelectasis, Hydronephrosis	ORPHA:264450
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed...	ORPHA:2538
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena...	ORPHA:2044
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Paralysis, Hydrocephalus, Spastic paraplegia, Brachycephaly, Limb ataxia, Azoospermia, Hypertonia...	ORPHA:2072
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Diphallia	Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe...	ORPHA:227
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Melnick-Needles Syndrome	Ureteral stenosis, Hydronephrosis	OMIM:309350
D-Bifunctional Protein Deficiency	Renal cyst	OMIM:261515
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Tethered cord, Urinary retention, Hydromyelia	OMIM:600145
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Micropenis, Hypospadias, Hydronephrosis	ORPHA:163979
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Ce...	OMIM:615530
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication	OMIM:268310
Meckel Syndrome 14	Polycystic kidney dysplasia	OMIM:619879
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Scaphocephaly, Dolichocephaly	OMIM:309900
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Immotile sperm	OMIM:613807
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Cerebral cortical atrophy, Midface retrusion, Decreased response to growth hormone...	OMIM:616007
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Frontal bossing, Craniosynostosis, Microcephaly, Cryptorchidism, Dol...	ORPHA:2462
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
Pagod Syndrome	Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia	ORPHA:991
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ...	OMIM:301068
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microcephaly, Hypoplasia of the corpus callosum, Periventri...	ORPHA:508498
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Osteopathia Striata With Cranial Sclerosis	Frontal bossing, Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta, Th...	OMIM:300373
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma...	ORPHA:818
1P36 Deletion Syndrome	Frontal bossing, Microcephaly, Hemiplegia/hemiparesis, Cryptorchidism, Brachycephaly, Hypogonadis...	ORPHA:1606
Cutis Laxa, Autosomal Recessive, Type Ic	Hydronephrosis, Multiple bladder diverticula	OMIM:613177
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Hydronephrosis, Urachus fistula	OMIM:612541
Multiple Sulfatase Deficiency	Hydrocephalus, Microcephaly	ORPHA:585
Wiedemann-Rautenstrauch Syndrome	Frontal bossing, Abnormal corpus striatum morphology, Ataxia, Decreased response to growth hormon...	ORPHA:3455
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Frontal bossing, Turricephaly, Craniosynostosis, Elevated circulating luteinizing hormone level, ...	ORPHA:95699
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Hydronephrosis	OMIM:251260
Schinzel-Giedion Syndrome	Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, ...	ORPHA:798
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Monosomy 22Q13.3	Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis	ORPHA:48652
Ataxia-Telangiectasia	Ataxia, Female hypogonadism, Microcephaly, Tremor, Slurred speech, Choreoathetosis, Progressive c...	OMIM:208900
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:1507
Wolf-Hirschhorn Syndrome	Frontal bossing, Ataxia, Microcephaly, Cryptorchidism, Dolichocephaly, Aplasia/Hypoplasia of the ...	ORPHA:280
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un...	OMIM:270400
Osteopetrosis With Renal Tubular Acidosis	Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac...	ORPHA:2785
Histiocytoid Cardiomyopathy	Hemiplegia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Knobloch Syndrome	Calvarial skull defect, Hydrocephalus, Occipital encephalocele, Midface retrusion	ORPHA:1571
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Hypospadias, Renal cyst	OMIM:616975
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Hurler Syndrome	Calvarial hyperostosis, Frontal bossing, Hydrocephalus, Cranial hyperostosis	OMIM:607014
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:242840
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Mend Syndrome	Cryptorchidism, Hydrocephalus, Hypertonia, Midface retrusion, Dandy-Walker malformation	OMIM:300960
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:280000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Microcephaly, Cryptorchidism...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Microcephaly, Cryptorchidism...	ORPHA:352665
Spondyloepimetaphyseal Dysplasia, Krakow Type	Platybasia, Frontal bossing, Hydrocephalus	OMIM:618162
H Syndrome	Hydrocephalus, Azoospermia, Hypogonadism, Decreased testicular size, Amenorrhea	ORPHA:168569
Monosomy 9Q22.3	Trigonocephaly, Hydrocephalus, Calcification of falx cerebri, Ventriculomegaly	ORPHA:77301
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Frontal bossing, Craniosynostosis, Hydrocephalus, Brachycephaly, Midface retrusion	OMIM:245600
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Cockayne Syndrome A	Ataxia, Microcephaly, Tremor, Cryptorchidism, Basal ganglia calcification, Irregular menstruation...	OMIM:216400
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Frontal bossing, Brachycephaly, Ventriculomegaly	OMIM:618188
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Severe hydrocephal...	OMIM:236680
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Abnormal spinal cord morphology, Horseshoe k...	ORPHA:3310
Robinow Syndrome	Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:97360
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Cerebellar vermis hypoplasia, Microcephaly, Tremor, Partial agenesis of the cor...	OMIM:220111
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Yunis-Varon Syndrome	Abnormal parietal bone morphology, Abnormal occipital bone morphology, Cryptorchidism, Hydrocepha...	ORPHA:3472
Microphthalmia With Linear Skin Defects Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Abnormal testis morphology, Agenesis of co...	ORPHA:2556
Wiedemann-Rautenstrauch Syndrome	Frontal bossing, Cryptorchidism, Hydrocephalus, Brachycephaly, Hypertonia, Truncal ataxia, Pariet...	OMIM:264090
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Microcephaly, Cryptorchidism, Hydrocephalus, Periventricular cysts, Cav...	OMIM:194190
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:613686
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence	OMIM:146500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Torticollis, Isometric tremor, Ataxia, Clonus, Cerebral palsy, Dystonia, Head titubation, Microce...	OMIM:619475
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E...	OMIM:130650
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst...	ORPHA:892
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C...	OMIM:234200
Acrocallosal Syndrome	Frontal bossing, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Prominent occiput, Ag...	OMIM:200990
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Ataxia, Craniosynostosis, Cranial hyperostosis, Spastic paraplegia, ...	ORPHA:309282
Mucopolysaccharidosis Type 1	Hemiplegia/hemiparesis, Hydrocephalus, Dolichocephaly	ORPHA:579
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Cryptorchidism, Hypertonia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Stage 5 chronic kidney...	ORPHA:731
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Focal cortical dysplasia, Schizencephaly, Dystonia, Hydrocephalus, Babinski sign, Porencephalic c...	OMIM:175780
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Vocal cord paresis, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Hy...	ORPHA:581
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Ataxia, Cerebral atrophy	OMIM:616084
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Frontal bossing, Torticollis, Craniosynostosis, Hydrocephalus, Plagiocephaly, Midface retrusion	ORPHA:536467
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2636
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre...	ORPHA:90793
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Cystic renal dysplasia	OMIM:269860
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Coffin-Siris Syndrome	Microcephaly, Cryptorchidism, Simplified gyral pattern, Agenesis of corpus callosum, Dandy-Walker...	ORPHA:1465
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Meckel Syndrome	Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia	ORPHA:564
Degcags Syndrome	Craniosynostosis, Microcephaly, Cryptorchidism, Vocal cord paralysis, Plagiocephaly, Chordee, Age...	OMIM:619488
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus, Plagiocephaly, Hypogonadism, Midface retrusion	ORPHA:3042
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Familial Cerebral Cavernous Malformation	Spinal cord lesion	ORPHA:221061
Basal Cell Nevus Syndrome 1	Frontal bossing, Spina bifida, Hydrocephalus, Calcification of falx cerebri, Parietal bossing	OMIM:109400
Vacterl With Hydrocephalus	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:3412
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ...	ORPHA:99429
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Spina ...	ORPHA:709
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Campomelic Dysplasia	Hypospadias, Hydronephrosis, Spina bifida, Spinal dysraphism	OMIM:114290
Fanconi Anemia	Frontal bossing, Spina bifida, Microcephaly, Cryptorchidism, Hydrocephalus, Azoospermia, Decrease...	ORPHA:84
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Epidid...	OMIM:136140
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria	ORPHA:699
C Syndrome	Renal cortical cysts	OMIM:211750
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Microcephaly, Hydrocephalus, Leukoencephalopathy, Cerebral atrophy, Poor fine motor coord...	ORPHA:79282
Rubinstein-Taybi Syndrome 1	Frontal bossing, Incoordination, Spina bifida, Microcephaly, Parietal foramina, Bilateral cryptor...	OMIM:180849
Fontaine Progeroid Syndrome	Turricephaly, Cerebellar vermis hypoplasia, Craniosynostosis, Microcephaly, Cryptorchidism, Hydro...	OMIM:612289
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum	OMIM:618748
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Tremor, Rigidity, N...	OMIM:601104
Sturge-Weber Syndrome	Hydrocephalus, Cerebral calcification, Cerebral cortical atrophy	ORPHA:3205
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Megalencephaly, Diffuse white matter abnormalities, Thick corpus cal...	ORPHA:457359
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Ring Chromosome 13 Syndrome	Frontal bossing, Microcephaly, Anencephaly, Trigonocephaly, Agenesis of corpus callosum	ORPHA:96176
Coccidioidomycosis	Broad skull, Hydrocephalus, CSF pleocytosis, CSF lymphocytic pleiocytosis, Abnormal sperm morphol...	ORPHA:228123
Beckwith-Wiedemann Syndrome	Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst...	ORPHA:116
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
Mohr Syndrome	Hydrocephalus, Porencephalic cyst	OMIM:252100
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Spina bifida occulta, Hydronephrosis	OMIM:135900
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Cockayne Syndrome B	Ataxia, Microcephaly, Tremor, Cryptorchidism, Basal ganglia calcification, Cerebral atrophy, Norm...	OMIM:133540
Cryptococcosis	Hydrocephalus, Prostatitis, Cerebral cortical atrophy, Cerebral edema	ORPHA:1546
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Arthrogryposis, Distal, Type 4	Torticollis, Cranial asymmetry	OMIM:609128
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1052
Focal Dermal Hypoplasia	Ureteral duplication, Horseshoe kidney, Bifid ureter, Spina bifida occulta, Hydronephrosis	OMIM:305600
Cranioectodermal Dysplasia 2	Renal insufficiency, Renal cyst	OMIM:613610
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis	ORPHA:93271
Charge Syndrome	Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney	ORPHA:138
Distal 22Q11.2 Microduplication Syndrome	Frontal bossing, Microcephaly, Cryptorchidism, Hydrocephalus, Biparietal narrowing	ORPHA:261337
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Hydronephrosis	OMIM:616268
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Cryptorchidism, Large basal gangli...	OMIM:235730
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Hydronephrosis	OMIM:601776
Distal Deletion 15Q	Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias	ORPHA:1596
Schwartz-Jampel Syndrome	Abnormality of the urinary system, Abnormality of the ureter, Nephrolithiasis	ORPHA:800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract, Abnormality of the kidney	ORPHA:2273
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Tethered cord, Hypospadias, Renal insufficiency, Urethral valve, Re...	OMIM:107480
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Micropenis, Hydronephrosis	ORPHA:83617
Zttk Syndrome	Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Hyp...	OMIM:617140
Congenital Tracheal Stenosis	Abnormality of the ureter, Abnormality of the kidney	ORPHA:141127
Acrofacial Dysostosis 1, Nager Type	Microcephaly, Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Midface retrusion	OMIM:154400
Partial Androgen Insensitivity Syndrome	Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Prima...	ORPHA:90797
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Pseudoaminopterin Syndrome	Frontal bossing, Sagittal craniosynostosis, Cryptorchidism, Hydrocephalus, Dolichocephaly	ORPHA:221120
22Q11.2 Deletion Syndrome	Hypospadias, Spina bifida, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, V...	ORPHA:567
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
Isotretinoin-Like Syndrome	Hydrocephalus, Microcephaly	ORPHA:2306
African Trypanosomiasis	Abnormal basal ganglia MRI signal intensity, Abnormal central motor function, Involuntary movemen...	ORPHA:3385
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Gaucher Disease	Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Abnormality of extrapyramidal motor functi...	ORPHA:355
Genitopatellar Syndrome	Microcephaly, Cryptorchidism, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus ...	OMIM:606170
Robinow Syndrome, Autosomal Dominant 1	Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Peters-Plus Syndrome	Frontal bossing, Craniosynostosis, Microcephaly, Cryptorchidism, Hydrocephalus, Cerebral atrophy,...	OMIM:261540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:363700
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus, Dolichocephaly	OMIM:253200
Femoral-Facial Syndrome	Micropenis, Abnormal renal collecting system morphology, Renal agenesis, Polycystic kidney dysplasia	OMIM:134780
Autosomal Recessive Malignant Osteopetrosis	Tremor, Hydrocephalus, Craniosynostosis	ORPHA:667
Fetal Akinesia Deformation Sequence 1	Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Stillbirth, Cerebellar hypoplasia, Cavum...	OMIM:208150
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,...	ORPHA:857
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Ataxia, Cerebellar vermis hypoplasia, Mi...	ORPHA:2152
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
C Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:1308
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis	ORPHA:438213
Digeorge Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Ovarian cyst, Renal dysplasia	OMIM:188400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Hypoplasia of the ovary, Decreased testicula...	OMIM:619321
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ...	ORPHA:251510
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Cerebral calcification	ORPHA:505248
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Cerebellar hypoplasia, Dysplastic corpus callosum, Thick corpus callosum	OMIM:300967
Williams Syndrome	Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Urethr...	ORPHA:904
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Hydromyelia...	OMIM:308205
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki...	OMIM:312870
Schimmelpenning-Feuerstein-Mims Syndrome	Cranial asymmetry, Hemimegalencephaly	OMIM:163200
Fraser Syndrome 1	Encephalocele, Abnormal cortical gyration, Microcephaly, Cryptorchidism, Hydrocephalus, Myelomeni...	OMIM:219000
Fanconi Anemia, Complementation Group L	Hydrocephalus, Cerebellar hypoplasia	OMIM:614083
Ogden Syndrome	Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney	OMIM:300855
Liver Disease, Severe Congenital	Recurrent urinary tract infections, Hypospadias, Aminoaciduria, Alpha-aminobutyric aciduria, Hype...	OMIM:619991
Microphthalmia With Limb Anomalies	Frontal bossing, Hydrocephalus, Cryptorchidism	ORPHA:1106
Otopalatodigital Syndrome, Type Ii	Hypospadias, Hydronephrosis, Spina bifida	OMIM:304120
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis	OMIM:620330
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia	ORPHA:2052
Full Nf2-Related Schwannomatosis	Hemiparesis, Myelopathy, Hydrocephalus	ORPHA:637
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Cyst of the ductus choledochus, Hydronephrosis	ORPHA:480880
Fanconi Anemia, Complementation Group A	Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Microcephaly	OMIM:227650
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Charge Syndrome	Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropenis, Hydronephrosis	OMIM:214800
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	ORPHA:466791
Limb Body Wall Complex	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	ORPHA:2369
Yunis-Varon Syndrome	Flat occiput, Cerebellar vermis hypoplasia, Microcephaly, Pachygyria, Cryptorchidism, Decreased c...	OMIM:216340
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter...	ORPHA:199
Proteus Syndrome	Enlarged polycystic ovaries, Long penis, Renal cyst	ORPHA:744
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia	OMIM:306955
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Coffin-Siris Syndrome 12	Frontal bossing, Microcephaly, Cryptorchidism, Noncommunicating hydrocephalus, Hippocampal atroph...	OMIM:619325
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Renal cyst	OMIM:113620
Neurofibromatosis Type 1	Cryptorchidism, Hydrocephalus, Ataxia	ORPHA:636
Costello Syndrome	Cerebral atrophy, Hydrocephalus, Ventriculomegaly	OMIM:218040
Witteveen-Kolk Syndrome	Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ...	OMIM:613406
Loeys-Dietz Syndrome 1	Hydrocephalus, Craniosynostosis	OMIM:609192
Roberts-Sc Phocomelia Syndrome	Craniosynostosis, Microcephaly, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Brachycepha...	OMIM:268300
Johanson-Blizzard Syndrome	Micropenis, Hypospadias, Hydronephrosis, Urethrovaginal fistula	OMIM:243800
Viss Syndrome	Hydronephrosis	OMIM:619472
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi...	OMIM:164210
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Loeys-Dietz Syndrome 2	Hydrocephalus, Craniosynostosis	OMIM:610168
Pallister-Killian Syndrome	Tethered cord, Hypospadias, Renal dysplasia, Renal cyst	OMIM:601803
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Pmm2-Cdg	Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts, Proteinuria	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nfia

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nfia.

There are 10 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Control of neurogenic competence in mammalian hypothalamic tanycytes.	Science advances (May 2021)	Nfia^{tm1c(EUCOMM)Hmgu}	PMC8163082
NFIA and NFIB function as tumour suppressors in high-grade glioma in mice.	Carcinogenesis (April 2021)	Nfia^{tm1c(EUCOMM)Hmgu}	33346791
Gene regulatory networks controlling vertebrate retinal regeneration.	Science (New York, N.Y.) (October 2020)	Nfia^{tm1c(EUCOMM)Hmgu}	33004674
NFIA differentially controls adipogenic and myogenic gene program through distinct pathways to ensure brown and beige adipocyte differentiation.	PLoS genetics (September 2020)	Nfia^{tm1c(EUCOMM)Hmgu} Nfia^{tm1a(EUCOMM)Hmgu}	PMC7546476
Region-Specific Transcriptional Control of Astrocyte Function Oversees Local Circuit Activities.	Neuron (April 2020)	Nfia^{tm1c(EUCOMM)Hmgu}	32320644
Nuclear Factor I/A Controls A-fiber Nociceptor Development.	Neuroscience bulletin (March 2020)	Nfia^{tm1c(EUCOMM)Hmgu}	PMC7340684
Nuclear factor I-A regulates diverse reactive astrocyte responses after CNS injury.	The Journal of clinical investigation (October 2019)	Nfia^{tm1a(EUCOMM)Hmgu}	PMC6763246
Single-Cell RNA-Seq Analysis of Retinal Development Identifies NFI Factors as Regulating Mitotic Exit and Late-Born Cell Specification.	Neuron (May 2019)	Nfia^{tm1c(EUCOMM)Hmgu} Nfia^{tm1a(EUCOMM)Hmgu}	31128945
Pancreatic Cell Fate Determination Relies on Notch Ligand Trafficking by NFIA.	Cell reports (December 2018)	Nfia^{tm1c(EUCOMM)Hmgu} Nfia^{tm1a(EUCOMM)Hmgu}	30590051
Myeloid Cell-Specific Knockout of NFI-A Improves Sepsis Survival.	Infection and immunity (March 2017)	Nfia^{tm1a(EUCOMM)Hmgu}	PMC5364314

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Nfia^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nfia^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Nfia^{tm437(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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