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Gene: Katnip MGI:2442760

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Gene Summary

Name:
katanin interacting protein
Synonyms:
D430042O09Rik

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Katnipem1(IMPC)Mbp HET Early adult 7.94×10-22
no spontaneous movement Katnipem1(IMPC)Mbp HOM E18.5 0.00
abnormal epididymis morphology Katnipem1(IMPC)Mbp HET Early adult 0.00
enlarged epididymis Katnipem1(IMPC)Mbp HET Early adult 0.00
abnormal adrenal gland morphology Katnipem1(IMPC)Mbp HET Early adult 0.00
cataract Katnipem1(IMPC)Mbp HET Early adult 1.71×10-05
no spontaneous movement Katnipem1(IMPC)Mbp HET E18.5 0.00
abnormal retina morphology Katnipem1(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.

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
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.

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 Similarity of
phenotypes		 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