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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
abnormal adrenal gland morphology	Katnip^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal epididymis morphology	Katnip^em1(IMPC)Mbp	HET	Early adult	0.00
cataract	Katnip^em1(IMPC)Mbp	HET	Early adult	1.71×10^-05
no spontaneous movement	Katnip^em1(IMPC)Mbp	HOM	E18.5	0.00
decreased locomotor activity	Katnip^em1(IMPC)Mbp	HET	Early adult	7.84×10^-22
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

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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.

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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X-ray

XRay Images Whole Body Dorso Ventral

27 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		Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism...	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	Hydrocephalus, Ventriculomegaly	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	Hydrocephalus, Aqueductal stenosis, 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	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, 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	Hydrocephalus, Ventriculomegaly	OMIM:615938
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
L1 Syndrome	Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum, Dysplastic corpus callosum	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	Hydrocephalus, Ventriculomegaly	OMIM:615937
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia	OMIM:613571
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis	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	Cataract, Hypogonadism, Ataxia, Gait disturbance	ORPHA:2815
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia	OMIM:201710
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle	OMIM:220200
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Gonadal dysgenesis, Retinal dysplasia	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	Hydrocephalus, Ventriculomegaly	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, Agenesis of corpus callosum, Lateral ventricle dilatation	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	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Spastic Paraparesis And Deafness	Cataract, Hypogonadism	OMIM:312910
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Morm Syndrome	Cataract, Retinal atrophy, Micropenis, Retinal dystrophy	ORPHA:75858
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Dysequilibrium Syndrome	Cataract, Ataxia, Gait disturbance	ORPHA:1766
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:303350
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly	OMIM:617967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	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, Agenesis of corpus callosum, Hypoplasia of the brainstem, Hypoplasia of the pons	OMIM:619301
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:190
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613801
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo...	OMIM:609637
Pettigrew Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Aqueductal stenosis	OMIM:304340
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, 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	Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma...	OMIM:619895
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Cataract, Optic disc pallor	OMIM:165300
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism	OMIM:202110
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Hypoplasia of the brainstem, Partial agenesis of the corpus callosum, Agenesis of ...	OMIM:619302
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Penoscrotal hypospadias, Hypospadias, Perineal hypospadias, Increased circula...	OMIM:201810
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, 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, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ...	OMIM:620315
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele, Hypoplasia of the brainstem	ORPHA:352682
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum	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	Cataract, Hypogonadism	OMIM:254000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
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	Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration,...	OMIM:201910
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Micropenis, Retinal dystrophy	OMIM:610156
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft, Hypoplasia of the pons	OMIM:617542
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Gómez-López-Hernández Syndrome	Hydrocephalus, Abnormal brainstem morphology	ORPHA:1532
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ...	ORPHA:90793
Retinopathy Of Prematurity	Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog...	ORPHA:90050
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Unsteady gait, Cataract	OMIM:620312
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Ventriculomegaly	ORPHA:324416
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Gait disturbance, Decreased testicular size, Hypogonadism, Cataract	ORPHA:1875
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Hypogonadism-Cataract Syndrome	Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism	OMIM:240950
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Fried Syndrome	Hydrocephalus	ORPHA:85335
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro...	ORPHA:90791
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Trichomegaly	Cataract	OMIM:190330
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	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
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A...	OMIM:204100
Vacterl With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Spina bifida	ORPHA:3412
Pfeiffer Syndrome Type 3	Aqueductal stenosis	ORPHA:93260
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Neurooculorenal Syndrome	Aqueductal stenosis, Hydrocephalus, Hypoplasia of the pons, Agenesis of corpus callosum, Ventricu...	OMIM:620305
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Alexander Disease	Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:58
Melanosis, Neurocutaneous	Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma	OMIM:249400
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism	OMIM:103900
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	OMIM:613835
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Elongated superior cerebellar peduncle, Hydrocephalus, Hypoplasia of the pon...	OMIM:619512
Exfoliation Syndrome	Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in...	OMIM:177650
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism	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	Hypoplasia of the brainstem, Lateral ventricle dilatation	OMIM:618266
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin...	OMIM:251270
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Loss of ambulation, Cataract, Retinal degeneration, Rod-cone...	OMIM:204200
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Coach Syndrome 2	Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:619111
Cataract 9, Multiple Types	Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Increased serum testosterone level, Hydrocele testis, Rod-cone dystrophy, C...	ORPHA:96181
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Lissencephaly 5	Hydrocephalus, Occipital encephalocele, Hypoplasia of the brainstem	OMIM:615191
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, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma...	ORPHA:1473
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert...	OMIM:202010
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	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	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula...	OMIM:133780
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Ataxia, Cataract, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Exudative Vitreoretinopathy 4	Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme...	OMIM:601813
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the pons, Agenesis of corpus callosum, Ve...	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	Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr...	OMIM:305390
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:618577
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Hypoplasia of the brainstem	OMIM:618174
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,...	OMIM:312600
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Laurence-Moon Syndrome	Hypoplasia of penis, Ataxia, Type II diabetes mellitus, Displacement of the urethral meatus, Cata...	ORPHA:2377
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second...	ORPHA:2410
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Spina bifida	OMIM:162200
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster...	ORPHA:403
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Microphthalmia-Brain Atrophy Syndrome	Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Abnormal pons morphology	ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Hypoplasia of the brainstem, Hypoplasia of the pons	OMIM:615181
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul...	OMIM:225790
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth...	OMIM:212550
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus	OMIM:248000
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
4H Leukodystrophy	Optic atrophy, Delayed puberty, Decreased response to growth hormone stimulation test, Abnormalit...	ORPHA:289494
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Ataxia, Retinal dystrophy	ORPHA:3156
2,4-Dienoyl-Coa Reductase Deficiency	Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul...	OMIM:616034
Leber Congenital Amaurosis 1	Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P...	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, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum	OMIM:207950
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Abnormality of retin...	ORPHA:3085
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Chorioretinal coloboma, Iris coloboma	OMIM:120433
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Acrofacial Dysostosis 1, Nager Type	Hydrocephalus, Aqueductal stenosis	OMIM:154400
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ...	OMIM:219080
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Wagr Syndrome	Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri...	ORPHA:893
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Dandy-Walker malformation, Hypoplasia of the pons, Agenesis of corpus callo...	OMIM:618736
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr...	OMIM:300578
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Retinopathy, Cataract	OMIM:183800
Heterotaxy, Visceral, 1, X-Linked	Hydrocephalus, Aqueductal stenosis, Myelomeningocele	OMIM:306955
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:218350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Norrie Disease	Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of...	OMIM:310600
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle	OMIM:220220
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Ambiguous genitalia, Increased urinary cortisol ...	ORPHA:786
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Meckel Syndrome, Type 4	Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal...	OMIM:611134
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Abnormal brainstem morphology, Dilated fourth ventricle, ...	ORPHA:370959
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Hemangioblastoma	Hydrocephalus	ORPHA:252054
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Abnormal brainstem morphology	ORPHA:163961
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Limb ataxia, Progressive cerebellar ataxia, Macular degeneration, Truncal ataxia, Progressive gai...	ORPHA:284289
Pigmented Nodular Adrenocortical Disease, Primary, 4	Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ...	OMIM:615830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Hypoplasia of the pons, Latera...	OMIM:613154
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilatation, Abnormal brain...	ORPHA:300573
Meckel Syndrome, Type 3	Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation	OMIM:607361
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:109120
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Microphthalmia With Brain And Digit Anomalies	Retinal dystrophy, Microcornea, Abnormality of the hypothalamus-pituitary axis, Sclerocornea, Cho...	ORPHA:139471
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Pallister-Hall-Like Syndrome	Hydrocephalus, Occipital encephalocele, Hypothalamic hamartoma	OMIM:241800
Arachnoiditis	Hydrocephalus	ORPHA:137817
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Microphthalmia, Syndromic 5	Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ect...	OMIM:610125
Gyrate Atrophy Of Choroid And Retina	Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c...	ORPHA:414
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Subcapsular cataract, Ataxia, Cataract, Rod-cone dystrophy, Dysmetria	OMIM:612674
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Cryptorchidism, Optic disc pallor	OMIM:613730
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	OMIM:613443
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly, 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, Cryptorchidism, Aniridia	ORPHA:1069
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hyperaldosteronism	ORPHA:369929
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Communicating hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	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	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	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, Sex reversal, Hypospadias, Adrenal gland agenesis	OMIM:611812
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic...	ORPHA:364055
Intermediate Uveitis	Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V...	ORPHA:279914
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Houge-Janssens Syndrome 2	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:616362
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Optic d...	ORPHA:263479
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
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, Microcornea, Aniridia	OMIM:106230
Charge Syndrome	Aqueductal stenosis, Dandy-Walker malformation, Holoprosencephaly	ORPHA:138
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret...	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	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co...	OMIM:615954
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Joubert Syndrome 3	Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Enlarged fossa interpeduncularis...	OMIM:608629
Thanatophoric Dysplasia Type 2	Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele	ORPHA:93274
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se...	ORPHA:83461
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
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	Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy	OMIM:268100
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Broad-based gait, Attenuation of retinal ...	OMIM:609033
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele	OMIM:614195
Craniosynostosis 6	Dandy-Walker malformation, Agenesis of corpus callosum, Spina bifida occulta, Lateral ventricle d...	OMIM:616602
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Wolfram Syndrome 1	Optic atrophy, Diabetes insipidus, Hypothyroidism, Ataxia, Cataract, Diabetes mellitus, Testicula...	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	Hydrocephalus, Hypoplasia of the brainstem, Agenesis of corpus callosum	OMIM:615249
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:175700
Acrofacial Dysostosis, Cincinnati Type	Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Aqueductal stenosis	OMIM:616462
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar...	OMIM:615986
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:77298
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm	ORPHA:523
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera...	ORPHA:231580
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	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
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Idiopathic Panuveitis	Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju...	ORPHA:280921
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism	ORPHA:1908
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Male hypogonadism, Hypoparathyroidism, Cholelithiasis, Keratoconjunctivitis, Female hypogonadism,...	OMIM:240300
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Hereditary Bullous Dystrophy, Macular Type	External genital hypoplasia, Corneal opacity, Decreased testicular size, Cataract, Cryptorchidism	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	Cholelithiasis, Ataxia, Type II diabetes mellitus, Hypogonadism, Cataract, Pigmentary retinopathy	ORPHA:79095
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Lateral ventricle d...	ORPHA:79243
Walker-Warburg Syndrome	Optic atrophy, Retinal dystrophy, Retinal dysplasia, Retinal detachment, Hypoplasia of penis, Mic...	ORPHA:899
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane...	OMIM:221900
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:238769
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Hydrolethalus	Hydrocephalus, Anencephaly, Agenesis of corpus callosum	ORPHA:2189
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
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	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic endocrine tumor, Retinal detachment, Adrenal pheochromocytom...	ORPHA:892
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Cole-Carpenter Syndrome 1	Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Glutamine Deficiency, Congenital	Decreased CSF glutamine concentration, Subependymal cysts, Lateral ventricle dilatation	OMIM:610015
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Vaginal atresia, Cataract, Adrenal gland agenesis, Absent exter...	OMIM:273395
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly, Colpocephaly	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	Hydrocephalus, Ventriculomegaly	OMIM:603387
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Primary hyperparathyr...	ORPHA:189427
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
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, Agenesis of corpus callosum, Molar tooth sign on MRI, Encephalocele	ORPHA:220497
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Joubert Syndrome 14	Molar tooth sign on MRI, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Hy...	OMIM:614424
Warburg Micro Syndrome 2	Optic atrophy, Small scrotum, Microcornea, Developmental cataract, Cataract, Cryptorchidism, Micr...	OMIM:614225
Temple Syndrome	Hydrocephalus	OMIM:616222
Malan Overgrowth Syndrome	Ventriculomegaly, Hypoplasia of the brainstem, Lateral ventricle dilatation	ORPHA:420179
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Astigmatism, Gait imbalance, Retinal dystrophy, Hyperaut...	OMIM:209900
Cataract 16, Multiple Types	Lenticonus, Developmental cataract, Retinal dystrophy, Posterior polar cataract	OMIM:613763
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Joubert Syndrome 2	Molar tooth sign on MRI, Encephalocele, Elongated superior cerebellar peduncle, Hydrocephalus, Br...	OMIM:608091
Weiss-Kruszka Syndrome	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618619
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysplastic corpus callosum	OMIM:617281
Cowden Syndrome 6	Angioid streaks of the fundus, Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid ade...	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	Ventriculomegaly, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Lateral ven...	OMIM:618291
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:459061
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the pons, Dandy-Walker malformation, Lateral ventricle dilatation	OMIM:618606
Cowden Syndrome 5	Angioid streaks of the fundus, Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hypert...	OMIM:615108
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly, Hypoplasia of the brainstem	ORPHA:2169
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hypoplasia of the brainstem, Lateral ventricle dilatation	OMIM:617751
Proteus-Like Syndrome	Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Cataract, Limbal dermoid, Polycysti...	ORPHA:2969
Multiple Sulfatase Deficiency	Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration	OMIM:272200
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pheochromocytoma, Retinal capillary hemangioma, Papillary cystadenoma o...	OMIM:193300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Joubert Syndrome With Ocular Defect	Hydrocephalus, Agenesis of corpus callosum, Molar tooth sign on MRI, Encephalocele	ORPHA:220493
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation	ORPHA:284417
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Dandy-Walker malformation, Kinked brainstem, Ventriculomegaly, Hypoplasia of the b...	OMIM:617822
Cach Syndrome	Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Abnormal pons morphology	ORPHA:135
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:618476
Triploidy	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:3376
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the br...	OMIM:613150
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Trisomy 1Q	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:261344
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Ventriculomegaly, Choroid plexus cyst	OMIM:617866
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Hypoplasia of the brai...	OMIM:614643
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly, Hypoplasia of the brainstem, Hypoplasia of the pons	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	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Molar tooth sign on MRI, Encephalocele	ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Ataxia, Hypogonadism, Cataract, Pigmentary retinopathy	OMIM:610651
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Dandy-Walker malformation, Lateral ventricle dilatation	ORPHA:3078
Intellectual Developmental Disorder, Autosomal Dominant 56	Pontocerebellar atrophy, Lateral ventricle dilatation	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
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia	ORPHA:90065
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Hypoplasia of the b...	OMIM:253800
Czeizel-Losonci Syndrome	Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida	ORPHA:2437
Peho Syndrome	Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	ORPHA:2836
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormal brainstem morphology	ORPHA:2720
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:1812
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
47,Xyy Syndrome	Hydrocephalus, Abnormal brainstem morphology	ORPHA:8
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly	OMIM:614576
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618651
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele	ORPHA:268810
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Spina bifida occulta, Myelomeningocele	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	Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Occipital meningocele, Ventriculomegaly, Hyp...	OMIM:616546
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:96170
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:617296
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619244
Meckel Syndrome, Type 6	Hydrocephalus, Occipital encephalocele, Anencephaly	OMIM:612284
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele	OMIM:224400
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd...	OMIM:615287
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Pseudotrisomy 13 Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Encephalocele	OMIM:264480
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c...	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	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:7
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	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	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Kinked b...	OMIM:236670
Slc35A2-Cdg	Dandy-Walker malformation, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilata...	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	Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum	OMIM:602398
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Ventriculomegaly, Dilated third ventricle	ORPHA:500055
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Meningo...	ORPHA:397715
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Iniencephaly	Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif...	ORPHA:63259
Pelvis-Shoulder Dysplasia	Hydrocephalus, Spina bifida, Hydranencephaly	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	Hydrocephalus, Ventriculomegaly	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, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation	ORPHA:565624
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating ACTH level, Neuroendocrine neoplasm, Pancreatic endocrine tumor, Pheochromo...	ORPHA:99889
Pentalogy Of Cantrell	Hydrocephalus, Anencephaly, Encephalocele	ORPHA:1335
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
Cushing Disease	Optic nerve compression, Increased urinary cortisol level, Adrenal hyperplasia, Pituitary cortico...	ORPHA:96253
Desmosterolosis	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:35107
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:87
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Bifid uterus, 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
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc...	OMIM:610828
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620113
Doors Syndrome	Optic atrophy, Congenital hypothyroidism, Adrenal hyperplasia, Cataract, Ambiguous genitalia	ORPHA:79500
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Dural Sinus Malformation	Hydrocephalus, Myelopathy	ORPHA:97339
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Agenesis of corpus callosum	OMIM:612651
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:257300
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, Sclerocornea, Ca...	OMIM:309801
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly, Olivopontocerebellar hypoplasia, Agenesis of corpus callosum	ORPHA:457284
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Agenesis of corpus callosum	ORPHA:157
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Hypoplasia of the brainstem, Partial agenesis of the corpus callos...	ORPHA:300570
Schwannomatosis, Vestibular	Retinal hamartoma, Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opac...	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
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre...	OMIM:137920
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	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, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:123790
Thakker-Donnai Syndrome	Agenesis of corpus callosum, Communicating hydrocephalus	ORPHA:1780
Adams-Oliver Syndrome	Hydrocephalus, Encephalocele	ORPHA:974
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:228308
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	Hydrocephalus, Ventriculomegaly	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	Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus	ORPHA:25
Fg Syndrome Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:93932
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hydrocephalus, Lateral ventricular asymmetry	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	Dilated fourth ventricle, Ventriculomegaly, Hypoplasia of the brainstem, Lateral ventricle dilata...	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
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Anterior subcapsular ...	ORPHA:67036
Achondroplasia	Hydrocephalus, Brain stem compression	OMIM:100800
Whipple Disease	Hydrocephalus	ORPHA:3452
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:250989
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Mirage Syndrome	Hydrocephalus	OMIM:617053
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Lateral ventricle dilatation	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	Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation	ORPHA:263487
Craniopharyngioma	Hydrocephalus, Abnormal hypothalamus morphology	ORPHA:54595
Medulloblastoma	Hydrocephalus	ORPHA:616
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Delayed puberty, Abnormal vitreous humor morpho...	ORPHA:649
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Joubert Syndrome With Hepatic Defect	Hydrocephalus, Occipital encephalocele	ORPHA:1454
Autoimmune Polyendocrine Syndrome, Type Ii	Band keratopathy, Keratoconjunctivitis, Hypothyroidism, Primary adrenal insufficiency, Hyperthyro...	OMIM:269200
Cerebrooculonasal Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele	OMIM:605627
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hypothalamic atrophy	ORPHA:2822
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Orofaciodigital Syndrome Ii	Hydrocephalus	OMIM:252100
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Hydrocephalus, Dilated third ventricle, Colpocephaly, Lateral ventricle dilatation	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	Hydrocephalus, Occipital encephalocele	ORPHA:1571
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:301043
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Ventriculomegaly	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, Molar tooth sign on MRI, Lateral ventricle dilatation	OMIM:619479
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:101200
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly	ORPHA:77301
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:2166
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Communicating hydrocephalus	ORPHA:168577
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Congenital Syphilis	Hydrocephalus, CSF pleocytosis	ORPHA:499009
Opitz-Kaveggia Syndrome	Hydrocephalus, Partial agenesis of the corpus callosum	OMIM:305450
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Cousin Syndrome	Hydrocephalus, Hydranencephaly	OMIM:260660
Monosomy 18Q	Hydrocephalus	ORPHA:1600
Otopalatodigital Syndrome Type 2	Hydrocephalus, Encephalocele, Myelomeningocele	ORPHA:90652
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Holoprosencephaly, Anencephaly	OMIM:269860
Hyperparathyroidism, Transient Neonatal	Ventriculomegaly, Communicating hydrocephalus	OMIM:618188
Orofaciodigital Syndrome I	Hydrocephalus, Agenesis of corpus callosum, Hypothalamic hamartoma, Myelomeningocele	OMIM:311200
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
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	Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Dandy-Walker malfor...	OMIM:249000
Histiocytoid Cardiomyopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Jacobsen Syndrome	Hydrocephalus, Holoprosencephaly	OMIM:147791
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum	OMIM:227646
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta	OMIM:300373
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Coccidioidomycosis	Hydrocephalus, CSF lymphocytic pleiocytosis, CSF pleocytosis, Increased CSF protein concentration...	ORPHA:228123
Raine Syndrome	Hydrocephalus	OMIM:259775
Holoprosencephaly	Encephalocele, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Spinal dysraphism	ORPHA:2162
Marshall-Smith Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:602535
Khan-Khan-Katsanis Syndrome	Ventriculomegaly, Colpocephaly	OMIM:618460
Aymé-Gripp Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1272
Mucopolysaccharidosis, Type Vi	Hydrocephalus, Cervical myelopathy	OMIM:253200
Trisomy 8P	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:264450
7Q11.23 Microduplication Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:96121
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy, Brain stem compression	ORPHA:637
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Holoprosencephaly 9	Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Occipital meningocele, Ho...	OMIM:610829
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Meckel Syndrome	Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Lobar holoprosencephaly	ORPHA:564
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Floating-Harbor Syndrome	Abnormal anterior chamber morphology, Hypospadias, Broad-based gait, Precocious puberty, Varicoce...	ORPHA:2044
Marden-Walker Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2461
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Communicating hydrocephalus	ORPHA:2462
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, Agenesis of corpus callosum, Colpocephaly, Holoprosencephaly	OMIM:618820
Mucopolysaccharidosis Type 3	Hydrocephalus, Ventriculomegaly	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	Dandy-Walker malformation, Choroid plexus cyst, Dilated third ventricle, Spina bifida, Lateral ve...	OMIM:304050
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Communicating hydrocephalus	OMIM:617011
Limb Body Wall Complex	Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida	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	Hydrocephalus, Ventriculomegaly	ORPHA:2322
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus	ORPHA:163979
Semilobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Agenesis of corpus callosum, Abnormal brainstem morphology	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Agenesis of corpus callosum, Abnormal brainstem morphology	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Neural tube defect, Agenesis of corpus callosum, Abnormal brainstem morphology	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Agenesis of corpus callosum, Abnormal brainstem morphology	ORPHA:93924
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Spina bifida	ORPHA:363958
Smith-Lemli-Opitz Syndrome	Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Colpocephaly, Partial agenesis of th...	OMIM:270400
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Varicocele, Epididymal cyst, Cryptorchidism	OMIM:136140
Hajdu-Cheney Syndrome	Hydrocephalus	ORPHA:955
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Lateral ventricle dilatation, Partial a...	OMIM:210710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly, 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
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hydrocephalus, Ventriculomegaly, Decreased CSF 5-methyltetrahydrofolate concentration	OMIM:619475
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	Hydrocephalus, Myelomeningocele	OMIM:258040
Campomelic Dysplasia	Hydrocephalus, Spinal dysraphism, Spina bifida	OMIM:114290
Osteogenesis Imperfecta	Hydrocephalus, Ventriculomegaly, Noncommunicating hydrocephalus, Brain stem compression	ORPHA:666
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus	ORPHA:309282
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Ventriculomegaly	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	Ventriculomegaly, Normal pressure hydrocephalus	OMIM:216400
Costello Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:218040
Wolf-Hirschhorn Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:194190
Fraser Syndrome 1	Hydrocephalus, Encephalocele, Myelomeningocele	OMIM:219000
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Baller-Gerold Syndrome	Hydrocephalus, Agenesis of corpus callosum, Spina bifida occulta	OMIM:218600
Cockayne Syndrome B	Normal pressure hydrocephalus	OMIM:133540
Yunis-Varon Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3472
Focal Dermal Hypoplasia	Hydrocephalus, Agenesis of corpus callosum, Spina bifida occulta, Myelomeningocele	OMIM:305600
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	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	Agenesis of corpus callosum, Mild fetal ventriculomegaly, Communicating hydrocephalus	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	Hydrocephalus, Ventriculomegaly, Spina bifida occulta	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	Hydrocephalus, Ventriculomegaly, 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
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly	OMIM:107480
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
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	Hydrocephalus, Occipital encephalocele, Agenesis of corpus callosum	OMIM:164210
Joubert Syndrome 26	Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism...	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

MicroCT E18.5

X-ray

X-ray

Human diseases caused by Katnip mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data