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
Renal hypoplasia, Hydronephrosis, Syringomyelia, Vesicoureteral reflux 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
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