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 (1 diseases)
Human diseases predicted to be associated with Nfia (1611 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		Syringomyelia, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis	OMIM:613735

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

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