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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nfia mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Brain Malformations With Or Without Urinary Tract Defects
Syringomyelia, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
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