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Gene: Cwh43 MGI:2444131

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Gene Summary

Name:
cell wall biogenesis 43 C-terminal homolog
Synonyms:
C130090K23Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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.

Electroretinography 3

Fundus file

4 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Human diseases caused by Cwh43 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.

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

The table below shows human diseases predicted to be associated to Cwh43 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)
Enlarged sylvian cistern OMIM:615752
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251912
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spastic Paraplegia 88, Autosomal Dominant
Sensory ataxia, Unsteady gait, Ventriculomegaly, Distal sensory impairment OMIM:620106
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Porencephaly
Ventriculomegaly ORPHA:2940
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ataxia, Ventriculomegaly OMIM:618709
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Ventriculomegaly ORPHA:2732
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Intellectual Developmental Disorder, Autosomal Recessive 69
Ataxia, Ventriculomegaly OMIM:618383
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Inability to walk, Ataxia, Spastic gait, Ventriculomegaly OMIM:616486
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Microcephaly 19, Primary, Autosomal Recessive
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:617800
Masa Syndrome
Gait disturbance, Ventriculomegaly ORPHA:2466
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly ORPHA:329228
Microcephaly, Seizures, And Developmental Delay
Ataxia, Ventriculomegaly OMIM:613402
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Developmental And Epileptic Encephalopathy 97
Inability to walk, Ventriculomegaly OMIM:619561
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly OMIM:612691
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251915
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Ventriculomegaly OMIM:615763
Leukoencephalopathy With Vanishing White Matter 4
Unsteady gait, Ventriculomegaly OMIM:620314
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly, Gait ataxia OMIM:619323
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism, Ventriculomegaly ORPHA:1568
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ataxia, Ventriculomegaly OMIM:613925
Oxoglutarate Dehydrogenase Deficiency
Unsteady gait, Dysmetria, Gait ataxia, Falls, Ventriculomegaly OMIM:203740
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Ventriculomegaly ORPHA:1084
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Paresthesia ORPHA:73256
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Masa Syndrome
Hydrocephalus, Shuffling gait, Ventriculomegaly OMIM:303350
Developmental And Epileptic Encephalopathy 59
Inability to walk, Ataxia, Ventriculomegaly OMIM:617904
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly ORPHA:171703
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Broad-based gait, Ataxia, Ventriculomegaly OMIM:206570
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Gait disturbance ORPHA:26
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Ventriculomegaly OMIM:618677
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Ventriculomegaly And Arthrogryposis
Ventriculomegaly OMIM:619501
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Kleeblattschaedel
Hydrocephalus OMIM:148800
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly OMIM:115210
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Ventriculomegaly, Gait ataxia OMIM:617862
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Gait disturbance OMIM:236690
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Chorea, Ataxia, Ventriculomegaly OMIM:619150
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Unsteady gait, Ventriculomegaly, Truncal ataxia OMIM:618273
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Gait ataxia OMIM:616540
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, CSF pleocytosis, Gait disturbance, Increased CSF protein con... OMIM:603472
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Ataxia, Ventriculomegaly OMIM:612951
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly ORPHA:1261
Joubert Syndrome 31
Ventriculomegaly, Truncal ataxia OMIM:617761
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Impaired proprioception, Ventriculomegaly ORPHA:319199
Fried Syndrome
Hydrocephalus, Gait disturbance ORPHA:85335
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Lissencephaly 1
Ventriculomegaly OMIM:607432
Bowen-Conradi Syndrome
Cryptorchidism, Ventriculomegaly ORPHA:1270
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia, Impaired pain sensation ORPHA:1532
Alexander Disease
Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria OMIM:203450
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Broad-based gait OMIM:619470
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Ventriculomegaly ORPHA:1188
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly, Dysmetria OMIM:618251
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Ventriculomegaly, Gait ataxia OMIM:615362
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Ventriculomegaly ORPHA:3207
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Impaired temp... ORPHA:99947
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Ventriculomegaly OMIM:618730
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Ataxia, Ventriculomegaly OMIM:619701
Intellectual Developmental Disorder, X-Linked 111
Unsteady gait, Ventriculomegaly OMIM:301107
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Lissencephaly 3
Ataxia, Ventriculomegaly OMIM:611603
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly ORPHA:500166
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly ORPHA:1980
Juvenile Huntington Disease
Broad-based gait, Ataxia, Chorea, Gait ataxia, Progressive cerebellar ataxia, Ventriculomegaly ORPHA:248111
Multiple Mitochondrial Dysfunctions Syndrome 5
Ventriculomegaly OMIM:617613
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Broad-based gait, Truncal ataxia, Ventriculomegaly, Dysmetria OMIM:606854
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hydrocephalus, Ataxia OMIM:618174
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Athetosis, Gait disturbance, Loss of ambulation, Ventriculomegaly OMIM:618241
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Gait disturbance ORPHA:275543
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Increased CSF protein concentration, Ventriculomegaly OMIM:611722
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Leukoencephalopathy With Vanishing White Matter 5
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Inability to walk, Ventriculomegaly OMIM:617977
Spastic Paraplegia 75, Autosomal Recessive
Impaired distal vibration sensation, Dysmetria, Loss of ambulation, Spastic gait, Ventriculomegaly OMIM:616680
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Broad-based gait, Dysmetria, Progressive cerebellar ataxia, Progressi... ORPHA:363429
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Microlissencephaly
Ventriculomegaly ORPHA:1083
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Ventriculomegaly OMIM:616116
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Inability to walk, Difficulty walking, Ventriculomegaly ORPHA:206559
Simpson-Golabi-Behmel Syndrome, Type 2
Ventriculomegaly OMIM:300209
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly ORPHA:168624
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:250994
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Macrocephaly, Benign Familial
Ventriculomegaly OMIM:153470
Kohlschutter-Tonz Syndrome
Ataxia, Ventriculomegaly OMIM:226750
Macrocephaly, Acquired, With Impaired Intellectual Development
Unilateral cryptorchidism, Ventriculomegaly OMIM:618286
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly OMIM:616570
Microcephaly 5, Primary, Autosomal Recessive
Ventriculomegaly OMIM:608716
Macdermot-Winter Syndrome
Ventriculomegaly OMIM:247990
Oxoglutaric Aciduria
Hydrocephalus, Ataxia ORPHA:31
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly ORPHA:85179
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia OMIM:220220
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Ventriculomegaly OMIM:617051
Hsd10 Disease
Choreoathetosis, Gait disturbance, Ataxia, Ventriculomegaly ORPHA:391417
Neurodevelopmental Disorder With Dystonia And Seizures
Athetosis, Chorea, Ventriculomegaly OMIM:619922
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Ventriculomegaly ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Congenital Muscular Dystrophy Without Intellectual Disability
Difficulty walking, Tip-toe gait, Ventriculomegaly ORPHA:370980
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ataxia, Ventriculomegaly ORPHA:137831
Nasu-Hakola Disease
Hydrocephalus, Chorea, Ventriculomegaly ORPHA:2770
Congenital Disorder Of Glycosylation, Type Iiy
Ventriculomegaly OMIM:620200
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly OMIM:617391
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF lysine... OMIM:616034
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Alexander Disease Type I
Hydrocephalus, Ataxia ORPHA:363717
Mehmo Syndrome
Inability to walk, Difficulty walking, Ventriculomegaly, Gait ataxia OMIM:300148
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly ORPHA:2515
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Gait disturbance, Ventriculomegaly ORPHA:272
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Gait disturbance ORPHA:2181
Gm1-Gangliosidosis, Type Iii
Ataxia, Ventriculomegaly OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Ventriculomegaly OMIM:300699
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Ventriculomegaly ORPHA:101070
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Brain Small Vessel Disease 2
Ventriculomegaly OMIM:614483
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly ORPHA:588
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Unsteady gait OMIM:617542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Ventriculomegaly OMIM:613151
Developmental And Epileptic Encephalopathy 70
Cryptorchidism, Ventriculomegaly OMIM:618298
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Inability to walk, Ventriculomegaly OMIM:614066
Trisomy 5P
Ventriculomegaly ORPHA:1742
Neurodevelopmental Disorder With Involuntary Movements
Athetosis, Chorea, Ventriculomegaly OMIM:617493
Narp Syndrome
Progressive gait ataxia, Ataxia, Ventriculomegaly ORPHA:644
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Galloway-Mowat Syndrome 5
Ataxia, Ventriculomegaly OMIM:617731
Hemangioblastoma
Dysesthesia, Hydrocephalus ORPHA:252054
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Ventriculomegaly ORPHA:2172
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Developmental And Epileptic Encephalopathy 9
Ventriculomegaly OMIM:300088
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Chorea, Ventriculomegaly OMIM:614254
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Hydrocephalus OMIM:613155
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Inability to walk, Ataxia, Ventriculomegaly OMIM:619556
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Paresthesia, Ventriculomegaly, Dysmetria ORPHA:48431
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal CSF pyruvate family amino acid concentration, Ventriculomegaly, Increased CSF lactate ORPHA:255182
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Ventriculomegaly ORPHA:457260
Arachnoiditis
Hydrocephalus, Paresthesia ORPHA:137817
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616355
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus ORPHA:2183
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
3-Hydroxyisobutyric Aciduria
Ventriculomegaly ORPHA:939
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly OMIM:617090
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:619180
Chiari Malformation Type Ii
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy OMIM:207950
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Ventriculomegaly OMIM:616531
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly ORPHA:521390
Hogue-Janssen Syndrome 2
Inability to walk, Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616362
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Catel-Manzke Syndrome
Ventriculomegaly ORPHA:1388
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus OMIM:601794
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size ORPHA:649929
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:618577
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Ventriculomegaly OMIM:225790
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Ventriculomegaly OMIM:611555
Peho-Like Syndrome
Ventriculomegaly OMIM:617507
Gillespie Syndrome
Ataxia, Ventriculomegaly OMIM:206700
17P13.3 Microduplication Syndrome
Ventriculomegaly ORPHA:217385
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Developmental And Epileptic Encephalopathy 65
Ventriculomegaly OMIM:618008
Autosomal Recessive Primary Microcephaly
Ventriculomegaly ORPHA:2512
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ataxia, Ventriculomegaly OMIM:618228
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:609757
Orofaciodigital Syndrome Xv
Ventriculomegaly OMIM:617127
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Increased CSF lactate, Limb ataxia, Ventriculomegaly, Truncal ataxia OMIM:619051
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Chorea, Unsteady gait, Progressive cerebellar ataxia, Ventriculomegaly ORPHA:485350
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Ventriculomegaly ORPHA:1933
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Nephronophthisis 18
Hydrocephalus OMIM:615862
Congenital Disorder Of Glycosylation, Type Iih
Ataxia, Ventriculomegaly OMIM:611182
Pyruvate Dehydrogenase E1-Alpha Deficiency
Choreoathetosis, Episodic ataxia, Ventriculomegaly, Increased CSF lactate OMIM:312170
X-Linked Intellectual Disability, Cantagrel Type
Ventriculomegaly ORPHA:85277
Congenital Muscular Dystrophy With Intellectual Disability
Loss of ambulation, Cryptorchidism, Ventriculomegaly ORPHA:370968
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Dandy-Walker malformation, Vent... OMIM:304340
Maternal Uniparental Disomy Of Chromosome 1
Ataxia, Ventriculomegaly ORPHA:251009
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Developmental And Epileptic Encephalopathy 1
Choreoathetosis, Ventriculomegaly OMIM:308350
Microhydranencephaly
Hydranencephaly, Athetosis, Ventriculomegaly OMIM:605013
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Leukodystrophy, Hypomyelinating, 24
Ventriculomegaly OMIM:619851
Skraban-Deardorff Syndrome
Broad-based gait, Spastic gait, Ventriculomegaly OMIM:617616
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Ventriculomegaly ORPHA:1495
Joubert Syndrome 30
Dandy-Walker malformation, Ventriculomegaly OMIM:617622
Tubulinopathy-Associated Dysgyria
Ataxia, Ventriculomegaly ORPHA:467166
Huntington Disease-Like 1
Chorea, Dysmetria, Gait ataxia, Gait disturbance, Ventriculomegaly ORPHA:157941
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:218350
Christianson Syndrome
Truncal ataxia, Ventriculomegaly, Gait ataxia ORPHA:85278
Orofaciodigital Syndrome Xvi
Inability to walk, Ataxia, Ventriculomegaly OMIM:617563
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Difficulty walking, Ventriculomegaly, Gait ataxia OMIM:617807
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Ventriculomegaly OMIM:611087
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Ventriculomegaly OMIM:617290
Microcephalic Primordial Dwarfism, Toriello Type
Ventriculomegaly ORPHA:2643
Spastic Paraplegia 50, Autosomal Recessive
Ataxia, Ventriculomegaly OMIM:612936
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:175700
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Ventriculomegaly OMIM:300958
Coach Syndrome 2
Hydrocephalus OMIM:619111
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Muscular Dystrophy, Congenital, With Or Without Seizures
Loss of ambulation, Ataxia, Ventriculomegaly OMIM:620166
Pyruvate Dehydrogenase Deficiency
Choreoathetosis, Gait disturbance, Ataxia, Ventriculomegaly ORPHA:765
Joubert Syndrome 9
Encephalocele, Ventriculomegaly OMIM:612285
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Hydrocephalus, Ataxia, Ventriculomegaly OMIM:272200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ventriculomegaly OMIM:613730
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Gait disturbance, Ventriculomegaly OMIM:617903
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Broad-based gait, Ventriculomegaly OMIM:618707
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Ventriculomegaly OMIM:615286
Lissencephaly 8
Occipital encephalocele, Ventriculomegaly OMIM:617255
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Decreased testicular size, Ventriculomegaly, Alobar holoprosencephaly OMIM:615433
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Histidinuria-Renal Tubular Defect Syndrome
Ventriculomegaly ORPHA:2158
Hemimegalencephaly
Ventriculomegaly ORPHA:99802
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Ventriculomegaly, Increased CSF lactate OMIM:619059
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Gait disturbance OMIM:613330
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Intellectual Developmental Disorder, Autosomal Recessive 41
Ventriculomegaly OMIM:615637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Glutaric Acidemia I
Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Inability to walk, Cryptorchidism, Ventriculomegaly OMIM:613156
Cog8-Cdg
Ataxia, Ventriculomegaly ORPHA:95428
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Increased CSF lactate, Lateral ventricle dilatation, Abnormal CSF pyru... ORPHA:79243
Lhermitte-Duclos Disease
Hydrocephalus, Ataxia ORPHA:65285
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Ventriculomegaly, Truncal ataxia ORPHA:88639
Temple Syndrome
Cryptorchidism, Hydrocephalus ORPHA:254516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Rhombencephalosynapsis
Hydrocephalus, Ataxia, Ventriculomegaly ORPHA:59315
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Rasmussen Subacute Encephalitis
Inability to walk, Increased CSF protein concentration, Ventriculomegaly, Abnormal cerebrospinal ... ORPHA:1929
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Ventriculomegaly ORPHA:255138
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Gait disturbance, Ventriculomegaly OMIM:300957
5Q14.3 Microdeletion Syndrome
Ventriculomegaly ORPHA:228384
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Ventriculomegaly OMIM:615760
Noonan Syndrome 12
Ventriculomegaly OMIM:618624
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Rahman Syndrome
Cryptorchidism, Ventriculomegaly OMIM:617537
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ventriculomegaly ORPHA:2772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Difficulty walking, Tip-toe gait, Ventriculomegaly OMIM:606612
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ataxia, Ventriculomegaly OMIM:619833
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Hydrocephalus, Difficulty walking, Dandy-Walker malformation, Ventriculomegaly OMIM:618476
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventriculomegaly OMIM:618974
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Scissor gait, Dysmetria, Truncal ataxia, Spastic gait, Ventriculomegaly OMIM:619121
Developmental And Epileptic Encephalopathy 99
Ventriculomegaly OMIM:619606
Malan Overgrowth Syndrome
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
20P12.3 Microdeletion Syndrome
Ventriculomegaly ORPHA:261295
Chromosome 19P13.13 Deletion Syndrome
Ventriculomegaly OMIM:613638
Lipoyltransferase 1 Deficiency
Ventriculomegaly OMIM:616299
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Multiple Mitochondrial Dysfunctions Syndrome 3
Increased CSF glycine concentration, Ventriculomegaly, Increased CSF lactate OMIM:615330
Pyridoxine-Dependent Epilepsy
Ventriculomegaly ORPHA:3006
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Griscelli Syndrome
Encephalocele, Hydrocephalus, Ataxia ORPHA:381
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Optic Atrophy 11
Ataxia, Gait apraxia, Dysmetria, Athetosis, Ventriculomegaly OMIM:617302
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Ataxia, Gait disturbance ORPHA:220497
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Choreoathetosis, Nonprogressive cerebellar ataxia, Ventriculomegaly ORPHA:431361
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Developmental And Epileptic Encephalopathy 64
Inability to walk, Chorea, Ventriculomegaly OMIM:618004
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Athetosis, Ataxia, Ventriculomegaly, Dysmetria OMIM:617710
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Ventriculomegaly OMIM:619797
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Ventriculomegaly OMIM:615502
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Ventriculomegaly OMIM:618603
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Pontocerebellar Hypoplasia, Type 7
Ataxia, Cryptorchidism, Hydrocephalus, Choreoathetosis, Ventriculomegaly OMIM:614969
Pontocerebellar Hypoplasia, Type 16
Ventriculomegaly OMIM:619527
Tenorio Syndrome
Hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:616260
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ataxia, Chorea, Athetosis, Subependymal nodules, Ventriculomegaly ORPHA:25
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Hydrocephalus ORPHA:171839
Joubert Syndrome
Encephalocele, Hydrocephalus, Ataxia, Gait disturbance ORPHA:475
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Gait disturbance, Ataxia, Ventriculomegaly ORPHA:395
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Pontocerebellar Hypoplasia Type 2
Choreoathetosis, Ventriculomegaly ORPHA:2524
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Decreased testicular size, Ventriculomegaly, Gait ataxia OMIM:300354
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Difficulty walking, Occipit... ORPHA:268810
Galloway-Mowat Syndrome 9
Choreoathetosis, Ventriculomegaly OMIM:619603
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly OMIM:620210
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism ORPHA:1237
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Ataxia, Ventriculomegaly OMIM:618547
Pontocerebellar Hypoplasia, Type 9
Ventriculomegaly OMIM:615809
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:370959
Linear Verrucous Nevus Syndrome
Ventriculomegaly, Dandy-Walker malformation ORPHA:2611
6Q25 Microdeletion Syndrome
Ventriculomegaly ORPHA:251056
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Ataxia OMIM:610688
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Medulloblastoma
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit... ORPHA:616
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Lateral ventricle dilatation, Gait disturbance, Gait imbalance, Difficulty walking, Ventriculomegaly ORPHA:488627
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Congenital Disorder Of Glycosylation, Type If
Ataxia, Ventriculomegaly OMIM:609180
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Inability to walk, Increased CSF protein concentration, Ventriculomegaly OMIM:218000
Temple Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:616222
Joubert Syndrome 14
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Mitochondrial Complex I Deficiency, Nuclear Type 33
Loss of ambulation, Ventriculomegaly, Increased CSF lactate OMIM:618253
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Congenital Neuronal Ceroid Lipofuscinosis
Ventriculomegaly ORPHA:168486
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Baraitser-Winter Syndrome 2
Ventriculomegaly OMIM:614583
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Ventriculomegaly OMIM:618314
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Ventriculomegaly OMIM:618205
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Noncommunicating hydrocephalus OMIM:619320
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Ataxia, Myelopathy, Increased CSF lactate, Cervical myelopathy, Ventriculomegaly OMIM:617186
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Ataxia, Gait disturbance ORPHA:220493
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Ataxia ORPHA:2720
Intellectual Developmental Disorder, Autosomal Dominant 51
Cryptorchidism, Unilateral cryptorchidism, Ventriculomegaly OMIM:617788
Lissencephaly, X-Linked, 2
Decreased testicular size, Ventriculomegaly OMIM:300215
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Orofaciodigital Syndrome Xvii
Ventriculomegaly OMIM:617926
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Crouzon Syndrome
Hydrocephalus ORPHA:207
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Hydrocephalus, Distal sensory... ORPHA:2356
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Ataxia ORPHA:2318
Muenke Syndrome
Hydrocephalus ORPHA:53271
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Gait disturbance, Ventriculomegaly ORPHA:1812
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Gorlin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:377
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Inability to walk, Gait ataxia, Choreoathetosis, Extra-axial cerebrospinal fluid accumula... OMIM:619580
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Gait disturbance, Dilated third ventricle, Ventriculomegaly ORPHA:500055
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased testicular size, Ventriculomegaly ORPHA:261534
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Falls, Ventriculomegaly OMIM:618222
Lissencephaly 6 With Microcephaly
Ventriculomegaly OMIM:616212
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:77298
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cysts, Holoprosencepha... OMIM:619895
Developmental And Epileptic Encephalopathy 84
Chorea, Ventriculomegaly OMIM:618792
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Ventriculomegaly OMIM:615182
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,... OMIM:618291
Neurocutaneous Melanocytosis
Ventriculomegaly, Meningocele, Dandy-Walker malformation ORPHA:2481
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Inability to walk, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Gait ataxia OMIM:619383
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Ventriculomegaly ORPHA:500533
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Ventriculomegaly OMIM:619074
Congenital Sialidosis Type 2
Hydrocephalus, Ataxia, Dysmetria ORPHA:93400
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Ventriculomegaly ORPHA:171680
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Intellectual Disability-Alacrima-Achalasia Syndrome
Ventriculomegaly ORPHA:289483
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism ORPHA:1926
Dural Sinus Malformation
Myelopathy, Hydrocephalus, Ataxia, Somatic sensory dysfunction ORPHA:97339
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Inability to walk, Cryptorchidism, Ataxia, Ventriculomegaly ORPHA:505237
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Hoyeraal-Hreidarsson Syndrome
Ataxia, Ventriculomegaly ORPHA:3322
1P31P32 Microdeletion Syndrome
Ventriculomegaly ORPHA:401986
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly ORPHA:2189
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Thanatophoric Dysplasia, Type Ii
Ventriculomegaly OMIM:187601
Fanconi Anemia, Complementation Group W
Ventriculomegaly OMIM:617784
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ataxia, Dysmetria, Athetosis, Lateral ventricle dilatation, Difficulty ... ORPHA:572798
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Ventriculomegaly, Impaired pain sensation ORPHA:314389
Gm1-Gangliosidosis, Type Ii
Gait disturbance, Ataxia, Ventriculomegaly OMIM:230600
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Ventriculomegaly ORPHA:452
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Ventriculomegaly, Gait ataxia OMIM:300486
Goldberg-Shprintzen Megacolon Syndrome
Ventriculomegaly ORPHA:66629
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:617669
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:616900
Cardiomyopathy, Familial Hypertrophic, 27
Ventriculomegaly OMIM:618052
47,Xyy Syndrome
Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Caribbean Parkinsonism
Progressive gait ataxia, Ventriculomegaly ORPHA:97355
Trisomy 1Q
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:261344
Pontocerebellar Hypoplasia, Type 2B
Chorea, Ventriculomegaly OMIM:612389
Cadds
Ventriculomegaly ORPHA:369942
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida, Waddling gait ORPHA:2839
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Inability to walk, Cryptorchidism, Ventriculomegaly OMIM:617452
49,Xyyyy Syndrome
Azoospermia, Abnormality of the testis size, Decreased testicular size, Ventriculomegaly ORPHA:99330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Ataxia OMIM:608091
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Ventriculomegaly OMIM:610651
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Spastic Paraplegia 51, Autosomal Recessive
Inability to walk, Ventriculomegaly OMIM:613744
Emanuel Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:609029
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Gait disturbance, Ventriculomegaly ORPHA:457485
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Ventriculomegaly ORPHA:96181
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus OMIM:601499
Roifman-Chitayat Syndrome
Ventriculomegaly OMIM:613328
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Ventriculomegaly OMIM:618381
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Ataxia ORPHA:220295
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Ventriculomegaly OMIM:301041
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Cryptorchidism, Dysmetria, Dysdiadochokinesis, Gait disturbance, Ventri... OMIM:616541
Halperin-Birk Syndrome
Inability to walk, Colpocephaly, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Inability to walk, Chorea, Ataxia, Ventriculomegaly OMIM:617804
Mitochondrial Complex I Deficiency, Nuclear Type 37
Ventriculomegaly, Increased CSF lactate OMIM:619272
Ogden Syndrome
Cryptorchidism, Shuffling gait, Ventriculomegaly ORPHA:276432
Walker-Warburg Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Beck-Fahrner Syndrome
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:618798
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Ventriculomegaly ORPHA:2083
Leukodystrophy, Hypomyelinating, 12
Ventriculomegaly OMIM:616683
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Curry-Jones Syndrome
Ventriculomegaly ORPHA:1553
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Ventriculomegaly ORPHA:3224
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ventriculomegaly ORPHA:466934
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Ataxia, Ventriculomegaly, Gait ataxia OMIM:618321
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Alg8-Cdg
Ataxia, Ventriculomegaly ORPHA:79325
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Hydrocephalus OMIM:239300
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Ataxia, Gait disturbance ORPHA:1454
Weiss-Kruszka Syndrome
Colpocephaly, Ventriculomegaly OMIM:618619
Microcephaly 30, Primary, Autosomal Recessive
Ventriculomegaly OMIM:620183
Fg Syndrome Type 1
Cryptorchidism, Hydrocephalus, Broad-based gait, Ventriculomegaly ORPHA:93932
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2075
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Coloboma, Ocular, Autosomal Dominant
Ventriculomegaly OMIM:120200
Angiostrongyliasis
CSF pleocytosis, Hyperesthesia, Paresthesia, Ventriculomegaly ORPHA:74
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Scissor gait, Choreoathetosis, Decreased CSF 5-hydroxyindolacet... OMIM:278800
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Ventriculomegaly, Increased CSF lactate OMIM:604377
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Ventriculomegaly ORPHA:370997
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Warburg Micro Syndrome 3
Inability to walk, Decreased testicular size, Ventriculomegaly OMIM:614222
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Ataxia OMIM:616084
Amish Lethal Microcephaly
Spina bifida, Ventriculomegaly ORPHA:99742
Emanuel Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:96170
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Cryptorchidism, Inability to walk by childhood/adolescence, Choreoathetosis, ... OMIM:620224
Whipple Disease
Hydrocephalus, Ataxia ORPHA:3452
Houge-Janssens Syndrome 3
Ventriculomegaly OMIM:618354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:614643
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Alexander Disease
Ataxia, Aqueductal stenosis, Hydrocephalus, Chorea, Gait disturbance ORPHA:58
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Ventriculomegaly ORPHA:2031
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Ventriculomegaly, Increased CSF lactate ORPHA:500144
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Retractile testis, Ataxia, Ventriculomegaly OMIM:617193
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Malan Syndrome
Ventriculomegaly OMIM:614753
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Ventriculomegaly ORPHA:404473
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Ventriculomegaly ORPHA:1120
Acromelic Frontonasal Dysplasia
Encephalocele, Cryptorchidism, Meningocele, Choroid plexus cyst, Ventriculomegaly ORPHA:1827
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Mpdu1-Cdg
Ventriculomegaly ORPHA:79323
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Pyruvate Carboxylase Deficiency
Ataxia, Increased CSF alanine concentration, Increased CSF citrulline concentration, Increased CS... ORPHA:3008
Neurodegeneration And Seizures Due To Copper Transport Defect
Decreased CSF copper concentration, Ventriculomegaly, Increased CSF lactate OMIM:620306
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Ataxia ORPHA:168577
Brain Malformations With Or Without Urinary Tract Defects
Ventriculomegaly OMIM:613735
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Crouzon Syndrome
Hydrocephalus OMIM:123500
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Luscan-Lumish Syndrome
Ventriculomegaly OMIM:616831
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Hydrocephalus OMIM:619951
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia ORPHA:91348
Combined Oxidative Phosphorylation Deficiency 39
Ventriculomegaly, Increased CSF lactate OMIM:618397
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus ORPHA:2409
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:616546
Sifrim-Hitz-Weiss Syndrome
Cryptorchidism, Gait imbalance, Ventriculomegaly OMIM:617159
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Inability to walk, Lateral ventricle dilatation, Normal pressure hydrocephalus ORPHA:300570
Trisomy 17P
Hydrocephalus ORPHA:261290
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Microcephaly 26, Primary, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:619179
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Achondroplasia
Hydrocephalus ORPHA:15
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Absent outer dynein arms OMIM:244400
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Ventriculomegaly OMIM:620352
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus ORPHA:1865
Congenital Myopathy 22A, Classic
Waddling gait, Normal pressure hydrocephalus OMIM:620351
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Increased CSF lactate OMIM:614946
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Ventriculomegaly ORPHA:261197
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker ma... OMIM:615287
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Pseudo-Torch Syndrome 1
Increased CSF protein concentration, Ventriculomegaly OMIM:251290
Full Nf2-Related Schwannomatosis
Somatic sensory dysfunction, Myelopathy, Hydrocephalus, Unsteady gait, Hyperesthesia ORPHA:637
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:264480
Distal Triplication 15Q
Hydrocele testis, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Choreoathetosis, Ataxia, Ventriculomegaly OMIM:615471
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Desmosterolosis
Hydrocephalus, Ventriculomegaly OMIM:602398
Marshall-Smith Syndrome
Ventriculomegaly ORPHA:561
Pontocerebellar Hypoplasia, Type 2E
Ventriculomegaly OMIM:615851
Familial Multiple Lipomatosis
Ventriculomegaly ORPHA:199276
Bilateral Polymicrogyria
Cerebellar ataxia associated with quadrupedal gait, Ventriculomegaly ORPHA:268940
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:617011
Desmosterolosis
Hydrocephalus, Ventriculomegaly ORPHA:35107
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Holoprosencephaly OMIM:253800
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:257300
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Ventriculomegaly OMIM:612651
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pain insensitivity, Hydrocephalus, Distal sensory impairment OMIM:616007
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Crane-Heise Syndrome
Cryptorchidism, Ventriculomegaly ORPHA:1512
Combined Oxidative Phosphorylation Deficiency 25
Ventriculomegaly OMIM:616430
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ventriculomegaly OMIM:304790
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Ventriculomegaly ORPHA:404443
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1555
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Vacterl With Hydrocephalus
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:3412
Mirage Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:617053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Dandy-Walker malfor... OMIM:236670
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Monosomy 18Q
Bilateral cryptorchidism, Hydrocephalus, Choreoathetosis ORPHA:1600
Holoprosencephaly 3
Holoprosencephaly, Ventriculomegaly OMIM:142945
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Dextrocardia
Hydrocephalus ORPHA:1666
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Athetosis, Ventriculomegaly ORPHA:79351
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Inability to walk, Ventriculomegaly, Truncal ataxia OMIM:620066
Neu-Laxova Syndrome 2
Spina bifida, Ventriculomegaly OMIM:616038
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele OMIM:130720
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Tay-Sachs Disease
Inability to walk, Gait disturbance, Ventriculomegaly, Dysmetria ORPHA:845
Isolated Sedoheptulokinase Deficiency
Ventriculomegaly ORPHA:440713
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Congenital Enterovirus Infection
Ventriculomegaly, CSF lymphocytic pleiocytosis ORPHA:292
7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Unsteady gait, Dysmetria, Ventriculomegaly ORPHA:96121
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Ventriculomegaly OMIM:614749
Cerebrofacioarticular Syndrome
Ataxia, Ventriculomegaly ORPHA:314679
Slc39A8-Cdg
Inability to walk, Ventriculomegaly, Increased CSF lactate ORPHA:468699
Glycine Encephalopathy With Normal Serum Glycine
Ventriculomegaly OMIM:617301
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Seckel Syndrome 9
Ventriculomegaly OMIM:616777
Congenital Disorder Of Deglycosylation 2
Ventriculomegaly OMIM:619775
16P13.11 Microdeletion Syndrome
Cryptorchidism, Holoprosencephaly, Ventriculomegaly ORPHA:261236
Mucopolysaccharidosis Type 1
Hydrocephalus, Paresthesia ORPHA:579
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Mucopolysaccharidosis Type 3
Ataxia, Hydrocephalus, Gait disturbance, Loss of ambulation, Ventriculomegaly ORPHA:581
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ventriculomegaly OMIM:619355
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Chorea, Ventriculomegaly ORPHA:1855
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:457284
Mohr Syndrome
Hydrocephalus OMIM:252100
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly OMIM:618188
Sanjad-Sakati Syndrome
Cryptorchidism, Ventriculomegaly ORPHA:2323
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Achondroplasia
Hydrocephalus OMIM:100800
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Difficulty walking, Ventriculomegaly, Gait ataxia ORPHA:457359
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Decreased CSF albumin concentration, Inability to walk, Chorea, Decreased CSF biopterin level, At... ORPHA:404454
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:2166
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
H Syndrome
Azoospermia, Hydrocephalus, Decreased testicular size ORPHA:168569
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Ventriculomegaly OMIM:601707
Hurler Syndrome
Hydrocephalus OMIM:607014
Linear Nevus Sebaceus Syndrome
Ventriculomegaly, Dandy-Walker malformation ORPHA:2612
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus ORPHA:250989
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus OMIM:101800
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Neurooculorenal Syndrome
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:620305
Stromme Syndrome
Hydrocephalus OMIM:243605
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Developmental And Epileptic Encephalopathy 100
Choreoathetosis, Chorea, Ventriculomegaly, Gait ataxia OMIM:619777
Apert Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:101200
Holoprosencephaly
Encephalocele, Cryptorchidism, Hydrocephalus, Chorea, Spinal dysraphism, Holoprosencephaly, Dandy... ORPHA:2162
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Ventriculomegaly, Truncal ataxia OMIM:301072
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Hydrocephalus, Limb ataxia, Azoospermia, Ventriculomegaly ORPHA:2072
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Ventriculomegaly OMIM:617260
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele ORPHA:90652
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Ventriculomegaly OMIM:610505
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hydrocephalus ORPHA:505248
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Aymé-Gripp Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1272
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Cerebellofaciodental Syndrome
Cryptorchidism, Ventriculomegaly OMIM:616202
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Ataxia ORPHA:79282
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Colpocephaly OMIM:309801
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly ORPHA:2462
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:147791
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Hurler Syndrome
Hydrocephalus ORPHA:93473
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Gait disturbance ORPHA:3042
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus OMIM:305450
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Ventriculomegaly OMIM:614501
Coccidioidomycosis
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal sperm morphology, Hypoglyc... ORPHA:228123
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Meckel Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ... ORPHA:564
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Hydrocephalus OMIM:619512
Osteogenesis Imperfecta
Somatic sensory dysfunction, Ataxia, Hydrocephalus, Noncommunicating hydrocephalus, Paresthesia, ... ORPHA:666
Raine Syndrome
Hydrocephalus OMIM:259775
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:2322
Cockayne Syndrome A
Ataxia, Cryptorchidism, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:216400
Craniopharyngioma
Hydrocephalus ORPHA:54595
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Da... OMIM:249000
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:602535
Dubowitz Syndrome
Cryptorchidism, Hydrocephalus, Spina bifida occulta ORPHA:235
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Ventriculomegaly OMIM:619479
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Gaucher Disease
Hydrocephalus, Ataxia, Ventriculomegaly ORPHA:355
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Ataxia, Hydrocephalus, Tip-toe gait, Falls, Decreased CSF 5-methyltetrahydrofol... OMIM:619475
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Cryptococcosis
Hydrocephalus ORPHA:1546
Meningioma
Hydrocephalus, Ataxia, Difficulty walking ORPHA:2495
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hydrocephalus OMIM:227646
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Hydrocephalus ORPHA:163979
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta ORPHA:2369
Holoprosencephaly 9
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:610829
Trisomy 8P
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Ventriculomegaly OMIM:618164
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Ataxia ORPHA:309282
Knobloch Syndrome 1
Occipital encephalocele, Ataxia, Occipital meningocele, Spina bifida occulta, Ventriculomegaly OMIM:267750
Neurofibromatosis Type 1
Cryptorchidism, Hydrocephalus, Ataxia, Paresthesia ORPHA:636
Fanconi Anemia
Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Abnormal testis morphology, Absent test... ORPHA:84
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele OMIM:311200
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus OMIM:154400
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:363958
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus OMIM:102500
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Alobar Holoprosencephaly
Inability to walk, Neural tube defect, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Neural tube defect, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Neural tube defect, Hydrocephalus ORPHA:93924
Semilobar Holoprosencephaly
Inability to walk, Neural tube defect, Hydrocephalus ORPHA:220386
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Ventriculomegaly, Gait ataxia ORPHA:513456
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Ataxia, Ventriculomegaly OMIM:610442
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Hydrocephalus, Oligozoospermia ORPHA:95699
Hydranencephaly
Ventriculomegaly ORPHA:2177
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Decreased testicular size OMIM:619321
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus ORPHA:2658
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261337
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele OMIM:306955
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus ORPHA:1106
3-Methylglutaconic Aciduria, Type Viii
Ventriculomegaly, Increased CSF lactate OMIM:617248
Cockayne Syndrome B
Cryptorchidism, Normal pressure hydrocephalus, Ataxia OMIM:133540
Oeis Complex
Cryptorchidism, Hydrocephalus, Myelomeningocele OMIM:258040
African Trypanosomiasis
Somatic sensory dysfunction, Akinesia, Myelopathy, Impaired proprioception, Choreoathetosis, Pare... ORPHA:3385
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Hydrocephalus, Colpocephaly, Holoprosencephaly, Dandy-Walker malformation OMIM:270400
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
22Q11.2 Deletion Syndrome
Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital myelomeningocele ORPHA:567
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Split Cord Malformation
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele ORPHA:573278
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Lower limb dysmetria ORPHA:363700
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Hydrocephalus, Myelomeningocele OMIM:219000
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus OMIM:208150
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Colpocephaly, Hydrocephalus, Lateral ventricle dilatation, Cryptorchidism OMIM:210710
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia OMIM:264090
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Abnormal testis morphology ORPHA:2556
Wolf-Hirschhorn Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:194190
Fontaine Progeroid Syndrome
Cryptorchidism, Hydrocephalus OMIM:612289
Tetrasomy 9P
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Oligozoospermia ORPHA:3310
Peters Plus Syndrome
Cryptorchidism, Hydrocephalus, Spina bifida occulta, Ventriculomegaly ORPHA:709
Kabuki Syndrome 1
Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Exstrophy-Epispadias Complex
Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:322
Yunis-Varon Syndrome
Cryptorchidism, Hydrocephalus ORPHA:3472
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Mild fetal ventriculomegaly, Cryptorchidism OMIM:619841
Focal Dermal Hypoplasia
Cryptorchidism, Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:305600
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hydrocephalus, Ataxia, Truncal ataxia ORPHA:3455
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Chromosome 1P36 Deletion Syndrome, Distal
Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation OMIM:607872
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Anencephaly, Severe hydrocephalus OMIM:236680
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Peters-Plus Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:261540
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hydrocephalus, Spina bifida OMIM:304120
Townes-Brocks Syndrome 1
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:107480
Coffin-Siris Syndrome 12
Cryptorchidism, Noncommunicating hydrocephalus OMIM:619325
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation OMIM:619534
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Hydrocephalus OMIM:312870
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele OMIM:268300
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus OMIM:164210

Histopathology

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

There is no histopathology data for Cwh43

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cwh43.

No publications found that use IMPC mice or data for Cwh43.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cwh43em1(IMPC)J Exon Deletion Mice
Cwh43tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cwh43tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cwh43tm43241(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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