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Gene: Marcksl1 MGI:97143

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

MARCKS-like 1

Synonyms:

Macs-3, Macs2, Macs-2, Mrp, D4Bc1, Macs3, MacMARCKS, Mlp, F52

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Marcksl1 mutations

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

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

Human diseases associated with Marcksl1 (0 diseases)
Human diseases predicted to be associated with Marcksl1 (793 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Marcksl1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Retinal dysplasia, Type II lissencephaly	OMIM:615041
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly	ORPHA:171703
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:615938
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Spina bifida, Chorioretinal degeneration	OMIM:311000
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom...	OMIM:615937
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy...	ORPHA:2703
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc...	ORPHA:1528
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:1538
Craniofacial Conodysplasia	Spinal cord compression, Hydrocephalus	ORPHA:85168
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H...	OMIM:611603
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Abnormal cerebral w...	ORPHA:352682
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Hydrocephalus, Cortical dysplasia, Ventriculomegaly, Abnormal corpus callosum morph...	OMIM:618709
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Retinal dysplasia, Ventriculomegaly	OMIM:614830
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Optic a...	OMIM:615191
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619501
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of t...	OMIM:619302
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:303350
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Agenesis of corpus callosum	ORPHA:85334
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po...	ORPHA:250972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons,...	OMIM:613153
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Unilateral cryptorchidism, Agenesis of corpus callosum, Thin corpus callosum, Ven...	OMIM:618286
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Increased CSF lactate, Abnormal basal gang...	ORPHA:255182
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypo...	OMIM:304100
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co...	OMIM:207950
Masa Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Lissencephaly, X-Linked, 1	Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria	OMIM:300067
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Retinal dysplasia, Ventriculomegaly	ORPHA:324416
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr...	OMIM:620200
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul...	ORPHA:85179
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Small cerebral cortex, Colpocephaly, Ma...	ORPHA:2185
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:616570
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph...	ORPHA:171680
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification	ORPHA:99966
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Retinopathy, Microcephaly	ORPHA:26
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Optic atrophy, Lissencephaly, Agenesis ...	ORPHA:99742
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern, Periventricular white matte...	OMIM:619470
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the...	OMIM:616171
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hyp...	ORPHA:397951
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum	OMIM:300073
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:616540
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Reduced cerebral white matter volume, Hydrocephalus, Optic atrophy, Hypoplasia of the brainstem, ...	OMIM:618174
Joubert Syndrome 15	Retinopathy, Retinal dystrophy, Exencephaly	OMIM:614464
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Fried Syndrome	Hydrocephalus, Cerebral calcification, Abnormal optic nerve morphology	ORPHA:85335
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum	OMIM:619466
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Coach Syndrome 2	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Chorioretinal coloboma	OMIM:619111
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Optic atrophy, Cerebral atrophy, Microcephaly	OMIM:300884
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Perisylvian...	OMIM:600118
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Microcephaly, Cryptorchidism, Optic atrophy, Parietal cortical atrophy, Frontal cortical atrophy,...	OMIM:618766
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Ty...	ORPHA:370959
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Retinal dystrophy, Microcephaly, Hydrocephalus, Hypoplasia of the b...	OMIM:613155
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Abnormality of retinal pigmentation, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Agenesis of corpus callosum, Periventricular leukomalacia, Optic atrophy	OMIM:618324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalo...	OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive micr...	OMIM:615249
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ve...	OMIM:618577
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida, Microcephaly	ORPHA:64754
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Optic atrophy, Cerebral atrophy, Microcephaly	OMIM:274270
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Microhydranencephaly	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag...	OMIM:605013
Oculocerebrocutaneous Syndrome	Cryptorchidism, Orbital encephalocele, Hypoplasia of the corpus callosum, Agenesis of corpus call...	OMIM:164180
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Walker-Warburg Syndrome	Retinal detachment, Ventriculomegaly, Retinal dystrophy, Chorioretinal dysplasia, Absent septum p...	ORPHA:899
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,...	OMIM:225790
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Schisis Association	Encephalocele, Anencephaly, Spina bifida, Microcephaly	ORPHA:63862
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus...	OMIM:617542
Caudal Duplication	Cryptorchidism, Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Autosomal Recessive Primary Microcephaly	Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul...	ORPHA:2512
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, R...	ORPHA:272
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Agyria, Remnants of the hyaloid vascular sys...	OMIM:614643
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus c...	OMIM:615599
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Cryptorchidism, Agenesis of corpus callosum, Decreased testicular size,...	OMIM:615433
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern...	OMIM:615219
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Macular degeneration, Hypoplasia of the corpus ...	OMIM:604360
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Mitochondrial Complex I Deficiency, Nuclear Type 16	Agenesis of corpus callosum, Caudate atrophy, Optic atrophy, Increased CSF lactate	OMIM:618238
3Q13 Microdeletion Syndrome	Cryptorchidism, Agenesis of corpus callosum	ORPHA:1621
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp...	ORPHA:255138
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of the...	ORPHA:500144
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Optic atrophy, Simplified gyral pattern, Hypoplastic optic ...	OMIM:617669
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/...	ORPHA:1908
Pyruvate Dehydrogenase E1-Alpha Deficiency	Periventricular leukomalacia, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atr...	ORPHA:79243
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ve...	OMIM:218350
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi...	OMIM:615095
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Later...	OMIM:619517
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Pi...	OMIM:613154
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
2,4-Dienoyl-Coa Reductase Deficiency	Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Increased CSF lactate, Colpocephaly...	OMIM:616034
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Opti...	OMIM:253800
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Cerebral calcification, Microcephaly, Hydrocephalus, Ventric...	ORPHA:858
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:616602
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:250994
Diencephalic Syndrome	Hydrocephalus, Optic atrophy	ORPHA:1672
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Mild fetal ventriculomegaly, Agenesis of corpus callosum	OMIM:610498
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum	ORPHA:588
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Gómez-López-Hernández Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia	ORPHA:1532
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of...	OMIM:618603
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Cerebral hypoplasia, Cerebellar hypoplasia, P...	ORPHA:168486
Biemond Syndrome Type 2	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Ventriculomegaly, Optic nerve hypop...	OMIM:236670
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Subependymal cysts, Partial agenesis of the corpus callosum, Optic atrophy, Microcephaly	OMIM:245349
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus...	OMIM:619955
Diabetic Embryopathy	Microcephaly, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dy...	ORPHA:1926
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:615286
Hogue-Janssen Syndrome 2	Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Vent...	OMIM:616362
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Cho...	ORPHA:163961
Glycine Encephalopathy 1	Agenesis of corpus callosum	OMIM:605899
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Retinal coloboma, Spina bifida	ORPHA:2839
Foxg1 Syndrome	Optic disc hypoplasia, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum...	ORPHA:561854
Aicardi-Goutieres Syndrome 4	Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Progressiv...	OMIM:610333
Imagawa-Matsumoto Syndrome	Cryptorchidism, Umbilical hernia, Agenesis of corpus callosum, Polymicrogyria	OMIM:618786
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Periventricular leukomalacia, Microcephaly	OMIM:618302
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Cerebral atrophy, Increased CSF lactate, Basal ganglia cysts, Agenesis of corpus ca...	OMIM:312170
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus	ORPHA:73256
Aicardi Syndrome	Retinal detachment, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Pachygyria, Chorior...	OMIM:304050
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida, Microcephaly	ORPHA:1327
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Syringomyelia, Dandy-Walker malformation	OMIM:249400
Spinocerebellar Ataxia 23	Agenesis of corpus callosum	OMIM:610245
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Microcephaly, Amish Type	Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, O...	OMIM:607196
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, Abnormal retinal morphology, 4-layered lissencephaly, Microlissencephaly,...	ORPHA:89844
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Thin corpus callosum, Cerebral atrophy	OMIM:616521
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Retinal neovascularization...	OMIM:619074
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Syr...	ORPHA:63259
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ...	OMIM:614833
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Retinal coloboma, ...	ORPHA:220493
1Q44 Microdeletion Syndrome	Optic disc hypoplasia, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Hydrolethalus	Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Anencephaly, Agenesis of corpus callosum	ORPHA:2189
Baraitser-Winter Syndrome 2	Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614583
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria, Megalencephaly	ORPHA:83473
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria	OMIM:616342
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Micro...	OMIM:620157
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Frontonasal Dysplasia 1	Cranium bifidum occultum, Agenesis of corpus callosum, Anterior basal encephalocele, Pericallosal...	OMIM:136760
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Umbilical hernia, Hydrocephalus, Hypoplasia of the corpus callosum	ORPHA:1516
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Alexander Disease Type I	Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Hydrocepha...	ORPHA:363717
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism	ORPHA:2183
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly	OMIM:602501
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Lissencephaly, X-Linked, 2	Lissencephaly, Pachygyria, Agenesis of corpus callosum, Decreased testicular size, Ventriculomegaly	OMIM:300215
Neu-Laxova Syndrome 2	Spina bifida, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Ventriculomegaly	OMIM:616038
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Acromelic Frontonasal Dysplasia	Encephalocele, Cryptorchidism, Meningocele, Choroid plexus cyst, Hypoplasia of the olfactory bulb...	ORPHA:1827
Septooptic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:182230
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Lateral ventricle dilatation, Cereb...	OMIM:614219
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus, Optic atrophy, Diffuse cerebral atrophy	OMIM:245200
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:251056
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Ventriculomegaly, Spina bifida	ORPHA:1120
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Hyperintensity of ce...	OMIM:618476
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Nephronophthisis 18	Hydrocephalus, Retinitis	OMIM:615862
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:617695
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Abnormal spinal cord morphology, Hydrocephalus, Optic atrophy	ORPHA:99947
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Optic atrophy, Hydrocephalus	ORPHA:1914
Neu-Laxova Syndrome	Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnormal cortical gyration, Pachy...	ORPHA:2671
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Hypoplasi...	OMIM:616538
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Cryptorchidism, Hypogonadism, Agenesis of corpus ca...	ORPHA:228390
Glutathionuria	Agenesis of corpus callosum	OMIM:231950
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ...	OMIM:616819
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Optic atrophy, Retinopath...	ORPHA:447788
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal optic nerve morphology	ORPHA:3412
Temtamy Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Thick corpus callosum, Chorioretinal coloboma	OMIM:218340
Optic Pathway Glioma	Papilledema, Hydrocephalus, Optic atrophy	ORPHA:2086
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Optic atrophy, Colpocephaly, Secondary microcephaly, Agenes...	OMIM:620352
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co...	OMIM:620316
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si...	ORPHA:300570
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Morning glory anomaly...	OMIM:614424
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Microcephaly, Cryptorchidism, Basal ganglia calcification, Cerebellar h...	OMIM:214150
Baraitser-Winter Syndrome 1	Microcephaly, Cryptorchidism, Lissencephaly, Chorioretinal coloboma, Pachygyria, Agenesis of corp...	OMIM:243310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Type II lissencephaly, Microcephaly, Hydrocephalus, Partial absence of cerebellar ...	OMIM:613150
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hyp...	OMIM:613001
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Cryptorchidism, Simplified gyral pattern, Cerebral atrophy...	OMIM:619244
Central Precocious Puberty In Male	Hydrocephalus, Abnormality of the testis size	ORPHA:649929
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Microcephaly, Hydrocephalus, Optic atrophy, Colpocephaly, Periventricular leu...	OMIM:619833
Nasu-Hakola Disease	Hydrocephalus, Cerebral calcification, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2770
Bresek Syndrome	Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, Neonatal death, Decreased te...	ORPHA:85284
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Hemangioblastoma	Retinal capillary hemangioma, Hydrocephalus, Spinal hemangioblastoma	ORPHA:252054
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Spina bifida, Microcephaly, Hydrocephalus, Hydrocele testis, Umbilical ...	OMIM:613776
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum	ORPHA:3301
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Dysplastic corpus callosum, H...	OMIM:617281
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Retinal degeneration	OMIM:615630
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Ce...	OMIM:243605
X-Linked Lissencephaly With Abnormal Genitalia	Microcephaly, Cryptorchidism, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:452
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Agenesis of corpus callosum, Diffuse white matter abnormalities, Increased CSF protein concentrat...	OMIM:218000
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agenesis of corpus ca...	ORPHA:220497
Halperin-Birk Syndrome	Optic atrophy, Colpocephaly, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly, Sem...	OMIM:618651
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic ...	OMIM:603671
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Megalencephaly, Hydrocephalus, Thick corpus callosum, Hypoplasia of the corpus callosum, Pachygyr...	OMIM:603387
Cerebrocostomandibular Syndrome	Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocele, Meningocele, Porencephalic ...	ORPHA:1393
Trisomy 18	Abnormality of retinal pigmentation, Spina bifida, Microcephaly, Cryptorchidism, Anencephaly, Apl...	ORPHA:3380
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Optic atrophy, Microcephaly	OMIM:618346
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Optic atrophy	ORPHA:93262
Curry-Jones Syndrome	Optic disc coloboma, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Pigmentary retinopathy, Umbilical hernia, Agenesis of corpus callosum, Dandy-Walke...	OMIM:612582
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh...	ORPHA:468631
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Brain Malformations With Or Without Urinary Tract Defects	Syringomyelia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:613735
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ...	OMIM:601707
Vici Syndrome	Abnormality of retinal pigmentation, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia...	ORPHA:1493
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microcephaly, Abnormal optic disc morphology, Retinal colob...	ORPHA:508498
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Combined Oxidative Phosphorylation Deficiency 24	Microcephaly, Optic atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum, Agenesis o...	OMIM:616239
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Primary microcephaly	ORPHA:466688
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, V...	OMIM:609757
4Q21 Microdeletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:238750
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Aplasia/Hypoplasia...	ORPHA:2318
Emanuel Syndrome	Ventriculomegaly, Microcephaly, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Abnormal cerebra...	ORPHA:96170
Multiple Sulfatase Deficiency	Hydrocephalus, Cerebral atrophy, Abnormal periventricular white matter morphology, Retinal degene...	OMIM:272200
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Retinal dystrophy, Microcephaly, Cerebral...	OMIM:615802
Microphthalmia With Brain And Digit Anomalies	Retinal dystrophy, Microcephaly, Cryptorchidism, Chorioretinal coloboma, Inferior cerebellar verm...	ORPHA:139471
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Retinal coloboma, Polymicr...	OMIM:619775
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ga...	OMIM:304340
Trisomy 1Q	Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:261344
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Cerebellar hypopla...	OMIM:264480
Holoprosencephaly 14	Ventriculomegaly, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microc...	OMIM:619895
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Pontocerebellar Hypoplasia, Type 7	Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Optic atrophy, Cerebral atrophy, Hypoplasi...	OMIM:614969
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cryptorchidism, Hydrocephalus, Cerebral atrophy, Abnormal septum pellucidum morphology, Umbilical...	ORPHA:171839
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Partial agenesis of the corpus callosum, Aplasia/Hypoplasi...	OMIM:222448
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Mosaic Trisomy 9	Spina bifida, Microcephaly, Cryptorchidism, Dandy-Walker malformation, Ventriculomegaly	ORPHA:99776
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618619
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Optic disc hypoplasia, Hydrocephalus, Hypogonadism, Cerebellar hy...	OMIM:300514
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Microcephaly	OMIM:300558
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Microcephaly	OMIM:241800
Infantile Sialic Acid Storage Disease	Hydrocephalus, Cerebral atrophy	OMIM:269920
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame...	ORPHA:25
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Retinal co...	OMIM:616546
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Microcephaly	ORPHA:398189
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum,...	ORPHA:1812
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Cerebellar hypoplasia	ORPHA:207
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:990
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Ventriculomegaly	ORPHA:60040
Neu-Laxova Syndrome 1	Ventriculomegaly, Hydranencephaly, Spina bifida, Cryptorchidism, Choroid plexus cyst, Stillbirth,...	OMIM:256520
Rabin-Pappas Syndrome	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Micro...	OMIM:620155
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Pagod Syndrome	Encephalocele, Spina bifida, Microcephaly, Meningocele, Optic atrophy, Abnormal testis morphology	ORPHA:991
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventriculomegaly, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Cerebellar hypoplasia, Hy...	OMIM:301056
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Agnathia-Otocephaly Complex	Agenesis of corpus callosum, Holoprosencephaly	OMIM:202650
Triploidy	Cryptorchidism, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holoprosen...	ORPHA:3376
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Macrogyria, Li...	ORPHA:35107
47,Xyy Syndrome	Male infertility, Macroorchidism, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Co...	ORPHA:8
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy, Lateral ventric...	OMIM:617296
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Hydrocephalus	ORPHA:2181
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Hypopla...	OMIM:614576
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus ...	OMIM:609053
Isolated Posterior Meningocele	Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,...	ORPHA:268810
Hec Syndrome	Abnormal retinal vascular morphology, Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Pigmentary retinopathy, Colpocephaly, Chor...	OMIM:309801
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Trisomy 20P	Macroorchidism, Cryptorchidism, Umbilical hernia, Spina bifida	ORPHA:261318
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida, Hypopigmentation of the fundus	OMIM:193500
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Cryptorchidism, Agenesis of corpus callosum, Optic atrophy, Microcephaly	OMIM:300004
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Spina bifida occulta, Small cerebral cortex, Hypoplasia of the corpus callosum, Per...	OMIM:617360
Temple Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:254516
16P13.11 Microdeletion Syndrome	Microcephaly, Cryptorchidism, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:261236
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph...	ORPHA:157
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m...	ORPHA:2369
Sacral Defect With Anterior Meningocele	Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy...	OMIM:600145
Mosaic Variegated Aneuploidy Syndrome 1	Hypodysplasia of the corpus callosum, Microcephaly, Cryptorchidism, Hydrocephalus, Cerebral hypop...	OMIM:257300
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu...	OMIM:619720
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Hallermann-Streiff Syndrome	Spina bifida, Microcephaly, Cryptorchidism, Optic disc coloboma, Chorioretinal coloboma	OMIM:234100
Gorlin Syndrome	Cryptorchidism, Hydrocephalus, Cerebral calcification, Hypogonadotropic hypogonadism	ORPHA:377
Apert Syndrome	Absent septum pellucidum, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum, Ventriculome...	ORPHA:87
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Pachygyria, Exencephaly, Macrogyria, Lissencephaly, Po...	ORPHA:2211
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Holoprosencephaly	Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Optic atrophy, Spinal cord tumor, Spi...	ORPHA:2162
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Retinal dystrophy...	OMIM:608091
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, ...	ORPHA:1647
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Testicular neoplasm, Microcephaly, Cryptorchidism, Hydrocephalus, Optic atrophy, Du...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Testicular neoplasm, Microcephaly, Cryptorchidism, Hydrocephalus, Optic atrophy, Du...	ORPHA:363958
Fg Syndrome 3	Cryptorchidism, Agenesis of corpus callosum	OMIM:300406
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cryptorchidism, Agenesis of corpus callosum, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:147950
Duplication Of The Pituitary Gland	Encephalocele, Microcephaly, Hypoplasia of olfactory tract, Congenital stationary night blindness...	ORPHA:314621
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Cryptorchidism, Subcortical cerebral atrophy, Cerebral co...	ORPHA:96147
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus	ORPHA:2701
Ritscher-Schinzel Syndrome 4	Cryptorchidism, Mild fetal ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:619435
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Retinal dystrophy, Microcephaly, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agen...	OMIM:619512
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ...	ORPHA:457284
Fumarase Deficiency	Microcephaly, Optic atrophy, Choroid plexus cyst, Cerebral atrophy, Hypoplasia of the brainstem, ...	OMIM:606812
Sturge-Weber Syndrome	Retinal detachment, Cerebral calcification, Abnormal retinal vascular morphology, Hydrocephalus, ...	ORPHA:3205
Lumbar Syndrome	Cryptorchidism, Myelomeningocele, Spina bifida	ORPHA:83628
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Microcephaly, Tethered cord, Spinal dysraphism	OMIM:617660
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Microcephaly	ORPHA:585
Jacobsen Syndrome	Spina bifida, Cryptorchidism, Cerebral atrophy, Pachygyria, Agenesis of corpus callosum, Ventricu...	ORPHA:2308
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Holoprosencephaly,...	OMIM:612651
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the brainstem, Progressive microcephaly, Hypoplasia of the corpus callosum, Hyperin...	ORPHA:481152
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Microcephaly, Atrophy of the spinal cord, Hydrocephalus, Optic atrophy, Abnormal cerebral white m...	ORPHA:395
Basal Cell Nevus Syndrome 1	Calcification of falx cerebri, Hydrocephalus, Spina bifida	OMIM:109400
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microcephaly, Cryptorchidism, Anencephaly, Agenesis of corpus callosum, Dandy-Walk...	OMIM:619148
Phakomatosis Pigmentokeratotica	Cryptorchidism, Spina bifida	ORPHA:2874
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly, Cryptorchidism, Hydroc...	ORPHA:500055
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma	ORPHA:268249
Albers-Schönberg Osteopetrosis	Hydrocephalus, Optic atrophy	ORPHA:53
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene...	OMIM:616449
Peho Syndrome	Microcephaly, Hydrocephalus, Porencephalic cyst, Optic atrophy, Cerebral cortical atrophy, Ventri...	ORPHA:2836
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Increased CSF alanine concentration, Increased CSF citrulline conc...	ORPHA:3008
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Decreased fertility, Cerebr...	OMIM:234050
Marden-Walker Syndrome	Microcephaly, Cryptorchidism, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebe...	OMIM:248700
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Microcephaly	OMIM:613330
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Hydrocephalus, Rod-cone dystrophy, Abnormal sperm motility,...	ORPHA:244
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesi...	OMIM:620305
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ...	OMIM:620113
Beare-Stevenson Cutis Gyrata Syndrome	Agenesis of corpus callosum, Hydrocephalus, Optic atrophy, Ventriculomegaly	OMIM:123790
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc...	ORPHA:91348
Dural Sinus Malformation	Papilledema, Myelopathy, Hydrocephalus, Hypoplasia of the frontal lobes, Cerebral edema	ORPHA:97339
Desmosterolosis	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:602398
Focal Dermal Hypoplasia	Umbilical hernia, Spina bifida, Chorioretinal coloboma	ORPHA:2092
Temple Syndrome	Cryptorchidism, Hydrocephalus, Decreased testicular size	OMIM:616222
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Lissencephaly, Secondary microcephaly, Umbilical hernia, Dandy-Wal...	OMIM:612938
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Cryptorchidism, Aplasia/...	ORPHA:3157
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Cryptorchidism, Secondary microcephaly, Hypoplasia of the corpus ca...	OMIM:620073
B4Galt1-Cdg	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:79332
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Tethered cord, Thin corpus callosum, Spina bifida	OMIM:619480
Methylcobalamin Deficiency Type Cble	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of the brainst...	ORPHA:2169
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Hydrocephalus, Abnormal vitreous humor morphology, M...	ORPHA:1571
Chromosome 14Q11-Q22 Deletion Syndrome	Lateral ventricular asymmetry, Unilateral cryptorchidism, Microcephaly, Bilateral cryptorchidism,...	OMIM:613457
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hydrocephalus, Optic atrophy, Umbilical hernia, Yellow/white lesions of ...	ORPHA:93400
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha...	OMIM:301043
15Q Overgrowth Syndrome	Hydrocephalus, Syringomyelia, Congenital stationary night blindness, Agenesis of corpus callosum,...	ORPHA:314585
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, L...	OMIM:610828
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Aplasia/Hypoplasia of the corpus call...	ORPHA:475
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar vermis hypoplasia, Hydrocephalus, Optic atrophy, Cerebral atrophy, Cerebellar hypoplas...	OMIM:618590
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Fanconi Anemia, Complementation Group R	Hydrocephalus, Tethered cord, Microcephaly	OMIM:617244
Fanconi Anemia	Spina bifida, Microcephaly, Cryptorchidism, Hydrocephalus, Azoospermia, Decreased fertility in ma...	ORPHA:84
Rhombencephalosynapsis	Septo-optic dysplasia, Agenesis of cerebellar vermis, Hydrocephalus, Ventriculomegaly	ORPHA:59315
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Tetrasomy 15Q26	Hydrocephalus, Syringomyelia, Dandy-Walker malformation	OMIM:614846
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brainstem, Lissenceph...	OMIM:617822
Chromosome 13Q14 Deletion Syndrome	Absent septum pellucidum, Cryptorchidism, Umbilical hernia, Holoprosencephaly, Chorioretinal colo...	OMIM:613884
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Basal Cell Nevus Syndrome 2	Hydrocephalus, Calcification of falx cerebri	OMIM:620343
Emanuel Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Hypoplasia of the corpus callosum,...	OMIM:609029
Ring Chromosome 22 Syndrome	Azoospermia, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:1446
Birk-Landau-Perez Syndrome	Agenesis of corpus callosum, Pachygyria, Optic atrophy, Microcephaly	OMIM:617595
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ...	ORPHA:314679
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Microcephaly, Partial agenesis of the co...	ORPHA:50
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Retinitis, Microcephaly, Cryptorchidism, P...	OMIM:615948
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
3C Syndrome	Ventriculomegaly, Hydrocephalus, Optic atrophy, Chorioretinal coloboma, Aplasia/Hypoplasia of the...	ORPHA:7
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620250
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Toriello-Carey Syndrome	Microcephaly, Cryptorchidism, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplas...	ORPHA:3338
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Optic disc coloboma, Aplasi...	ORPHA:1454
Plasminogen Deficiency, Type I	Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Arachnoiditis	Hydrocephalus	ORPHA:137817
22Q11.2 Deletion Syndrome	Spina bifida, Microcephaly, Retinal arteriolar tortuosity, Cryptorchidism, Hydrocephalus, Meningo...	ORPHA:567
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the brainstem, Abnormal optic nerve morphology, Hypoplasia of the cor...	OMIM:605039
Immunodeficiency 49	Umbilical hernia, Agenesis of corpus callosum, Reduced cerebral white matter volume	OMIM:617237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Type II lissencephaly, Microcephaly, Hydrocephalus, Optic atro...	OMIM:253280
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu...	OMIM:618500
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:250989
Melas	Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia cal...	ORPHA:550
Microform Holoprosencephaly	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	ORPHA:280200
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Hydrocephalus	ORPHA:2969
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:563612
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism	OMIM:603546
Peroxisome Biogenesis Disorder 5A (Zellweger)	Pachygyria, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Macrogyria, Pigmentary retinopa...	OMIM:614866
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Cryptorchidism, Dysplastic corpus callosum, Chordee, Spina bifida occulta, Agenesis...	OMIM:151050
Split Cord Malformation	Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc...	ORPHA:573278
Fibular Hemimelia	Spina bifida	ORPHA:93323
Intellectual Developmental Disorder, Autosomal Dominant 22	Agenesis of corpus callosum, Choroid plexus cyst, Microcephaly	OMIM:612337
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr...	OMIM:617260
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Megalencephaly, Hydrocephalus, Irregular menstruation, Hypoplasia of the corpus callosum, Neonata...	OMIM:616482
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Optic atrophy	OMIM:259710
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l...	ORPHA:506
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Intellectual Disability-Strabismus Syndrome	Cryptorchidism, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:363528
Trichothiodystrophy	Periventricular leukomalacia, Cerebral dysmyelination, Microcephaly, Cryptorchidism, Partial agen...	ORPHA:33364
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Absent septum pellucidum, Cryptorchidism, Dysplastic corpus callosum, Colpocephaly,...	OMIM:618820
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Cerebellar hypoplasia	ORPHA:163966
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Marshall-Smith Syndrome	Optic nerve hypoplasia, Absent septum pellucidum, Bilateral cryptorchidism, Cryptorchidism, Hydro...	OMIM:602535
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Ulnar Hemimelia	Spinal dysraphism	ORPHA:93320
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Macular atrophy, Microcephaly, Primary amenorrhea, Hypoplasia of the corpus callosum, Agenesis of...	OMIM:619418
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Posterior fossa cyst at the fourth ventricle, Sp...	ORPHA:2356
Alexander Disease	Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus ca...	ORPHA:58
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Hydrocephalus, Optic atrophy, Microcephaly	ORPHA:220295
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Temporal lobe dysplasia	OMIM:187600
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Ocular albinism	ORPHA:2720
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ...	OMIM:608836
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum	OMIM:613174
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Optic disc coloboma, Agenesis of corpus callosum	ORPHA:52055
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Microcephaly, Hydrocephalus, Diffuse white matter abnormalities, Optic atrophy...	OMIM:259720
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Pancreatic Agenesis-Holoprosencephaly Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly	ORPHA:556955
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, A...	OMIM:101200
Tenorio Syndrome	Cavum septum pellucidum, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly	OMIM:616260
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Spinal dysraphism	OMIM:612918
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Radio-Tartaglia Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:619312
Lateral Meningocele Syndrome	Tethered cord, Cryptorchidism, Hydrocephalus, Meningocele, Dural ectasia, Syringomyelia, Umbilica...	OMIM:130720
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Microcephaly, Cryptorchidism, Partial agenesis of the corpus callosum, Dysp...	OMIM:619103
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Absent septum pe...	ORPHA:2556
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Optic disc coloboma, Agenesis of corpus callosum	OMIM:300472
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hydrocephalus, Cervical cord compression, Umbil...	OMIM:309900
Lowry-Maclean Syndrome	Bilateral cryptorchidism, Hydrocephalus, Microcephaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2409
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Fg Syndrome Type 1	Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum,...	ORPHA:93932
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation	OMIM:612301
Neonatal Lupus Erythematosus	Basal ganglia calcification, Hydrocephalus, Abnormal cerebral white matter morphology	ORPHA:398124
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Agenesis of corpus callosum, Retinal pigment epithelial mottling	OMIM:618733
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocepha...	OMIM:605627
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ...	ORPHA:464738
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Ischemic stroke, Increased CSF lactate	ORPHA:90065
Intellectual Developmental Disorder, Autosomal Recessive 65	Cryptorchidism, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum	OMIM:618109
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Exstrophy-Epispadias Complex	Spina bifida, Microcephaly, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual...	ORPHA:322
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Hydrocephalus, Hypoplasia of the co...	OMIM:227646
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Microcephaly, Atrophy of the spinal cord, Hydrocephalus, Optic atrophy, Cerebra...	ORPHA:79282
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618872
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Syringomyelia, Cerebellar hypoplasia, Cavum septum pe...	OMIM:274000
Holoprosencephaly 9	Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Cryptorchidism, Hydrocephalus, ...	OMIM:610829
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Cerebral atrophy, Microcephaly	OMIM:614886
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce...	OMIM:311200
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Occipital meningocele, Polymicrogyria, Agenesis...	OMIM:277170
Kleefstra Syndrome	Microcephaly, Cryptorchidism, Agenesis of corpus callosum, Cerebral cortical atrophy, Ventriculom...	ORPHA:261494
Bohring-Opitz Syndrome	Retinal atrophy, Microcephaly, Optic atrophy, Hypoplasia of the corpus callosum, Dandy-Walker mal...	ORPHA:97297
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus, Microcephaly	ORPHA:1865
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Microcephaly, Cryptorchidism...	OMIM:249000
Genitopalatocardiac Syndrome	Cryptorchidism, Hydrocephalus, Microcephaly	ORPHA:2075
Meckel Syndrome	Encephalocele, Abnormal chorioretinal morphology, Microcephaly, Cryptorchidism, Hydrocephalus, Op...	ORPHA:564
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Optic atrophy	OMIM:259700
Sotos Syndrome	Cryptorchidism, Partial agenesis of the corpus callosum, Cavum septum pellucidum, Ventriculomegaly	OMIM:117550
Rubinstein-Taybi Syndrome 1	Spina bifida, Microcephaly, Bilateral cryptorchidism, Cryptorchidism, Hyperintensity of cerebral ...	OMIM:180849
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus call...	ORPHA:2166
Hartsfield Syndrome	Alobar holoprosencephaly, Microcephaly, Cryptorchidism, Lobar holoprosencephaly, Agenesis of corp...	OMIM:615465
Crouzon Syndrome	Hydrocephalus, Optic atrophy	OMIM:123500
Cryptococcosis	Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormal optic nerve morphology, Prostatiti...	ORPHA:1546
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Umbilical hernia	OMIM:601499
Fryns Syndrome	Cryptorchidism, Dandy-Walker malformation, Agenesis of corpus callosum, Cerebral cortical atrophy...	ORPHA:2059
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Opitz Gbbb Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Cryptorchidism, Hypoplasia of the corp...	ORPHA:2745
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Porencephalic cyst, Periventricular leukomalacia	ORPHA:974
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Cryptorchidism, Agenesis of corpus callosum	OMIM:618929
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Umbilical hernia, Optic atrophy	ORPHA:1555
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Histiocytoid Cardiomyopathy	Agenesis of corpus callosum, Hydrocephalus, Optic atrophy	ORPHA:137675
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Monosomy 18Q	Abnormal retinal morphology, Microcephaly, Bilateral cryptorchidism, Hydrocephalus, Diffuse white...	ORPHA:1600
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Myelopathy, Epiretinal membrane, Hydr...	ORPHA:637
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2378
Orofaciodigital Syndrome V	Agenesis of corpus callosum, Optic disc coloboma, Unilateral cryptorchidism, Microcephaly	OMIM:174300
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Absent septum pellu...	ORPHA:95494
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Umbilical hernia, Agenesis of corpus ...	OMIM:300000
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microcephaly, Megalencephaly, Hydrocephalus, Hydrocele testis, Ventriculomegaly	OMIM:613603
Craniopharyngioma	Papilledema, Cerebral calcification, Hypogonadotropic hypogonadism, Hydrocephalus, Optic atrophy,...	ORPHA:54595
Ring Chromosome 13 Syndrome	Abnormal retinal morphology, Microcephaly, Anencephaly, Retinoblastoma, Agenesis of corpus callosum	ORPHA:96176
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus	OMIM:314390
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Monosomy 13Q34	Agenesis of corpus callosum, Metrorrhagia, Microcephaly	ORPHA:96168
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Rod-cone dystrophy, Cerebral atrophy	OMIM:616084
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:96092
Opitz-Kaveggia Syndrome	Cryptorchidism, Hydrocephalus, Umbilical hernia, Partial agenesis of the corpus callosum	OMIM:305450
Distal Triplication 15Q	Hydrocele testis, Hydrocephalus, Syringomyelia, Dandy-Walker malformation	ORPHA:314588
Trisomy 17P	Hydrocephalus, Microcephaly	ORPHA:261290
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Agenesis of corpus callosum, Ventriculomegaly, Cryptorchidism	ORPHA:264200
Tetrasomy 5P	Pericallosal lipoma, Hydrocephalus, Cerebellar hypoplasia	ORPHA:3309
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Cerebral cortical atrophy	ORPHA:1834
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Bilateral cryptorchidism, Partial agenesis of the corpus ...	ORPHA:434179
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cryptorchidism, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:217980
Jacobsen Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Optic atrophy, Macular hypoplasia, Holoprosencephaly...	OMIM:147791
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Microcephaly, Cryptorchidism, Optic atrophy, Agenesis of corpus callosum, Cerebral cortical atrophy	ORPHA:847
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Severe hydrocephal...	OMIM:236680
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Spinal dysraphism	ORPHA:175
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Macular atrophy, Microcephaly, Ocular albinism, Mac...	OMIM:242840
Microphthalmia, Syndromic 3	Optic nerve aplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Microcephaly, Cryptor...	OMIM:206900
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Monosomy 9Q22.3	Hydrocephalus, Calcification of falx cerebri, Umbilical hernia, Retinopathy, Ventriculomegaly	ORPHA:77301
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Hydrocephalus, Cerebral cortical atrophy, Microcephaly	OMIM:277400
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Microcephaly, Holoprosencephal...	OMIM:157170
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ...	ORPHA:2461
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Hydrocephalus, Optic atrophy, Irregular menstruation, Hypogonadism	OMIM:101800
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Xp21 Deletion Syndrome	Agenesis of corpus callosum, Hypogonadotropic hypogonadism	ORPHA:261476
Lenz-Majewski Hyperostotic Dwarfism	Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Hypogonadism, Agenesis of corpus callosum	ORPHA:2658
Trisomy 8P	Microcephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:264450
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria	ORPHA:65285
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Cryptorchidism, Hydrocephalus	OMIM:619951
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Agenesis of corpus callosum	OMIM:309520
Hurler Syndrome	Umbilical hernia, Hydrocephalus, Retinal degeneration	OMIM:607014
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Optic atrophy, Hypoplasia...	OMIM:619321
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Cerebral cortical atrophy	OMIM:239300
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Optic nerve compression, Hypogonadotropic hypogonadism	ORPHA:91350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Branchial anomaly, Abnormal optic nerve mor...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Branchial anomaly, Abnormal optic nerve mor...	ORPHA:352665
Mirage Syndrome	Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism, Decreased testicular size	OMIM:617053
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Optic nerve dysplasia, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of th...	OMIM:115150
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Spina bifida occulta, Partial agenesis of the corpus callosum	OMIM:300373
Craniofrontonasal Syndrome	Cryptorchidism, Umbilical hernia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Genitopatellar Syndrome	Cryptorchidism, Agenesis of corpus callosum, Microcephaly	ORPHA:85201
Otopalatodigital Syndrome, Type Ii	Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia	OMIM:304120
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Whipple Disease	Hydrocephalus, Erectile dysfunction	ORPHA:3452
Mucopolysaccharidosis Type 1	Retinopathy, Hydrocephalus, Optic atrophy	ORPHA:579
Acrocallosal Syndrome	Cryptorchidism, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Agene...	OMIM:200990
Achondroplasia	Hydrocephalus	ORPHA:15
Ciliary Dyskinesia, Primary, 1	Male infertility, Communicating hydrocephalus	OMIM:244400
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Dural ectasia	OMIM:616914
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Congenital Myopathy 22A, Classic	Neonatal death, Normal pressure hydrocephalus	OMIM:620351
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Retinal vascular malformation, Cerebellar hypoplasia, Agene...	ORPHA:42775
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Holoprosencephaly 1	Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c...	OMIM:236100
Otopalatodigital Syndrome Type 2	Encephalocele, Cerebellar hypoplasia, Myelomeningocele, Hydrocephalus	ORPHA:90652
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:93924
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:220386
Mosaic Trisomy 8	Cryptorchidism, Agenesis of corpus callosum, Decreased testicular size	ORPHA:96061
Short-Rib Thoracic Dysplasia 12	Neonatal death, Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Focal Dermal Hypoplasia	Microcephaly, Cryptorchidism, Hydrocephalus, Myelomeningocele, Optic atrophy, Chorioretinal colob...	OMIM:305600
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, C...	OMIM:619841
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Cockayne Syndrome A	Retinal atrophy, Microcephaly, Retinal pigment epithelial mottling, Cryptorchidism, Basal ganglia...	OMIM:216400
Cardiofaciocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Optic atrophy, Cerebral cortical atrophy	ORPHA:1340
21Q22.11Q22.12 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:261323
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Wolf-Hirschhorn Syndrome	Tethered cord, Microcephaly, Cryptorchidism, Optic atrophy, Agenesis of corpus callosum, Aplasia/...	ORPHA:280
H Syndrome	Hydrocephalus, Azoospermia, Hypogonadism, Decreased testicular size, Amenorrhea	ORPHA:168569
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Cerebral white matter ...	ORPHA:168577
Vater/Vacterl Association	Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus	OMIM:192350
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Microcephaly, Cryptorchidism, Hydrocephalus, Optic disc coloboma, Optic atroph...	OMIM:607872
Icf Syndrome	Communicating hydrocephalus, Umbilical hernia	ORPHA:2268
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Wolf-Hirschhorn Syndrome	Tethered cord, Absent septum pellucidum, Microcephaly, Cryptorchidism, Hydrocephalus, Periventric...	OMIM:194190
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Hydrocephalus, Cerebral calcification, Optic atrophy	ORPHA:505248
Mucopolysaccharidosis Type 3	Ventriculomegaly, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Umbilical hernia, Rod-con...	ORPHA:581
7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Simplified gyral pattern, Abnormal optic disc morphology, Cerebell...	ORPHA:96121
Hurler Syndrome	Hydrocephalus, Retinopathy	ORPHA:93473
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Microcephaly, Cryptorchidism, Hydrocephalus, Partial agenesis of the co...	OMIM:270400
Mohr Syndrome	Hydrocephalus, Porencephalic cyst	OMIM:252100
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Dubowitz Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spina bif...	ORPHA:235
Myoectodermal Gonadal Dysgenesis Syndrome	Rod-cone dystrophy, Agenesis of corpus callosum	OMIM:618419
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Achondroplasia	Hydrocephalus, Megalencephaly	OMIM:100800
Brain-Lung-Thyroid Syndrome	Cavum septum pellucidum, Agenesis of corpus callosum, Microcephaly	ORPHA:209905
Coccidioidomycosis	Abnormal retinal morphology, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnorm...	ORPHA:228123
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Umbilical hernia, Agenesis of corpus callosum, Hypogonadotropic hypogonadism, Optic nerve hypoplasia	ORPHA:226307
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Cerebral cortical atrophy	OMIM:616007
Baller-Gerold Syndrome	Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Spina bifida occulta, Agenesis of corpus ca...	OMIM:218600
Aymé-Gripp Syndrome	Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Vent...	ORPHA:1272
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Umbilical hernia, Microcephaly	OMIM:182212
Medulloblastoma	Hydrocephalus, Spinal cord tumor	ORPHA:616
Mend Syndrome	Cryptorchidism, Hydrocephalus, Macular hypoplasia, Dandy-Walker malformation	OMIM:300960
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Hydrocephalus	OMIM:104350
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Raine Syndrome	Neonatal death, Hydrocephalus, Cerebral calcification, Microcephaly	OMIM:259775
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Microcephaly, Cryptorchidism, Large placenta, Spinal dysraph...	ORPHA:96334
Fryns Syndrome	Cryptorchidism, Hypoplasia of the optic tract, Stillbirth, Hypoplasia of olfactory tract, Agenesi...	OMIM:229850
Coffin-Siris Syndrome	Microcephaly, Cryptorchidism, Simplified gyral pattern, Agenesis of corpus callosum, Dandy-Walker...	ORPHA:1465
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Cryptorchidism, Large basal gangli...	OMIM:235730
1P36 Deletion Syndrome	Microcephaly, Cryptorchidism, Optic atrophy, Ocular albinism, Hypogonadism, Agenesis of corpus ca...	ORPHA:1606
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Megalencephaly, Thick corpus callosum, Cerebral cortical atrophy, Ve...	OMIM:617011
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Retinal arteriolar tortuosity, Hydrocephalus, Porencephalic cyst, Cortical dyspla...	OMIM:175780
Mucopolysaccharidosis, Type Vii	Umbilical hernia, Hydrocephalus	OMIM:253220
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Cryptorchidism, Decreased fertility, Abnormality of the Leydig cells, Agenesis of corpus callosum...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Cryptorchidism, Decreased fertility, Abnormality of the Leydig cells, Agenesis of corpus callosum...	ORPHA:289548
Mend Syndrome	Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Dandy-Walker malformation	ORPHA:401973
Yunis-Varon Syndrome	Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Primary mi...	ORPHA:3472
Dextrocardia	Hydrocephalus	ORPHA:1666
Isotretinoin-Like Syndrome	Hydrocephalus, Microcephaly	ORPHA:2306
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Gabriele-De Vries Syndrome	Cryptorchidism, Abnormal cerebral white matter morphology, Hypoplasia of the corpus callosum, Age...	ORPHA:506358
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Microcephaly, Cryptorchidism, Hydrocephalus, Optic disc coloboma	ORPHA:261337
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Microcephaly, Cryptorchidism, Umbilical hernia, Ventriculomegaly	ORPHA:2462
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Peters-Plus Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Retinal coloboma, Umbilical hernia...	OMIM:261540
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal mo...	ORPHA:580
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Cryptorchidism, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Fetal Akinesia Deformation Sequence 1	Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Stillbirth, Short umbilical cord, Small ...	OMIM:208150
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Optic atroph...	ORPHA:3455
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus, Umbilical hernia	OMIM:253200
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Hydrocephalus, Azoospermia, Hypoplasia of the corpus callosum, Ventriculomegaly	ORPHA:2072
Simpson-Golabi-Behmel Syndrome	Cryptorchidism, Umbilical hernia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Tetrasomy 9P	Abnormal chorioretinal morphology, Cryptorchidism, Hydrocephalus, Abnormal spinal cord morphology...	ORPHA:3310
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Megalencephaly, Diffuse white matter abnormalities, Thick corpus cal...	ORPHA:457359
Kabuki Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2322
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Umbilical hernia, Ventriculomegaly	OMIM:618188
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Microcephaly	ORPHA:163979
Cockayne Syndrome B	Microcephaly, Basal ganglia calcification, Cryptorchidism, Optic atrophy, Cerebral atrophy, Pigme...	OMIM:133540
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus, Peripapillary atrophy	ORPHA:536467
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Lymphangioleiomyomatosis	Retinal hamartoma, Hydrocephalus, Optic atrophy	ORPHA:538
Meningioma	Papilledema, Hypogonadotropic hypogonadism, Hydrocephalus, Impotence, Amenorrhea	ORPHA:2495
Gaucher Disease	Hydrocephalus, Abnormal macular morphology, Cherry red spot of the macula, Retinopathy, Ventricul...	ORPHA:355
Fanconi Anemia, Complementation Group L	Hydrocephalus, Cerebellar hypoplasia	OMIM:614083
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Cryptorchidism, Hydrocephalus, Decreased fertility, Primary amenorrhea, Oligozoospermia, Stillbirth	ORPHA:95699
Perlman Syndrome	Cryptorchidism, Agenesis of corpus callosum	OMIM:267000
Orofaciodigital Syndrome Type 1	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
Degcags Syndrome	Microcephaly, Cryptorchidism, Chordee, Agenesis of corpus callosum, Ventriculomegaly	OMIM:619488
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Optic disc pallor, Subcortical cerebral atrophy, Umbilical hernia, C...	ORPHA:309282
Monosomy 9P	Cryptorchidism, Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:264090
Oeis Complex	Cryptorchidism, Myelomeningocele, Tethered cord, Hydrocephalus	OMIM:258040
Peters Plus Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia of the corpus call...	ORPHA:709
Coffin-Siris Syndrome 1	Microcephaly, Cryptorchidism, Partial agenesis of the corpus callosum, Hypoplasia of the corpus c...	OMIM:135900
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus, Optic atrophy	ORPHA:1106
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Cerebellar hypoplasia, Myelomeningocele, Hydrocephalus	OMIM:306955
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Microcephaly	OMIM:154400
Fraser Syndrome 1	Encephalocele, Abnormal cortical gyration, Microcephaly, Cryptorchidism, Myelomeningocele, Hydroc...	OMIM:219000
Microgastria-Limb Reduction Defect Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Retinal hamartoma, Cortical dysplasia, Noncommunicating hydrocephal...	ORPHA:805
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261537
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Hydrocephalus, Chorioretinal coloboma, Cryptorchidism	ORPHA:636
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia,...	OMIM:612289
Hajdu-Cheney Syndrome	Cryptorchidism, Hydrocephalus, Umbilical hernia	OMIM:102500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261552
Genitopatellar Syndrome	Microcephaly, Cryptorchidism, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus ...	OMIM:606170
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Optic nerve compression	ORPHA:667
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Microcephaly, Hydrocephalus, Chorioretinal coloboma, Decreased CSF 5-methyltetrahydrofolate conce...	OMIM:619475
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Cryptorchidism, Subcortical cerebral atrophy, Cerebellar ...	ORPHA:2273
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha...	ORPHA:2152
Hajdu-Cheney Syndrome	Umbilical hernia, Hydrocephalus, Syringomyelia	ORPHA:955
Monosomy 22Q13.3	Umbilical hernia, Agenesis of corpus callosum	ORPHA:48652
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Cryptorchidism, Hydrocephalus, Umbilical hernia, Agenesis of corpus...	OMIM:312870
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Cryptorchidism, Agenesis of corpus callosum	OMIM:618748
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cryptorchidism, Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus callosum, Ve...	ORPHA:93271
Townes-Brocks Syndrome 1	Tethered cord, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Chorioretinal colo...	OMIM:107480
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus, Hypogonadism	ORPHA:3042
Pseudoaminopterin Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:221120
Osteogenesis Imperfecta	Hydrocephalus, Noncommunicating hydrocephalus, Syringomyelia, Umbilical hernia, Ventriculomegaly	ORPHA:666
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:220111
Costello Syndrome	Cerebral atrophy, Hydrocephalus, Ventriculomegaly	OMIM:218040
Kabuki Syndrome 1	Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Microcephaly	OMIM:147920
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Branchial anomaly	OMIM:164210
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Hypoplasia of the corpus callosum	ORPHA:363700
Townes-Brocks Syndrome	Cryptorchidism, Agenesis of corpus callosum, Chorioretinal coloboma	ORPHA:857
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Loeys-Dietz Syndrome 2	Umbilical hernia, Hydrocephalus, Dural ectasia	OMIM:610168
Coffin-Siris Syndrome 12	Cryptorchidism, Hippocampal atrophy, Noncommunicating hydrocephalus, Microcephaly	OMIM:619325
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atrophy, Lateral ventricle dilatation...	OMIM:619534
Roberts-Sc Phocomelia Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Stillbirth	OMIM:268300
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Cerebellar hypoplasia, Hypoplasia of ...	OMIM:216340

Histopathology

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

There is no histopathology data for Marcksl1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Marcksl1.

No publications found that use IMPC mice or data for Marcksl1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Marcksl1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Marcksl1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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