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 (1663 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		Renal hypoplasia, Hydronephrosis, Syringomyelia, Vesicoureteral reflux	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	Hydronephrosis, Duplicated collecting system	OMIM:163850
Ureter, Cancer Of	Neoplasm of the ureter	OMIM:191600
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Renal Caliceal Diverticuli-Deafness Syndrome	Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou...	ORPHA:2838
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Babinski sign, Scissor gait, Bradykinesia, Cogwheel rigidity, Resting tr...	ORPHA:363654
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux	OMIM:618270
Vesicoureteral Reflux 3	Hydronephrosis, Hydroureter, Vesicoureteral reflux	OMIM:613674
Renal Hypodysplasia/Aplasia 3	Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ...	OMIM:617805
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Renal Dysplasia, Cystic, Susceptibility To	Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins...	OMIM:601331
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Congenital Primary Megaureter	Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin...	ORPHA:617
Urofacial Syndrome 2	Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure...	OMIM:615112
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Unilateral polymicrogyria, Lissencephaly, Pachygyria, Cerebellar hypoplasia, Hypoplasia of the co...	OMIM:610031
Chudley-Mccullough Syndrome	Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hydrocephalu...	OMIM:604213
Congenital Anomalies Of Kidney And Urinary Tract 2	Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena...	OMIM:143400
Lissencephaly 3	Lissencephaly, Ventriculomegaly, Spastic tetraplegia, Pachygyria, Ataxia, Cerebellar vermis hypop...	OMIM:611603
Lissencephaly 4	Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Micr...	OMIM:614019
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corpus callosum, Co...	OMIM:614039
Band Heterotopia	Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Spasticity, Agenes...	OMIM:600348
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Nephronophthisis 20	Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease	OMIM:617271
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly	ORPHA:171703
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dandy-Walker malformation, Flat occiput, Bicoronal synostosis, Brachycephaly, Delayed closure of ...	OMIM:618736
Autosomal Recessive Spastic Paraplegia Type 67	Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Aplasia/Hypoplasia of the cerebe...	ORPHA:401820
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease	OMIM:617610
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Dandy-Walker malformation, Frontal bossing, Orbital craniosynostosis, Hydrocephalus, Cerebellar h...	ORPHA:1538
Polymicrogyria Due To Tubb2B Mutation	Oromotor apraxia, Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis ...	ORPHA:300573
Sub-Cortical Nodular Heterotopia	Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia...	ORPHA:101029
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Polymicrogyria, Hydrocephalus, Megalencephaly, Ventriculomegaly	OMIM:615938
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst, Abnormality of the kidney	OMIM:615987
Autosomal Recessive Spastic Paraplegia Type 69	Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar verm...	ORPHA:401830
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Simplified gyral pattern, Cerebellar hypoplasia, Hypoplasia of the corpus ...	OMIM:608716
Masa Syndrome	Spastic paraplegia, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal corpus callosum morphology, Ventriculomegaly, Stereotypy, Ataxia, Hydrocephalus, Cortica...	OMIM:618709
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hemimegalencephaly, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus cal...	OMIM:615937
Hydrocephalus With Cerebellar Agenesis	Cerebellar agenesis, Hydrocephalus	OMIM:307010
Caudal Duplication	Ureteral duplication, Abnormal penis morphology, Myelomeningocele, Spinal cord lesion, Renal hypo...	ORPHA:1756
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Holoprosencephaly 5	Lobar holoprosencephaly, Holoprosencephaly, Trigonocephaly, Syntelencephaly, Alobar holoprosencep...	OMIM:609637
Hydrocephalus, Autosomal Dominant	Dandy-Walker malformation, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus	OMIM:123155
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Partial agenesis of the corpus callosum, Plagiocephaly, Limb hypertonia,...	OMIM:617296
Unilateral Hemispheric Polymicrogyria	Cerebral hypoplasia, Hemiparesis, Thick cerebral cortex, Dilation of lateral ventricles, Cortical...	ORPHA:101071
Polyrrhinia	Dilation of lateral ventricles, Abnormal third ventricle morphology	ORPHA:141091
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Alexander Disease	Ataxia, Hydrocephalus, Spasticity, Increased CSF protein	OMIM:203450
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Dysmyelination With Jaundice	Hydronephrosis, Hypoplasia of penis, Hydroureter	OMIM:224250
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Tremor, Dilation of later...	ORPHA:306669
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Periventricular cysts, Abnormal CSF pyruvate family amino acid concentration, Abnormal corpus cal...	ORPHA:255182
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of...	OMIM:300864
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Subcortical cerebral atrophy, Hydrocephalus, Cerebellar hypoplasia, Cerebral cortical hemiatrophy...	ORPHA:2703
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Martsolf Syndrome 2	Hypogonadotropic hypogonadism, Spastic diplegia, Dilation of lateral ventricles, Hypoplasia of th...	OMIM:619420
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619501
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Hydronephrosis, Syringomyelia, Vesicoureteral reflux	OMIM:613735
Dandy-Walker Syndrome	Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po...	OMIM:220200
Autosomal Dominant Spastic Paraplegia Type 41	Spinal cord lesion, Urinary urgency	ORPHA:320355
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Congenital Megacalycosis	Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol...	ORPHA:93109
Autosomal Recessive Spastic Paraplegia Type 71	Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Hypoplasia of the corpus callosu...	ORPHA:401840
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis	ORPHA:2807
Hinman Syndrome	Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff...	ORPHA:84085
Masa Syndrome	Paraplegia, Lower limb spasticity, Ventriculomegaly, Hydrocephalus, Spastic paraplegia, Agenesis ...	OMIM:303350
Ureterocele	Ureterocele, Duplicated collecting system	OMIM:191650
Urofacial Syndrome 1	Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio...	OMIM:236730
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Stereotypy, Ventriculomegaly, Ataxia, Progressive microcephaly, Tremor, Hypoplasia of the corpus ...	OMIM:617862
Microcephaly 17, Primary, Autosomal Recessive	Microlissencephaly, Simplified gyral pattern, Ventriculomegaly, Hypoplasia of the brainstem, Spas...	OMIM:617090
Bardet-Biedl Syndrome 16	Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney	OMIM:615993
Leukoencephalopathy with metaphyseal chondrodysplasia	Babinski sign, Leukoencephalopathy, Abnormal cerebral white matter morphology, Tremor, Diffuse ce...	OMIM:300660
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum, Ce...	ORPHA:85179
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Atypical Teratoid Rhabdoid Tumor	Cerebral palsy, Ataxia, Hydrocephalus, Cerebral calcification, Hemiplegia/hemiparesis	ORPHA:99966
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Arrhinencephaly, Agenesis of corpus callosum	OMIM:300073
Lissencephaly, X-Linked, 1	Pachygyria, Lissencephaly, Agenesis of corpus callosum, Agyria	OMIM:300067
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Simplified gyral pattern, Absent septum pellucidum, Hypoplasia of the brainstem, Cerebral atrophy...	OMIM:618492
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Renal cyst	OMIM:138790
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Familial Congenital Mirror Movements	Clumsiness, Dysgenesis of the hippocampus, Cerebral palsy, Hypogonadotropic hypogonadism, Morphol...	ORPHA:238722
Autosomal Dominant Spastic Paraplegia Type 37	Spinal cord lesion, Urinary urgency	ORPHA:171612
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Hypoplasia of the brainstem, Po...	ORPHA:250972
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Hypoplasia of the pons, Myoclonus, Ventriculomegaly, Microcephaly, Spasticity, Agenesis of corpus...	OMIM:617669
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Inferior vermis hypoplasia, Hydrocephalus, Cerebellar hy...	OMIM:304100
Spastic Paraplegia 45, Autosomal Recessive	Hypoplasia of the corpus callosum, Dysplastic corpus callosum	OMIM:613162
Syringomyelia, Noncommunicating Isolated	Urinary incontinence, Syringomyelia	OMIM:186700
Leukoencephalopathy, Progressive, With Ovarian Failure	Leukoencephalopathy, Progressive leukoencephalopathy, Tremor, Ataxia, Periventricular leukomalaci...	OMIM:615889
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9	Dandy-Walker malformation, Ventriculomegaly, Persistent open anterior fontanelle, Hypoplasia of t...	ORPHA:262767
Renal Hypoplasia	Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm...	ORPHA:93101
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Spasticit...	OMIM:619517
Lower Limb Malformation-Hypospadias Syndrome	Hypospadias, Abnormality of the ureter	ORPHA:2487
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Leukoencephalopathy, Tremor, Ataxia, Spasticity, Ce...	OMIM:614561
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Simplified gyral pa...	OMIM:616051
Craniotelencephalic Dysplasia	Arrhinencephaly, Septo-optic dysplasia, Craniosynostosis, Frontal bossing, Hydrocephalus, Cerebel...	ORPHA:1528
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia, Hypertonia, Spasticity, Dilation of lateral ventricles, Hypoplasia of the...	OMIM:618890
Spinocerebellar Ataxia 23	Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia, Agenesis of corpus callosum	OMIM:610245
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Syringomyelia	ORPHA:531151
Spermatogenic Failure 5	Functional abnormality of male internal genitalia, Male infertility	OMIM:243060
Microphthalmia-Brain Atrophy Syndrome	Tongue thrusting, Corpus callosum atrophy, Spasticity, Diffuse cerebral atrophy, Dilation of late...	ORPHA:77299
Episodic Ataxia, Type 1	Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia	OMIM:160120
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects	Hydronephrosis, Spina bifida occulta, Myelomeningocele, Ureteral atresia	OMIM:183802
Growth Retardation, Small And Puffy Hands And Feet, And Eczema	Partial agenesis of the corpus callosum	OMIM:233810
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Leukoencephalopathy, Tremor, Ataxia, Spasticity	OMIM:611105
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein	ORPHA:251912
Pyruvate Dehydrogenase E1-Alpha Deficiency	Choreoathetosis, Episodic ataxia, Ventriculomegaly, Frontal bossing, Basal ganglia cysts, Increas...	OMIM:312170
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy	OMIM:600329
Mental Retardation, Autosomal Dominant 48	Dilated fourth ventricle, Stereotypy, Cerebellar vermis hypoplasia, Polymicrogyria, Cerebellar hy...	OMIM:617751
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebral white matter hypoplasia, Myoclonus, Craniosynostosis, Simplified gyral pattern, Primary ...	ORPHA:284417
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Renal agenesis, Ureteral dysgenesis	OMIM:274265
Autosomal Dominant Spastic Paraplegia Type 8	Urinary incontinence, Spinal cord lesion, Urinary urgency	ORPHA:100989
Pyruvate Dehydrogenase E1-Alpha Deficiency	Partial agenesis of the corpus callosum, Basal ganglia necrosis, Abnormal CSF pyruvate family ami...	ORPHA:79243
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Spastic tetraplegia, Simplified gyral pattern, Hypertoni...	OMIM:619302
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
16P13.2 Microdeletion Syndrome	Dilated third ventricle, Plagiocephaly, Brachycephaly, Cerebral white matter atrophy, Ventriculom...	ORPHA:500055
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ...	OMIM:191800
Developmental And Epileptic Encephalopathy 49	Dandy-Walker malformation, Myoclonus, Ventriculomegaly, Frontal bossing, Hydrocephalus, Spasticit...	OMIM:617281
Developmental And Epileptic Encephalopathy 88	Partial agenesis of the corpus callosum, Progressive microcephaly, Hypoplasia of the pons, Inferi...	OMIM:618959
Microcephaly 16, Primary, Autosomal Recessive	Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616681
Craniofacial Dyssynostosis With Short Stature	Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Ventriculomegaly, Frontal bossi...	OMIM:218350
Intellectual Developmental Disorder, X-Linked 103	Dilation of lateral ventricles, Polymicrogyria	OMIM:300982
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Bowen Syndrome Of Multiple Malformations	Agenesis of corpus callosum	OMIM:211200
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Dysgenesis of the hippocampus, Torticollis, Spastic ataxia, Stereotypy, Polymicrogyria, Cerebella...	ORPHA:300570
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Corticospinal tract hypoplasia, Ventriculomegaly, Pachygyria, Short corpus...	ORPHA:255138
Bilateral Generalized Polymicrogyria	Diffuse white matter abnormalities, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyeli...	ORPHA:208447
Frontal Encephalocele	Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral calcification, D...	ORPHA:1931
Gómez-López-Hernández Syndrome	Brachycephaly, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Turricephaly, Midface retrusion	ORPHA:1532
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius	Absent septum pellucidum, Corticospinal tract hypoplasia, Hydrocephalus, Spasticity, Spastic para...	OMIM:307000
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Babinski sign, Abnormality of the cerebrospinal fluid, Ataxia, Resting t...	ORPHA:314404
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Malan Overgrowth Syndrome	Plagiocephaly, Ventriculomegaly, Frontal bossing, Hypoplasia of the brainstem, Scaphocephaly, Epi...	ORPHA:420179
Optic Atrophy 2	Tremor, Babinski sign, Dysdiadochokinesis	OMIM:311050
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Clumsiness, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Oculomotor apraxia, Cereb...	ORPHA:453521
Kleeblattschaedel	Craniosynostosis, Hydrocephalus, Cloverleaf skull	OMIM:148800
Craniotelencephalic Dysplasia	Arrhinencephaly, Optic nerve hypoplasia, Absent septum pellucidum, Cerebellar hypoplasia, Lissenc...	OMIM:218670
Alg2-Cdg	Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi...	ORPHA:79326
Autosomal Dominant Non-Syndromic Intellectual Disability	Cerebral atrophy, Chorea, Leukoencephalopathy, Abnormal cerebral white matter morphology, Stereot...	ORPHA:178469
Hypotonia, Infantile, With Psychomotor Retardation	Dilation of lateral ventricles, Hypoplasia of the corpus callosum	OMIM:616816
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Autosomal Dominant Spastic Paraplegia Type 19	Spinal cord lesion, Urinary urgency	ORPHA:100999
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Brachycephaly, Unilambdoid synostosis, Ventriculomegaly, Hydrocephalus, Midface re...	OMIM:618577
Cach Syndrome	Secondary amenorrhea, Dysmetria, Dysgyria, Hemiparesis, Spastic diplegia, Primary amenorrhea, Pre...	ORPHA:135
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Simplified gyral pattern, Stereotypy, Tremor, Periventricular white matter hyperintensities, Spas...	OMIM:619470
Mental Retardation, Autosomal Dominant 22	Agenesis of corpus callosum, Microcephaly	OMIM:612337
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Distal Tetrasomy 15Q	Horseshoe kidney, Hydronephrosis, Syringomyelia, Polycystic kidney dysplasia, Dilatation of the r...	ORPHA:314588
Leukodystrophy, Hypomyelinating, 11	Tremor, Ataxia, Hypoplasia of the corpus callosum, Spasticity	OMIM:616494
Developmental And Epileptic Encephalopathy 97	Tremor, Stereotypical hand wringing, Ventriculomegaly	OMIM:619561
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly	OMIM:619466
Craniosynostosis 6	Dandy-Walker malformation, Plagiocephaly, Brachycephaly, Craniosynostosis, Abnormal corpus callos...	OMIM:616602
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum	Agenesis of corpus callosum	OMIM:225040
Chiari Malformation Type I	Urinary incontinence, Syringomyelia	OMIM:118420
Immunodeficiency, Common Variable, 6	Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne...	OMIM:613496
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Developmental And Epileptic Encephalopathy 36	Abnormality of extrapyramidal motor function, Hydrocephalus, Cerebral atrophy, Abnormal pyramidal...	OMIM:300884
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Lissencephaly 5	Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopathy, Cerebellar v...	OMIM:615191
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Severe X-Linked Intellectual Disability, Gustavson Type	Dandy-Walker malformation, Large fontanelles, Dilated fourth ventricle, Myoclonus, Small fontanel...	ORPHA:3078
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Spermatogenic Failure 46	Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S...	OMIM:619095
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features	Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:612948
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Autosomal Recessive Spastic Paraplegia Type 66	Limb hypertonia, Colpocephaly, Spastic gait, Lower limb spasticity, Cerebellar hypoplasia, Hypopl...	ORPHA:401815
Renal Dysplasia	Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin...	ORPHA:93108
Combined Oxidative Phosphorylation Defect Type 39	Deep white matter hypodensities, Involuntary movements, Babinski sign, Limb hypertonia, Abnormal ...	ORPHA:565624
12Q14 Microdeletion Syndrome	Horseshoe kidney, Ectopic kidney, Renal hypoplasia, Syringomyelia	ORPHA:94063
Lissencephaly 7 With Cerebellar Hypoplasia	Agyria, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Microcephaly	OMIM:616342
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3	Tremor, Ataxia, Slurred speech	OMIM:613227
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:166024
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hydronephrosis, Duplicated collecting system	OMIM:617093
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Poor gross motor coordination, Trigonocephaly, Subependy...	OMIM:245349
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Hemiplegia/hemiparesis, Absent septum pellucidum, Hydrocephalus, Spasticity, A...	ORPHA:2182
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy...	OMIM:617542
Congenital Hydrocephalus	Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Frontal bossin...	ORPHA:2185
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Spermatogenic Failure 56	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:619515
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in...	OMIM:618751
Spermatogenic Failure 49	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619094
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Indomethacin Embryofetopathy	Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency, Nephropathy	ORPHA:1909
Renal Tubular Dysgenesis	Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy	ORPHA:3033
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Abnormal ce...	OMIM:607317
D-2-Hydroxyglutaric Aciduria 1	Frontal bossing, Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, ...	OMIM:600721
Greig Cephalopolysyndactyly Syndrome	Metopic synostosis, Trigonocephaly, Craniosynostosis, Ventriculomegaly, Frontal bossing, Scaphoce...	OMIM:175700
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Spastic Paraparesis And Deafness	Hypogonadism, Spastic paraparesis, Tremor	OMIM:312910
Secondary Syringomyelia	Dysuria, Hyperintensity of MRI T2 signal of the spinal cord, Syringomyelia	ORPHA:99857
Chromosome 3Q13.31 Deletion Syndrome	Plagiocephaly, Brachycephaly, Ventriculomegaly, Alobar holoprosencephaly, Dolichocephaly, Agenesi...	OMIM:615433
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Spermatogenic Failure, X-Linked, 3	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:301059
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease	OMIM:613390
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Bardet-Biedl Syndrome 4	Renal cyst, Abnormality of the kidney	OMIM:615982
Thymic Aplasia With Fetal Death	Ureteral agenesis, Renal agenesis	OMIM:274210
Fried Syndrome	Thickened calvaria, Spastic diplegia, Hydrocephalus, Cerebral calcification	ORPHA:85335
Spermatogenic Failure 54	Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled...	OMIM:619379
Hydrocephalus, Congenital, 3, With Brain Anomalies	Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus	OMIM:617967
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney	OMIM:613730
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Microcephaly, Cerebral atrophy	OMIM:274270
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Plagiocephaly, Abnormal globus pallidus morphology, Brachycephaly, Ventriculomegaly, Hypoplasia o...	OMIM:618603
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Hydroc...	OMIM:225790
Primary Hyperoxaluria Type 2	Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i...	ORPHA:93599
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microcephaly	OMIM:617244
Spastic Paraplegia 11, Autosomal Recessive	Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Spastic gait, Lower...	OMIM:604360
Foix-Alajouanine Syndrome	Myelopathy, Urinary retention, Spinal cord lesion, Cervical myelopathy, Urinary incontinence, Hyp...	ORPHA:79093
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Babinski sign, Hydrocephalus, Spasticity, Cerebral atrophy, Abnormal pyramidal sign, Secondary mi...	ORPHA:397951
Spermatogenic Failure 42	Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ...	OMIM:618745
Split Cord Malformation Type I	Diastomatomyelia	ORPHA:1671
Pettigrew Syndrome	Dandy-Walker malformation, Choreoathetosis, Ventriculomegaly, Hydrocephalus, Spasticity, Cerebral...	OMIM:304340
Spermatogenic Failure 58	Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ...	OMIM:619585
Spermatogenic Failure 39	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618643
Spermatogenic Failure 40	Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse...	OMIM:618664
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Dilated third ventricle, Dandy-Walker malformation, Meningocele, Colpocephaly, Abnormal corpus ca...	ORPHA:397715
Dyskinesia, Limb And Orofacial, Infantile-Onset	Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus	OMIM:616921
Neurocutaneous Melanocytosis	Meningocele, Renal hypoplasia/aplasia, Syringomyelia	ORPHA:2481
Xanthinuria, Type I	Xanthinuria, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis	OMIM:278300
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Morning myoclonic jerks, Brachycephaly, Diffuse cerebral atrophy, Mi...	ORPHA:2898
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Congenital Neuronal Ceroid Lipofuscinosis	Gliosis, Neuronal loss in the cerebral cortex, Pachygyria, Cerebellar hypoplasia, Cerebral hypopl...	ORPHA:168486
Ochoa Syndrome	Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ...	ORPHA:2704
Alg13-Cdg	Clumsiness, Global brain atrophy, Abnormal lateral ventricle morphology	ORPHA:324422
Corpus Callosum Agenesis-Neuronopathy Syndrome	Craniosynostosis, Turricephaly, Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly, H...	ORPHA:1496
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Microcephaly, Frontal cortical atrophy, Agenesis of corpus callosum, Parietal cortical atrophy	OMIM:618766
Glutamine Deficiency, Congenital	Neonatal death, Subependymal cysts, Decreased CSF glutamine concentration, Dilation of lateral ve...	OMIM:610015
Mitochondrial Complex I Deficiency, Nuclear Type 16	Choreoathetosis, Caudate atrophy, Spastic tetraplegia, Increased CSF lactate, Spasticity, Agenesi...	OMIM:618238
Pontocerebellar Hypoplasia, Type 13	Dandy-Walker malformation, Hypoplasia of the pons, Gait ataxia, Cerebellar vermis hypoplasia, Hyp...	OMIM:618606
Autosomal Dominant Spastic Paraplegia Type 12	Urinary incontinence, Spinal cord lesion, Urinary urgency	ORPHA:100993
Segawa Syndrome, Autosomal Recessive	Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Decreased CSF homovanillic aci...	OMIM:605407
X-Linked Intellectual Disability, Wilson Type	Dilation of lateral ventricles, Microcephaly, Brachycephaly	ORPHA:85290
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney	ORPHA:195
Deafness-Infertility Syndrome	Abnormal spermatogenesis, Male infertility, Reduced sperm motility	OMIM:611102
Medullary cystic kidney disease 2	Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ...	OMIM:603860
Spinocerebellar Ataxia Type 20	Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax...	ORPHA:101110
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Hemiballismus, Frequent falls	ORPHA:494526
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Micro...	ORPHA:2512
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly	OMIM:614830
Spermatogenic Failure 47	Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella	OMIM:619102
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum...	ORPHA:544488
Holoprosencephaly 11	Holoprosencephaly, Agenesis of corpus callosum, Microcephaly	OMIM:614226
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Spinocerebellar Ataxia, Autosomal Recessive 16	Babinski sign, Hypogonadism, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Cerebellar hypopla...	OMIM:615768
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Spasticity, Prominent occiput, Cerebral cortical atrophy, Microcephaly	ORPHA:1665
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a...	ORPHA:98769
Chiari Malformation Type Ii	Cervical myelopathy, Syringomyelia, Spina bifida, Myelomeningocele	OMIM:207950
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements, Dolichocephaly	OMIM:618425
Glycine Encephalopathy	Agenesis of corpus callosum	OMIM:605899
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Syringomyelia	ORPHA:261197
Congenital Anomalies Of Kidney And Urinary Tract 1	Ureteropelvic junction obstruction, Stage 5 chronic kidney disease, Vesicoureteral reflux	OMIM:610805
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Spinocerebellar Ataxia 43	Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia	OMIM:617018
Central Neurocytoma	Babinski sign, Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification	ORPHA:73256
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Microhydranencephaly	Athetosis, Hydranencephaly, Spastic tetraplegia, Ventriculomegaly, Pachygyria, Hypoplasia of the ...	OMIM:605013
Dandy-Walker Malformation With Postaxial Polydactyly	Dandy-Walker malformation, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, D...	OMIM:220220
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Poor gross motor coordination, Cerebral palsy, Cerebral white matter atrophy, Abnormal caudate nu...	ORPHA:2148
Warburg Micro Syndrome 1	Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Spastic diplegia, Cerebellar hypoplasia...	OMIM:600118
Spermatogenic Failure 41	Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,...	ORPHA:529970
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Horseshoe kidney, Renal agenesis, Syringomyelia, Vesicoureteral reflux, Ectopic kidney, Renal ins...	ORPHA:140952
Wars2-Related Combined Oxidative Phosphorylation Defect	Athetosis, Cerebral white matter hypoplasia, Limb hypertonia, Dilated fourth ventricle, Dysmetria...	ORPHA:572798
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral wh...	ORPHA:352682
Pontocerebellar Hypoplasia, Type 9	Clonus, Ventriculomegaly, Microcephaly, Progressive microcephaly, Spasticity, Midface retrusion, ...	OMIM:615809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hypoplasia of the pons, Ventriculomegaly, Hydrocephalus, Type II lisse...	OMIM:613154
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Diffuse c...	OMIM:615362
Spermatogenic Failure 7	Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility	OMIM:612997
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Hydrocepha...	OMIM:615287
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Neurofibrillary tangles, Lewy bodies, Repetitive compulsive behavior, Apraxia, Dila...	OMIM:607485
Crouzon Syndrome With Acanthosis Nigricans	Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly	OMIM:612247
Spermatogenic Failure 11	Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility	OMIM:615081
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Craniosynostosis, Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Rhyns Syndrome	Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, Limb tremor, Ventriculomegaly, Tremor, Agenesis of corpus callosum, Increased CSF ...	OMIM:218000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Rigidity, Spastic tetraplegia, Ventriculomegaly, Ataxia, Hydrocephalus, Spasticity, Abnormal cere...	OMIM:618476
Spermatogenic Failure 48	Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
15Q Overgrowth Syndrome	Horseshoe kidney, Hydronephrosis, Ureterovesical stenosis, Syringomyelia, Abnormal renal morpholo...	ORPHA:314585
Combined Oxidative Phosphorylation Deficiency 15	Tremor, Ataxia, Increased CSF lactate, Incoordination, Abnormal cerebral white matter morphology,...	OMIM:614947
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly	ORPHA:2508
Hemimegalencephaly	Cranial asymmetry, Hemimegalencephaly, Myoclonus, Ventriculomegaly, Hemiparesis, Pachygyria, Poly...	ORPHA:99802
X-Linked Intellectual Disability, Schimke Type	Hydronephrosis, Vesicoureteral reflux	ORPHA:85285
Acalvaria	Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Calvarial s...	ORPHA:945
Ventriculomegaly With Defects Of The Radius And Kidney	Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly	OMIM:602200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Midface retrusion, Abnormal corpus callosum morphology, Stereotypy, Cavum septum p...	ORPHA:457279
Vesicoureteral Reflux, X-Linked	Vesicoureteral reflux	OMIM:314550
Vesicoureteral Reflux 1	Vesicoureteral reflux	OMIM:193000
Parkinson Disease 2, Autosomal Recessive Juvenile	Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Substantia nigra gliosis, Parkinsonism	OMIM:600116
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619528
Adenylosuccinate Lyase Deficiency	Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Prominent metopic rid...	ORPHA:46
Foxg1 Syndrome	Choreoathetosis, Myoclonus, Abnormal corpus callosum morphology, Stereotypy, Pachygyria, Progress...	ORPHA:561854
Slc35A2-Cdg	Dandy-Walker malformation, Cerebral white matter atrophy, Craniosynostosis, Abnormal cerebral whi...	ORPHA:356961
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Cutis Laxa, Autosomal Recessive, Type Iib	Large fontanelles, Frontal bossing, Hydrocephalus, Midface retrusion, Agenesis of corpus callosum...	OMIM:612940
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Partial agenesis of the corpus callosum, Hypoplasia of the pons, Vocal cord paralysis, Myoclonus,...	ORPHA:500144
Glutathionuria	Tremor	OMIM:231950
Septooptic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Anterior pituitary hypoplasia, Decreased respon...	OMIM:182230
Posterior Urethral Valve	Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat...	ORPHA:93110
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Focal segmental glomerulosclerosis, Renal cyst, Nephropathy	OMIM:617056
Nephronophthisis 16	Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney	OMIM:615382
Lissencephaly Type Iii And Bone Dysplasia	Hypoplasia of the brainstem, Agenesis of corpus callosum, Microlissencephaly, Agenesis of cerebel...	OMIM:601160
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia	OMIM:607196
Non-Syndromic Anorectal Malformation	Hypospadias, Myelomeningocele, Syringomyelia, Rectourethral fistula, Tethered cord, Persistent cl...	ORPHA:557
4Q21 Microdeletion Syndrome	Large fontanelles, Stereotypy, Tremor, Ventriculomegaly, Frontal bossing, Cerebellar hypoplasia, ...	ORPHA:238750
Caribbean Parkinsonism	Midline brain calcifications, T2 hypointense basal ganglia, Weakness due to upper motor neuron dy...	ORPHA:97355
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Cavum septum pellucidum, Spasticity, Cerebral atrophy, Dilation of later...	ORPHA:464738
Intellectual Developmental Disorder, X-Linked 104	Trigonocephaly, Tremor, Ataxia, Spasticity, Hypoplasia of the corpus callosum, Cerebral cortical ...	OMIM:300983
Atresia Of Urethra	Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t...	ORPHA:105
Neuronopathy, Distal Hereditary Motor, Type Viia	Tremor, Vocal cord paralysis, Vocal cord paresis	OMIM:158580
Diabetes Insipidus, Neurohypophyseal, X-Linked	Hydronephrosis, Polyuria	OMIM:304900
Spermatogenic Failure 1	Oligospermia, Male infertility, Cryptozoospermia	OMIM:258150
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Babinski sign, Rigidity, Abnormal caudate nucleus morphology, Myoclonus, Bradyki...	ORPHA:314632
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Gabriele-De Vries Syndrome	Tremor, Abnormal cerebral white matter morphology, Ventriculomegaly	OMIM:617557
Partial Chromosome Y Deletion	Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia	ORPHA:1646
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Joubert Syndrome 20	Renal cyst	OMIM:614970
Lissencephaly 6 With Microcephaly	Partial agenesis of the corpus callosum, Limb hypertonia, Microlissencephaly, Simplified gyral pa...	OMIM:616212
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly, Hypoplasia of the corpus callosum, Progressive spastic paraplegia, Ventriculomegaly	ORPHA:521390
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Hypoplasia of the corpus callosum, Gait ataxia, Abnormal lateral ventricle morphology, Cerebellar...	ORPHA:488635
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Brachycephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydroc...	ORPHA:272
Hsd10 Disease	Rigidity, Choreoathetosis, Myoclonus, Ventriculomegaly, Tremor, Focal white matter lesions, Ataxi...	ORPHA:391417
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Vesicoureteral reflux	OMIM:618265
Cerebrooculofacioskeletal Syndrome 1	Microcephaly, Gliosis, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:214150
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Spinocerebellar Ataxia Type 12	Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy...	ORPHA:98762
Melanosis, Neurocutaneous	Syringomyelia	OMIM:249400
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Renal hypoplasia, Renal cyst	OMIM:228940
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Babinski sign, Scissor gait, Bradykinesia, Tremor, Progressive microcephaly, Ankle clonus, Spasti...	ORPHA:521406
Combined Oxidative Phosphorylation Deficiency 2	Agenesis of corpus callosum, Ventriculomegaly	OMIM:610498
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia	OMIM:619145
Baraitser-Winter Syndrome 2	Trigonocephaly, Ventriculomegaly, Pachygyria, Secondary microcephaly, Lissencephaly, Agenesis of ...	OMIM:614583
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Ventriculomegaly, Pro...	ORPHA:488627
Alpha-Methylacyl-Coa Racemase Deficiency	Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism	OMIM:614307
1Q21.1 Microduplication Syndrome	Frontal bossing, Hypertonia, Hydrocephalus	ORPHA:250994
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Achondroplasia	Frontal bossing, Midface retrusion, Hydrocephalus, Megalencephaly	OMIM:100800
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Frontal bossing, Hydrocephalus, Dilation of lateral ventricles, Dolichocephaly, A...	OMIM:612863
Glutaric Acidemia I	Opisthotonus, Rigidity, Choreoathetosis, Spastic diplegia, Dilation of lateral ventricles	OMIM:231670
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Babinski sign, Rigidity, Bradykinesia, Slurred speech, Thin corpus callosum, Apraxia, Cerebral at...	OMIM:300423
Autosomal Recessive Spastic Paraplegia Type 11	Progressive spasticity, Parkinsonism, Hypothalamic atrophy, Focal T2 hyperintense basal ganglia l...	ORPHA:2822
Contractures-Developmental Delay-Pierre Robin Syndrome	Hypospadias, Syringomyelia	ORPHA:436003
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis	OMIM:618161
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Lissencephaly, Agenesis of co...	OMIM:614833
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Cerebral palsy, Stereotypy, Hypertonia, Dilation of lateral ventricles, Hypoplasia of the corpus ...	OMIM:618914
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Hypoplasia of penis	ORPHA:1046
Diaphanospondylodysostosis	Multiple renal cysts, Myelomeningocele	ORPHA:66637
Neuronal Intranuclear Inclusion Disease	Rigidity, Leukoencephalopathy, Ventriculomegaly, Tremor, Ataxia, CSF pleocytosis, Increased CSF p...	OMIM:603472
Hyperphenylalaninemia, Bh4-Deficient, C	Choreoathetosis, Myoclonus, Tremor, Hypertonia, Cerebral calcification, Microcephaly	OMIM:261630
Kohlschutter-Tonz Syndrome-Like	Upper limb spasticity, Midface retrusion, Brachycephaly, Global brain atrophy, Myoclonus, Lower l...	OMIM:619229
Lissencephaly, X-Linked, 2	Ventriculomegaly, Pachygyria, Wide anterior fontanel, Spasticity, Lissencephaly, Agenesis of corp...	OMIM:300215
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Adult Neuronal Ceroid Lipofuscinosis	Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Aplasia/Hypo...	ORPHA:79262
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilation of lateral ventricles, Agenesis of corpus callosum	OMIM:300952
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dysmetria, Ataxia, Myoclonus, Agenesis of corpus callosum	OMIM:250620
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Brachycephaly, Microcephaly, Progressive spasticity	ORPHA:2528
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Hydronephrosis, Urogenital sinus anomaly, Displacement of the urethral meatus, Multicystic kidney...	ORPHA:2973
Glut1 Deficiency Syndrome 2	Choreoathetosis, Tremor, Ataxia, Hypoglycorrhachia, Cerebral atrophy	OMIM:612126
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Renal Coloboma Syndrome	Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins...	ORPHA:1475
Coach Syndrome 2	Cerebellar vermis hypoplasia, Oculomotor apraxia, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syringomyelia	ORPHA:404451
Craniofacial Dyssynostosis	Craniosynostosis, Frontal bossing, Hydrocephalus, Dolichocephaly, Hypoplasia of the corpus callosum	ORPHA:1516
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Hematuria, Renal cyst, Nephropathy	OMIM:611773
Encephalopathy, Progressive, With Or Without Lipodystrophy	Myoclonus, Tremor, Ataxia, Tetraparesis, Cerebral atrophy, Spasticity, Abnormal pyramidal sign	OMIM:615924
Arnold-Chiari Malformation Type Ii	Meningocele, Syringomyelia, Myelomeningocele, Neurogenic bladder	ORPHA:1136
Meckel Syndrome, Type 10	Hypospadias, Micropenis, Renal cyst	OMIM:614175
3-Methylglutaconic Aciduria, Type Viii	Ventriculomegaly, Tremor, Increased CSF lactate, Hypertonia, Cerebral atrophy, Secondary microcep...	OMIM:617248
Congenital Muscular Dystrophy With Cerebellar Involvement	Clonus, Diffuse white matter abnormalities, Agenesis of corpus callosum, Dilated fourth ventricle...	ORPHA:370959
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus, Stereotypy	OMIM:619575
Bor Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob...	ORPHA:107
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Progressive microcephaly, Hydrocephalus, Spastici...	OMIM:610333
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Torticollis, Head tremor, Leukoencephalopathy, Intention tremor, Hypergonadotropic h...	OMIM:613724
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Axial Osteomalacia	Renal cyst	OMIM:109130
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Fetal megacystis, Hydroureter, Megacystis	OMIM:619362
Aicardi Syndrome	Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cyst, Dandy-Walk...	OMIM:304050
Distal Monosomy 10Q	Clonus, Brachycephaly, Craniosynostosis, Inferior vermis hypoplasia, Cavum septum pellucidum, Ocu...	ORPHA:96148
Lissencephaly Syndrome, Norman-Roberts Type	Microlissencephaly, Primary microcephaly, Abnormality of calvarial morphology, 4-layered lissence...	ORPHA:89844
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Syringomyelia	ORPHA:137754
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Dysplastic corpus callosum, Anterior hypopituitarism	OMIM:601016
Prune Belly Syndrome	Urethral valve, Hydronephrosis, Hydroureter, Congenital posterior urethral valve	OMIM:100100
Developmental And Epileptic Encephalopathy 65	Plagiocephaly, Ventriculomegaly, Spasticity, Cerebral atrophy, Microcephaly	OMIM:618008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Hypoplasia of the pons, Lissencephaly, Ventriculomegaly, Pachygyria, H...	OMIM:613153
Birt-Hogg-Dube Syndrome	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Hypermanganesemia With Dystonia 2	Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Cerebral atrophy, Parkinsonism, Se...	OMIM:617013
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Hydroureter, Megacystis	OMIM:619431
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Spasticity, Recurrent hand flapping, Hypoplasia of the corpus callosum, Cerebral c...	OMIM:618859
Parkinson Disease 14, Autosomal Recessive	Clumsiness, Rigidity, Global brain atrophy, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsoni...	OMIM:612953
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly	OMIM:109120
6Q25 Microdeletion Syndrome	Plagiocephaly, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly	ORPHA:251056
Holoprosencephaly, Recurrent Infections, And Monocytosis	Holoprosencephaly, Agenesis of corpus callosum, Microcephaly, Brachycephaly	OMIM:610680
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Opisthotonus, Choreoathetosis, Spastic tetraparesis, Thi...	OMIM:619653
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly, Dysmetria, Spastic gait, Gait ataxia, Cerebral atrophy, Spastic paraplegia, Hypopl...	OMIM:615031
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia	OMIM:236500
Autosomal Dominant Spastic Paraplegia Type 42	Spinal cord lesion	ORPHA:171863
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Intellectual Developmental Disorder, Autosomal Dominant 42	Hydronephrosis	OMIM:616973
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hydronephrosis, Syringomyelia, Abnormality of bladder morphology, Vesicoureteral reflux	ORPHA:453499
Nasu-Hakola Disease	Chorea, Ventriculomegaly, Oculomotor apraxia, Hydrocephalus, Spasticity, Cerebral calcification, ...	ORPHA:2770
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Neuroectodermal Melanolysosomal Disease	Rigidity, Subcortical cerebral atrophy, Tremor, Ataxia, Hypertonia, Spasticity, Cerebellar hypopl...	ORPHA:33445
Myopathy, Congenital, Progressive, With Scoliosis	Hydronephrosis, Renal atrophy	OMIM:618578
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus	ORPHA:141333
Split Cord Malformation	Meningocele, Hydromyelia, Hypospadias, Horseshoe kidney, Hydronephrosis, Myelomeningocele, Detrus...	ORPHA:573278
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia, Abnormal cerebral white matter morphology	OMIM:618951
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Ventriculomegaly, Cavum septum pellucidum, Cerebellar ve...	OMIM:619074
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Syringomyelia, Abnormal renal morphology	ORPHA:477817
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Microcephaly	ORPHA:26
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Tremor, Hypoplasia of the corpus callosum	OMIM:616668
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Dilation of lateral ventricles, Microcephaly	OMIM:619278
Spinocerebellar Ataxia Type 31	Tremor, Gait ataxia, Spasticity	ORPHA:217012
Acromelic Frontonasal Dysostosis	Choroid plexus cyst, Brachycephaly, Ventriculomegaly, Hypopituitarism, Hypoplasia of the corpus c...	OMIM:603671
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary renal cell carcin...	OMIM:145001
Amish Lethal Microcephaly	Limb hypertonia, Ventriculomegaly, Cerebellar vermis hypoplasia, Spina bifida, Lissencephaly, Age...	ORPHA:99742
Spondylocostal Dysostosis 5	Syringomyelia	OMIM:122600
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Myoclonus, Tremor, Progressive cerebellar ataxia, Increased CSF lactate, Focal T2 hypointense bas...	ORPHA:139485
Hereditary Xanthinuria	Hydronephrosis, Decreased urinary urate, Increased urinary hypoxanthine, Xanthine nephrolithiasis...	ORPHA:3467
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Jaberi-Elahi Syndrome	Choreoathetosis, Dysmetria, Tremor, Spasticity, Gait ataxia, Agenesis of corpus callosum, Microce...	OMIM:617988
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cloverleaf skull, Large fontanelles, Platybasia, Frontal bossing, Agenesis of corpus callosum	ORPHA:93267
Autosomal Dominant Spastic Paraplegia Type 38	Spinal cord lesion	ORPHA:171617
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Microcephaly	OMIM:615286
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Myoclonus, Tremor	OMIM:611092
Parkinson Disease 15, Autosomal Recessive Early-Onset	Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s...	OMIM:260300
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Ataxia, Brachycephaly	ORPHA:404493
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Tethered cord, Syringomyelia	ORPHA:404473
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:164180
X-Linked Non Progressive Cerebellar Ataxia	Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N...	ORPHA:314978
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Polycystic kid...	OMIM:613095
Paganini-Miozzo Syndrome	Dilation of lateral ventricles	OMIM:301025
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Partial agenesis of the corpus callosum, Primary microcephaly, Cerebellar vermis hypoplasia, Apla...	OMIM:616819
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Tethered cord, Syringomyelia, Chordee	OMIM:616728
Luscan-Lumish Syndrome	Polycystic ovaries, Syringomyelia	OMIM:616831
Mental Retardation, Autosomal Dominant 36	Plagiocephaly, Ventriculomegaly, Hydrocephalus, Prominent metopic ridge, Hypoplasia of the corpus...	OMIM:616362
Spinocerebellar Ataxia 37	Tremor, Ataxia, Frequent falls	OMIM:615945
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Arnold-Chiari Malformation Type I	Urinary incontinence, Myelopathy, Syringomyelia	ORPHA:268882
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Microcephaly, Cerebral calcification	OMIM:615010
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Fetal megacystis, Hydroureter	OMIM:249210
Mucolipidosis Iv	Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly	OMIM:252650
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication	OMIM:314250
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism	ORPHA:401901
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dyspl...	OMIM:263200
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux	ORPHA:1166
Spinocerebellar Ataxia 12	Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head tremor, Parkins...	OMIM:604326
Verheij Syndrome	Renal hypoplasia, Renal agenesis, Renal cyst	OMIM:615583
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Dysmetria, Hypoplasia of the corpus callosum, Rigidity, Tremor	OMIM:618090
Papillorenal Syndrome	Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron...	OMIM:120330
Isochromosomy Yp	Male infertility, Azoospermia	ORPHA:98797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Lissencephaly, Hypoplasia of the brainstem, Progressive microcephaly, Hydrocephalus, Agyria, Cere...	OMIM:615249
Autosomal Spastic Paraplegia Type 58	Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Fasciculations, Spastic at...	ORPHA:397946
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Parkinsonism With Spasticity, X-Linked	Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism	OMIM:300911
Alagille Syndrome 2	Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency	OMIM:610205
Pyruvate Dehydrogenase Deficiency	Choreoathetosis, Cerebral palsy, Trigonocephaly, Ventriculomegaly, Tremor, Ataxia, Frontal bossin...	ORPHA:765
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly, Dysmetria, Gait ataxia, Cerebral atrophy, Hypoplasia of the corpus callosum, Micro...	ORPHA:320385
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Midface retrusion, Microcephaly	OMIM:618731
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2	Dysmetria, Global brain atrophy, Tremor, Aplasia of the inferior half of the cerebellar vermis, D...	OMIM:610185
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Agenesis of corpus callosum	OMIM:600638
Mental Retardation, Autosomal Dominant 13	Plagiocephaly, Spastic tetraplegia, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypoplasi...	OMIM:614563
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Type II lissencephaly, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Diabetic Embryopathy	Ureteral duplication, Hydronephrosis, Renal hypoplasia/aplasia, Micropenis, Spinal dysraphism	ORPHA:1926
Spinocerebellar Ataxia, Autosomal Recessive 13	Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasia, Tremor, Ataxia, Dysdiadochokines...	OMIM:614831
Nephronophthisis 4	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:606966
Intellectual Developmental Disorder, Autosomal Dominant 65	Clumsiness, Dysgenesis of the hippocampus, Noncommunicating hydrocephalus, Ataxia, Turricephaly, ...	OMIM:619320

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