Gene Summary

Name:
katanin interacting protein
Synonyms:
D430042O09Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Katnipem1(IMPC)Mbp HET Early adult 3.46×10-05
decreased locomotor activity Katnipem1(IMPC)Mbp HET Early adult 7.40×10-22
no spontaneous movement Katnipem1(IMPC)Mbp HET E18.5 0.00
abnormal epididymis morphology Katnipem1(IMPC)Mbp HET Early adult 0.00
abnormal adrenal gland morphology Katnipem1(IMPC)Mbp HET Early adult 0.00
enlarged epididymis Katnipem1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Katnipem1(IMPC)Mbp HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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
Encephalocele, Hydrocephalus ORPHA:475
Joubert Syndrome 26
Micropenis, Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hy... 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
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
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly 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
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
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
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201710
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Cataract, Ataxia, Gait disturbance ORPHA:2815
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
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
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Cataract 42
Cataract, Developmental cataract OMIM:115900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis ORPHA:3035
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Hypoplasia of the brainstem, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Partial agenesis of the corpus callosum, Agenesis of corpus callosum... OMIM:619302
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis ... OMIM:619895
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... ORPHA:3453
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis ORPHA:1788
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Hypogonadism, Gait disturbance, Abnormality of the ovary ORPHA:1875
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem ORPHA:352682
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201910
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Trichomegaly
Cataract OMIM:190330
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Galloway-Mowat Syndrome
Aqueductal stenosis ORPHA:2065
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft OMIM:617542
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal brainstem morphology ORPHA:1532
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Fried Syndrome
Hydrocephalus ORPHA:85335
Microcephaly-Micromelia Syndrome
Aqueductal stenosis OMIM:251230
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Pfeiffer Syndrome Type 3
Aqueductal stenosis ORPHA:93260
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum ORPHA:58
Neurooculorenal Syndrome
Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos... OMIM:620305
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos... OMIM:619512
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Lateral ventricle dilatation OMIM:618266
Central Precocious Puberty In Male
Hydrocephalus, Hypothalamic hamartoma ORPHA:649929
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism ORPHA:1381
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Galactosemia Iv
Cataract OMIM:618881
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Lissencephaly 5
Occipital encephalocele, Hypoplasia of the brainstem, Hydrocephalus OMIM:615191
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... ORPHA:2410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Agenesis of... OMIM:613153
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hypoplasia of the brainstem, Hydrocephalus OMIM:618174
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Ataxia, Cryptorchidism, Type II diabetes mellitus, Displacement of... ORPHA:2377
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem ORPHA:77299
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus OMIM:615181
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Agenesis of corpus... OMIM:225790
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia ORPHA:363741
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus OMIM:154400
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... OMIM:618736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the brainstem, Hydrocephalus OMIM:613155
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Nephronophthisis 18
Hydrocephalus OMIM:615862
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Myelomeningocele, Hydrocephalus OMIM:306955
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Dandy-Walker mal... OMIM:611134
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... OMIM:615830
Cataract 47
Microcornea, Cataract OMIM:612018
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Hemangioblastoma
Hydrocephalus ORPHA:252054
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Dilated th... OMIM:613154
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Olivopontocerebellar hypoplasia, Hypoplasia of... ORPHA:370959
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilatation, Abnormal brain... ORPHA:300573
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... ORPHA:251274
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hyperaldosteronism, Dexamethasone-sup... ORPHA:369929
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Hypothalamic hamartoma OMIM:241800
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Arachnoiditis
Hydrocephalus ORPHA:137817
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis OMIM:611812
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Lateral ventricle dilatation, Hypoplasia of the ventral pons OMIM:607596
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Charge Syndrome
Aqueductal stenosis, Holoprosencephaly, Dandy-Walker malformation ORPHA:138
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm ORPHA:523
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Joubert Syndrome 3
Molar tooth sign on MRI, Enlarged fossa interpeduncularis, Elongated superior cerebellar peduncle... OMIM:608629
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Temple Syndrome
Hydrocephalus ORPHA:254516
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum OMIM:619517
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Agenesis of corpus callosum, Hydrocephalus OMIM:615249
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Va... OMIM:273395
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Proximal Myotonic Myopathy
Cataract ORPHA:606
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Increased CSF lactate, Lateral ventricle dilatation, Abn... ORPHA:79243
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation OMIM:619534
Hydrolethalus
Agenesis of corpus callosum, Hydrocephalus, Anencephaly ORPHA:2189
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation OMIM:610015
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the pons, Hydrocephalus OMIM:620157
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Muenke Syndrome
Hydrocephalus ORPHA:53271
Crouzon Syndrome
Hydrocephalus ORPHA:207
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Encephalocele, Agenesis of corpus callosum, Hydrocephalus ORPHA:220497
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, ... OMIM:614424
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Temple Syndrome
Hydrocephalus OMIM:616222
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Bresek Syndrome
Hydrocephalus ORPHA:85284
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Gorlin Syndrome
Hydrocephalus ORPHA:377
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Brainstem dysplasia, Hydrocephalus, Hypoplasia o... OMIM:608091
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Spina bifida occulta, Ventriculomegaly, Extra-axial cerebrospinal f... OMIM:618291
Methylcobalamin Deficiency Type Cble
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly ORPHA:2169
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the pons, Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hypoplasia of the brainstem, Lateral ventricle dilatation OMIM:617751
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Encephalocele, Agenesis of corpus callosum, Hydrocephalus ORPHA:220493
Cach Syndrome
Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem ORPHA:135
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Dandy-Walker malf... OMIM:617822
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Aniridia 3
Aniridia, Cataract OMIM:617142
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventricul... OMIM:613150
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Trisomy 1Q
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:261344
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplas... OMIM:614643
Pontocerebellar Hypoplasia, Type 7
Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly OMIM:614969
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Cryptorchidism, Microcornea, Micropenis OMIM:610125
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Encephalocele, Hydrocephalus ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cataract, Female hypogonadism, Cholelithiasis, Decreased circulating parathyr... OMIM:240300
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level OMIM:146200
Intellectual Developmental Disorder, Autosomal Dominant 56
Pontocerebellar atrophy, Lateral ventricle dilatation OMIM:617854
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:613001
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Peho Syndrome
Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem ORPHA:2836
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormal brainstem morphology ORPHA:2720
Walker-Warburg Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Holoprosencephaly, Agenesis of corpus ... OMIM:253800
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
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin... OMIM:616546
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Emanuel Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation ORPHA:96170
Emanuel Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:609029
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly OMIM:264480
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum OMIM:617296
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Hypoplasia of the... OMIM:236670
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Slc35A2-Cdg
Lateral ventricle dilatation, Abnormal midbrain morphology, Dandy-Walker malformation, Atrophy/De... ORPHA:356961
Crouzon Syndrome
Hydrocephalus OMIM:123500
Desmosterolosis
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:602398
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit... ORPHA:99889
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Meningocele, Lateral ventricle dilatation, Colpocephal... ORPHA:397715
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Rabin-Pappas Syndrome
Hypoplasia of the pons, Hydrocephalus OMIM:620155
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Increased CSF lactate, Atrophy/Degeneration affecting the brainstem ORPHA:565624
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Trisomy 17P
Hydrocephalus ORPHA:261290
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Achondroplasia
Hydrocephalus ORPHA:15
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus OMIM:236680
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Desmosterolosis
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:35107
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620113
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus ORPHA:1865
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Olivopontocerebellar hypoplasia ORPHA:457284
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Ventriculomegaly OMIM:612651
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Agenesis of corpus callosum ORPHA:157
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... OMIM:610828
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation OMIM:257300
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Normal pressure hydrocephalus, Lateral ventricle dilatation, Partial... ORPHA:300570
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae OMIM:615877
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:228308
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:613603
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Stromme Syndrome
Hydrocephalus, Agenesis of corpus callosum OMIM:243605
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly ORPHA:93932
Marfanoid-Progeroid-Lipodystrophy Syndrome