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Gene: Katnip MGI:2442760

Gene Summary

Name:

katanin interacting protein

Synonyms:

D430042O09Rik

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged epididymis	Katnip^em1(IMPC)Mbp	HET	Early adult	0.00
no spontaneous movement	Katnip^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal retina morphology	Katnip^em1(IMPC)Mbp	HET	Early adult	3.28×10^-05
no spontaneous movement	Katnip^em1(IMPC)Mbp	HOM	E18.5	0.00
decreased locomotor activity	Katnip^em1(IMPC)Mbp	HET	Early adult	7.94×10^-22
abnormal epididymis morphology	Katnip^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal adrenal gland morphology	Katnip^em1(IMPC)Mbp	HET	Early adult	0.00
cataract	Katnip^em1(IMPC)Mbp	HET	Early adult	1.71×10^-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Katnip 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 Katnip (2 diseases)
Human diseases predicted to be associated with Katnip (748 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Joubert Syndrome		Hydrocephalus, Encephalocele	ORPHA:475
Joubert Syndrome 26		Micropenis, Panhypopituitarism, Central hypothyroidism, Decreased response to growth hormone stim...	OMIM:616784

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

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism, Chorioretinal coloboma	OMIM:274205
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2182
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:604213
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia	OMIM:613571
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Ataxia	ORPHA:1397
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Spastic Paraparesis-Deafness Syndrome	Hypogonadism, Cataract, Gait disturbance, Ataxia	ORPHA:2815
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome, Hypospadias	OMIM:201710
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Cataract, Limb ataxia, Gait ataxia	OMIM:617133
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia, Gonadal dysgenesis	OMIM:615041
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:600348
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V...	OMIM:143200
Spastic Paraparesis And Deafness	Hypogonadism, Cataract	OMIM:312910
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir...	ORPHA:179
Hydrolethalus Syndrome 2	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly	OMIM:614120
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Morm Syndrome	Micropenis, Cataract, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Masa Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:303350
Dysequilibrium Syndrome	Cataract, Gait disturbance, Ataxia	ORPHA:1766
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis	ORPHA:3035
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Hypoplasia of the brainstem, Hypoplasia of the pons, Agenesis of corpus callosum	OMIM:619301
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Pettigrew Syndrome	Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:304340
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum	ORPHA:250972
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Partial agenesis ...	OMIM:619895
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy	OMIM:165300
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Male pseudohermaphroditism, Ambiguous genitalia, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Hydrocephalus, Agenesis of ...	OMIM:619302
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i...	OMIM:201810
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone d...	ORPHA:363741
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis	ORPHA:1788
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe...	OMIM:620315
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor...	OMIM:614292
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Autoimmune Polyendocrinopathy Type 1	Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ...	ORPHA:3453
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem	ORPHA:352682
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:304100
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Cryptorchidism, Chorioretinal coloboma	ORPHA:2489
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Hypogonadism, Cataract	OMIM:254000
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Galloway-Mowat Syndrome	Aqueductal stenosis	ORPHA:2065
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypospadias, Adrenal...	OMIM:201910
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract, Retinal dystrophy	OMIM:610156
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed...	OMIM:600059
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Midline brainstem cleft, Hypoplasia of the pons, Agenesis of corpus callosum	OMIM:617542
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Gómez-López-Hernández Syndrome	Abnormal brainstem morphology, Hydrocephalus	ORPHA:1532
Retinopathy Of Prematurity	Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme...	ORPHA:90050
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De...	ORPHA:90793
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Unsteady gait, Optic atrophy	OMIM:620312
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Gait disturbance	ORPHA:1875
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Hypogonadism-Cataract Syndrome	Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level	OMIM:240950
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Fried Syndrome	Hydrocephalus	ORPHA:85335
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Trichomegaly	Cataract	OMIM:190330
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta...	OMIM:616468
Microcephaly-Micromelia Syndrome	Aqueductal stenosis	OMIM:251230
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Pfeiffer Syndrome Type 3	Aqueductal stenosis	ORPHA:93260
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:616108
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Neurooculorenal Syndrome	Ventriculomegaly, Hypoplasia of the pons, Agenesis of corpus callosum, Hydrocephalus, Aqueductal ...	OMIM:620305
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	ORPHA:58
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hypoplasia of the pons, Agenesis of corpus callosum, Elongated superior cerebellar peduncle, Hydr...	OMIM:619512
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl...	OMIM:177650
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level	OMIM:103900
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias	ORPHA:1381
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Hypoplasia of the brainstem	OMIM:618266
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy...	OMIM:251270
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Retinal degeneration, Loss of ambulation, Rod-cone...	OMIM:204200
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Coach Syndrome 2	Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:619111
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Rod-con...	ORPHA:96181
Alexander Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:203450
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem	OMIM:615191
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Ataxia, Hypergonadotropic hypogonadism	OMIM:614307
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Exudative Vitreoretinopathy 4	Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d...	OMIM:601813
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosu...	OMIM:613153
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:618577
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus	OMIM:610333
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Hypoplasia of the brainstem	OMIM:618174
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci...	ORPHA:90790
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Laurence-Moon Syndrome	Cataract, Type II diabetes mellitus, Cryptorchidism, Displacement of the urethral meatus, Ataxia,...	ORPHA:2377
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy	OMIM:614284
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Cataract, Absence of secondary sex characteristics, Delayed ...	ORPHA:2410
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Familial Hyperaldosteronism Type Ii	Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid...	ORPHA:404
Familial Hyperaldosteronism Type I	Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre...	ORPHA:403
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Microphthalmia-Brain Atrophy Syndrome	Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem	ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Hypoplasia of the pons, Hypoplasia of the brainstem	OMIM:615181
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Hydr...	OMIM:225790
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal...	OMIM:212550
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus	OMIM:248000
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
4H Leukodystrophy	Cataract, Optic atrophy, Decreased response to growth hormone stimulation test, Abnormality of th...	ORPHA:289494
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc...	OMIM:616034
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal dystrophy, Ataxia	ORPHA:3156
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d...	OMIM:204000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Hypoplasia of the brainstem	OMIM:613155
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida	OMIM:207950
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism,...	ORPHA:3085
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus	OMIM:154400
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Cryptorchidism, Displacement of the urethral meatus, Am...	ORPHA:893
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida o...	OMIM:618736
Congenital Toxoplasmosis	Ventriculomegaly, Hydrocephalus	ORPHA:858
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r...	OMIM:300578
Heterotaxy, Visceral, 1, X-Linked	Myelomeningocele, Aqueductal stenosis, Hydrocephalus	OMIM:306955
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:218350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:602501
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Norrie Disease	Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom...	OMIM:310600
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Nasu-Hakola Disease	Ventriculomegaly, Hydrocephalus	ORPHA:2770
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningocele, Anencephaly, Dandy-Walker mal...	OMIM:611134
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the brainstem, A...	ORPHA:370959
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Abnormal brainstem morphology, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Macular degeneration, Tortuosity of conjunctival vessels, Limb ataxia, Dysmetria, Progr...	ORPHA:284289
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp...	OMIM:615830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ...	OMIM:613154
Polymicrogyria Due To Tubb2B Mutation	Abnormal brainstem morphology, Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of ...	ORPHA:300573
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Hydrocephalus	ORPHA:272
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Sclerocornea, Iris coloboma, Abnor...	ORPHA:139471
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Pallister-Hall-Like Syndrome	Hydrocephalus, Hypothalamic hamartoma, Occipital encephalocele	OMIM:241800
Arachnoiditis	Hydrocephalus	ORPHA:137817
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Micropenis, Retinal dystrophy...	OMIM:610125
Gyrate Atrophy Of Choroid And Retina	Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal...	ORPHA:414
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Optic atrophy, Dysmetria, Subcapsular cataract, Rod-cone dystrophy, Ataxia	OMIM:612674
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Optic disc pallor, Cryptorchidism	OMIM:613730
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:613443
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:620156
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Ataxia	ORPHA:3233
Aniridia-Absent Patella Syndrome	Cataract, Aniridia, Cryptorchidism	ORPHA:1069
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hyperaldosteronism, Abnormal circulating renin, Athetosis, Adrenal hyperplasia	ORPHA:369929
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce...	OMIM:615219
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, Cr...	ORPHA:95699
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ovotestis, Hypospadias, Adrenal gland agenesis, Sex reversal	OMIM:611812
Familial Hyperaldosteronism Type Iii	Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina...	ORPHA:279914
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t...	ORPHA:364055
Houge-Janssens Syndrome 2	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:616362
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat...	ORPHA:263479
Pontocerebellar Hypoplasia, Type 1A	Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle dilatation	OMIM:607596
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Charge Syndrome	Aqueductal stenosis, Holoprosencephaly, Dandy-Walker malformation	ORPHA:138
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Cataract 47	Cataract, Microcornea	OMIM:612018
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:245200
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ...	OMIM:615954
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Joubert Syndrome 3	Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Lateral ventricle dilat...	OMIM:608629
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Thanatophoric Dysplasia Type 2	Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele	ORPHA:93274
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect...	ORPHA:83461
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Temple Syndrome	Hydrocephalus	ORPHA:254516
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Posterior Column Ataxia With Retinitis Pigmentosa	Cataract, Broad-based gait, Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood v...	OMIM:609033
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus	OMIM:614195
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Craniosynostosis 6	Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus...	OMIM:616602
Houge-Janssens Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:616355
Wolfram Syndrome 1	Cataract, Optic atrophy, Pigmentary retinopathy, Hypothyroidism, Ataxia, Testicular atrophy, Diab...	OMIM:222300
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:175700
Acrofacial Dysostosis, Cincinnati Type	Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:616462
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Bardet-Biedl Syndrome 9	Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p...	OMIM:615986
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:77298
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu...	ORPHA:91495
Hereditary Leiomyomatosis And Renal Cell Cancer	Vaginal neoplasm, Cataract, Uterine leiomyosarcoma, Uterine leiomyoma	ORPHA:523
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hydrocephalus	OMIM:219730
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia...	OMIM:106210
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m...	ORPHA:280921
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly	ORPHA:1908
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Pigmentary retinopathy, Ad...	OMIM:240300
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:609757
Hereditary Bullous Dystrophy, Macular Type	Cataract, Decreased testicular size, External genital hypoplasia, Cryptorchidism, Corneal opacity	ORPHA:1867
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ventricle dilata...	OMIM:600721
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Cholelithiasis, Pigmentary retinopathy, Hypogonadism, Type II diabetes mellitus, Ataxia	ORPHA:79095
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Abnormal CSF pyruvate fami...	ORPHA:79243
Walker-Warburg Syndrome	Cataract, Microcornea, Retinal dysplasia, Optic atrophy, Abnormal optic nerve morphology, Cryptor...	ORPHA:899
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c...	OMIM:221900
Thanatophoric Dysplasia	Ventriculomegaly, Hydrocephalus	ORPHA:2655
1Q44 Microdeletion Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:238769
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Hydrocephalus	OMIM:615630
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hydrocephalus, Aqueductal stenosis, Lateral ventricle dilatation	OMIM:619534
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Macular edema, Elevated circulating catecholamine level, Pancreatic...	ORPHA:892
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation	OMIM:610015
Tetraamelia Syndrome 1	Cataract, Absent external genitalia, Adrenal gland agenesis, Vaginal atresia, Hypoplasia of the f...	OMIM:273395
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Colpocephaly, Hydrocephalus	OMIM:619833
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Hypoplasia of the pons	OMIM:620157
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:603387
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Joubert Syndrome With Renal Defect	Hydrocephalus, Encephalocele, Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:220497
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Joubert Syndrome 14	Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningocele, ...	OMIM:614424
Warburg Micro Syndrome 2	Small scrotum, Cataract, Microcornea, Optic atrophy, Cryptorchidism, Hypoplastic labia majora, De...	OMIM:614225
Temple Syndrome	Hydrocephalus	OMIM:616222
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the brainstem	ORPHA:420179
Bardet-Biedl Syndrome 1	Ataxia, Cataract, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Gait imbalan...	OMIM:209900
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract, Retinal dystrophy	OMIM:613763
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Joubert Syndrome 2	Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Brainstem dysplasia, Encephalocele...	OMIM:608091
Weiss-Kruszka Syndrome	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618619
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Cowden Syndrome 6	Varicocele, Thyroid adenoma, Cataract, Goiter, Angioid streaks of the fundus, Ovarian cyst, Hypot...	OMIM:615109
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ven...	OMIM:618291
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:459061
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the pons, Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem	ORPHA:2169
Cowden Syndrome 5	Cataract, Thyroid adenoma, Goiter, Angioid streaks of the fundus, Ovarian cyst, Hypothyroidism, H...	OMIM:615108
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:60040
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus, Agenesis of corpus callosum	OMIM:619320
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Proteus-Like Syndrome	Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Po...	ORPHA:2969
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation, Hypoplasia of the brainstem	OMIM:617751
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus	OMIM:272200
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Pheochromocytoma, Paraganglioma, Epididymal cyst, Pancreatic cysts,...	OMIM:193300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Joubert Syndrome With Ocular Defect	Hydrocephalus, Encephalocele, Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:220493
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation	ORPHA:284417
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Hypoplasia of the brainstem, Hydrocephalus, Kinked brainstem, Dandy-Walker malf...	OMIM:617822
Cach Syndrome	Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem	ORPHA:135
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:3376
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:618476
Diabetic Embryopathy	Spinal dysraphism, Hydrocephalus	ORPHA:1926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Hypoplasia of the brainstem, Encephalocele, Agenesis of corpus callosum, Hydroc...	OMIM:613150
Trisomy 1Q	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:261344
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:612863
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Choroid plexus cyst, Hydrocephalus	OMIM:617866
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Partial agenesis of ...	OMIM:614643
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem	OMIM:614969
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:1647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus	OMIM:616538
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Encephalocele, Molar tooth sign on MRI	ORPHA:2318
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Xeroderma Pigmentosum, Complementation Group B	Cataract, Pigmentary retinopathy, Optic atrophy, Hypogonadism, Ataxia	OMIM:610651
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation, Pontocerebellar atrophy	OMIM:617854
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:612582
Rhombencephalosynapsis	Ventriculomegaly, Hydrocephalus	ORPHA:59315
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:613001
Acquired Aneurysmal Subarachnoid Hemorrhage	Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia	ORPHA:90065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hypoplasia of the brainstem, Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Holoprose...	OMIM:253800
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Peho Syndrome	Ventriculomegaly, Hydrocephalus, Atrophy/Degeneration affecting the brainstem	ORPHA:2836
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal brainstem morphology, Hydrocephalus	ORPHA:2720
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:1812
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
47,Xyy Syndrome	Abnormal brainstem morphology, Hydrocephalus	ORPHA:8
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Hydrocephalus	OMIM:614576
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Halperin-Birk Syndrome	Ventriculomegaly, Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum	OMIM:618651
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Thanatophoric Dysplasia Type 1	Ventriculomegaly, Hydrocephalus	ORPHA:1860
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Hypoplasia of the brainstem, Occipital meningocele, Hydrocephalus, Molar tooth ...	OMIM:616546
Tenorio Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:616260
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Emanuel Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:96170
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Emanuel Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:609029
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:619244
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele	OMIM:224400
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hydrocephalus	OMIM:300514
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brainstem, Agenesis of corpus callos...	OMIM:615287
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Pseudotrisomy 13 Syndrome	Hydrocephalus, Holoprosencephaly, Encephalocele, Agenesis of corpus callosum	OMIM:264480
Sympathetic Ophthalmia	Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor...	ORPHA:79098
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
3C Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:7
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus	OMIM:313850
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Joubert Syndrome	Hydrocephalus, Encephalocele	ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brainstem, Agenesis of corpus callos...	OMIM:236670
Slc35A2-Cdg	Abnormal midbrain morphology, Dandy-Walker malformation, Lateral ventricle dilatation, Atrophy/De...	ORPHA:356961
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum	OMIM:609053
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
Desmosterolosis	Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:602398
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Hydrocephalus	ORPHA:500055
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,...	ORPHA:397715
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal...	ORPHA:63259
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Rabin-Pappas Syndrome	Hydrocephalus, Hypoplasia of the pons	OMIM:620155
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Achondroplasia	Hydrocephalus	ORPHA:15
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Trisomy 17P	Hydrocephalus	ORPHA:261290
Primary Ciliary Dyskinesia	Ventriculomegaly, Hydrocephalus	ORPHA:244
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Combined Oxidative Phosphorylation Defect Type 39	Increased CSF lactate, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem	ORPHA:565624
Cushing Syndrome Due To Ectopic Acth Secretion	Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Increas...	ORPHA:99889
Pentalogy Of Cantrell	Hydrocephalus, Anencephaly, Encephalocele	ORPHA:1335
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT...	ORPHA:96253
Desmosterolosis	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:35107
Apert Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:87
Hydrolethalus Syndrome 1	Bifid uterus, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology	OMIM:236680
Lowry-Maclean Syndrome	Hydrocephalus	ORPHA:2409
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Encephalocele	ORPHA:1865
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypoplasia of the brainstem, Agenesis of c...	OMIM:610828
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:620113
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Doors Syndrome	Cataract, Optic atrophy, Congenital hypothyroidism, Adrenal hyperplasia, Ambiguous genitalia	ORPHA:79500
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:612651
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:257300
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Linear Skin Defects With Multiple Congenital Anomalies 1	Iris coloboma, Clitoral hypertrophy, Cataract, Peters anomaly, Pigmentary retinopathy, Ovotestis,...	OMIM:309801
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Agenesis of corpus callosum	ORPHA:157
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly, Olivopontocerebellar hypoplasia, Agenesis of corpus callosum	ORPHA:457284
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Lateral ventricle dilatat...	ORPHA:300570
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ...	OMIM:101000
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Hydrocephalus	ORPHA:395
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:617260
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe...	OMIM:137920
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:123790
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:228308
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Adams-Oliver Syndrome	Hydrocephalus, Encephalocele	ORPHA:974
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:613603
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Stromme Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:243605
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules	ORPHA:25
Fg Syndrome Type 1	Ventriculomegaly, Hydrocephalus	ORPHA:93932
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Mucopolysaccharidosis, Type Ii	Hydrocephalus	OMIM:309900
Spondyloenchondrodysplasia	Ventriculomegaly, Abnormal lateral ventricle morphology	ORPHA:1855
Wars2-Related Combined Oxidative Phosphorylation Defect	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation, Hypoplasia of the brain...	ORPHA:572798
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus	OMIM:616482
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Colpocephaly	ORPHA:261250
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation	OMIM:619847
Arachnoid Cyst	Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele	ORPHA:2356
Dextrocardia	Hydrocephalus	ORPHA:1666
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Achondroplasia	Hydrocephalus, Brain stem compression	OMIM:100800
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Optic atrophy, Cerulean cataract, Anterior cortical cat...	ORPHA:67036
Whipple Disease	Hydrocephalus	ORPHA:3452
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:250989
Mirage Syndrome	Hydrocephalus	OMIM:617053
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Lateral Meningocele Syndrome	Meningocele, Hydrocephalus	OMIM:130720
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:314585
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation	ORPHA:293725
Cog5-Cdg	Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem	ORPHA:263487
Craniopharyngioma	Abnormal hypothalamus morphology, Hydrocephalus	ORPHA:54595
Medulloblastoma	Hydrocephalus	ORPHA:616
Norrie Disease	Cataract, Optic atrophy, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil ...	ORPHA:649
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Cataract, Band keratopathy, Primary adrenal insufficiency, Type II diabetes mellitus, Ke...	OMIM:269200
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Cerebrooculonasal Syndrome	Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation	OMIM:605627
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Hypothalamic atrophy, Lateral ventricle dilatation	ORPHA:2822
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Orofaciodigital Syndrome Ii	Hydrocephalus	OMIM:252100
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Hydrocephalus	OMIM:620371
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:544488
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Colpocephaly, Alobar holoprosencephaly, Agenesis of corpus callosum	OMIM:301043
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Hydrocephalus	OMIM:259720
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Mucopolysaccharidosis Type 1	Hydrocephalus	ORPHA:579
Hurler Syndrome	Hydrocephalus	OMIM:607014
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Ventriculomegaly, Lateral ventricle dilatation, Molar tooth sign on MRI	OMIM:619479
Apert Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:101200
Monosomy 9Q22.3	Ventriculomegaly, Hydrocephalus	ORPHA:77301
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:2166
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Congenital Syphilis	Hydrocephalus, CSF pleocytosis	ORPHA:499009
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Monosomy 18Q	Hydrocephalus	ORPHA:1600
Otopalatodigital Syndrome Type 2	Myelomeningocele, Hydrocephalus, Encephalocele	ORPHA:90652
Short-Rib Thoracic Dysplasia 12	Holoprosencephaly, Anencephaly, Hydrocephalus	OMIM:269860
Hyperparathyroidism, Transient Neonatal	Ventriculomegaly, Communicating hydrocephalus	OMIM:618188
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Orofaciodigital Syndrome I	Myelomeningocele, Hypothalamic hamartoma, Hydrocephalus, Agenesis of corpus callosum	OMIM:311200
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
H Syndrome	Hydrocephalus	ORPHA:168569
Cardiofaciocutaneous Syndrome 1	Hydrocephalus	OMIM:115150
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Hurler Syndrome	Hydrocephalus	ORPHA:93473
Cardiofaciocutaneous Syndrome	Hydrocephalus	ORPHA:1340
Meckel Syndrome, Type 1	Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Agenesis of corpus callosum,...	OMIM:249000
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum	OMIM:227646
Histiocytoid Cardiomyopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Jacobsen Syndrome	Holoprosencephaly, Hydrocephalus	OMIM:147791
Osteopathia Striata With Cranial Sclerosis	Spina bifida occulta, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:300373
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Coccidioidomycosis	Increased CSF protein concentration, Hypoglycorrhachia, CSF lymphocytic pleiocytosis, Hydrocephal...	ORPHA:228123
Raine Syndrome	Hydrocephalus	OMIM:259775
Holoprosencephaly	Spinal dysraphism, Encephalocele, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	ORPHA:2162
Marshall-Smith Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:602535
Khan-Khan-Katsanis Syndrome	Ventriculomegaly, Colpocephaly	OMIM:618460
Aymé-Gripp Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:1272
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Trisomy 8P	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:264450
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy, Brain stem compression	ORPHA:637
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:96121
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Holoprosencephaly 9	Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosencepha...	OMIM:610829
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Dubowitz Syndrome	Spina bifida occulta, Hydrocephalus	ORPHA:235
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Communicating hydrocephalus	ORPHA:2462
Marden-Walker Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2461
Floating-Harbor Syndrome	Precocious puberty, Varicocele, Broad-based gait, Cryptorchidism, Abnormal anterior chamber morph...	ORPHA:2044
Cryptococcosis	Hydrocephalus	ORPHA:1546
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus	ORPHA:505248
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Agenesis of corpus callosum	OMIM:618820
Mucopolysaccharidosis Type 3	Ventriculomegaly, Hydrocephalus	ORPHA:581
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Peroxisome Biogenesis Disorder 5A (Zellweger)	Colpocephaly, Agenesis of corpus callosum	OMIM:614866
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, Spina bifida, Partial...	OMIM:304050
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Communicating hydrocephalus	OMIM:617011
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Anencephaly	ORPHA:2369
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2658
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly	OMIM:620083
Kabuki Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:2322
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus	ORPHA:163979
Semilobar Holoprosencephaly	Abnormal brainstem morphology, Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:220386
Alobar Holoprosencephaly	Abnormal brainstem morphology, Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal brainstem morphology, Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:93926
Lobar Holoprosencephaly	Abnormal brainstem morphology, Hydrocephalus, Neural tube defect, Agenesis of corpus callosum	ORPHA:93924
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Ventriculomegaly, Spina bifida, Agenesis of corpus callosum	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly, Spina bifida, Agenesis of corpus callosum	ORPHA:363958
Smith-Lemli-Opitz Syndrome	Colpocephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosencephaly, Dandy-Wa...	OMIM:270400
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Floating-Harbor Syndrome	Varicocele, Glandular hypospadias, Cryptorchidism, Epididymal cyst, Hypospadias	OMIM:136140
Hajdu-Cheney Syndrome	Hydrocephalus	ORPHA:955
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Partial a...	OMIM:210710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem	OMIM:253280
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Meningioma	Hydrocephalus, Brain stem compression	ORPHA:2495
Fanconi Anemia	Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:84
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus	OMIM:619321
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2556
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hydrocephalus, Ventriculomegaly, Decreased CSF 5-methyltetrahydrofolate concentration	OMIM:619475
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Ventriculomegaly, Communicating hydrocephalus	ORPHA:457359
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Campomelic Dysplasia	Hydrocephalus, Spinal dysraphism, Spina bifida	OMIM:114290
Osteogenesis Imperfecta	Hydrocephalus, Ventriculomegaly, Brain stem compression, Noncommunicating hydrocephalus	ORPHA:666
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus	ORPHA:309282
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:2072
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
6Q Terminal Deletion Syndrome	Colpocephaly	ORPHA:75857
22Q11.2 Deletion Syndrome	Hydrocephalus, Meningocele, Spina bifida	ORPHA:567
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Cockayne Syndrome A	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Costello Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:218040
Wolf-Hirschhorn Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:194190
Fraser Syndrome 1	Myelomeningocele, Hydrocephalus, Encephalocele	OMIM:219000
Gaucher Disease	Ventriculomegaly, Hydrocephalus	ORPHA:355
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Baller-Gerold Syndrome	Spina bifida occulta, Hydrocephalus, Agenesis of corpus callosum	OMIM:218600
Cockayne Syndrome B	Normal pressure hydrocephalus	OMIM:133540
Yunis-Varon Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3472
Focal Dermal Hypoplasia	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Agenesis of corpus callosum	OMIM:305600
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:607872
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:264090
Fontaine Progeroid Syndrome	Hydrocephalus	OMIM:612289
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mild fetal ventriculomegaly, Communicating hydrocephalus, Agenesis of corpus callosum	OMIM:619841
Tuberous Sclerosis Complex	Subependymal nodules, Noncommunicating hydrocephalus	ORPHA:805
Tetrasomy 9P	Hydrocephalus, Dandy-Walker malformation	ORPHA:3310
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Peters Plus Syndrome	Spina bifida occulta, Ventriculomegaly, Hydrocephalus	ORPHA:709
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Peters-Plus Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:261540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3455
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology	ORPHA:353277
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Spina bifida	OMIM:304120
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Townes-Brocks Syndrome 1	Holoprosencephaly, Hydrocephalus	OMIM:107480
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Agenesis of corpus callosum	OMIM:312870
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus	OMIM:619325
Genitopatellar Syndrome	Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Frontal encephalocele	OMIM:268300
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210
Joubert Syndrome 26	Micropenis, Panhypopituitarism, Central hypothyroidism, Decreased response to growth hormone stim...	OMIM:616784

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 Katnip

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Katnip.

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

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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
Katnip^{tm370859(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Katnip^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Katnip^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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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Gene: Katnip MGI:2442760

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E18.5

X-ray

Human diseases caused by Katnip mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data