Gene Summary

cell wall biogenesis 43 C-terminal homolog

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Electrocardiogram (ECG)

Waveform Image

16 Images

Electroretinography 3

Fundus file

4 Images

Auditory Brain Stem Response

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

8 Images

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
Matching phenotypes Source
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus 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
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Enlarged sylvian cistern OMIM:615752
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Increased CSF protein concentration, Difficulty walking, Episodic ataxia, Hydrocephalus ORPHA:251912
Spastic Paraplegia 88, Autosomal Dominant
Sensory ataxia, Distal sensory impairment, Unsteady gait, Ventriculomegaly OMIM:620106
Dandy-Walker Syndrome
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus OMIM:220200
Ventriculomegaly ORPHA:2940
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Hydrocephalus OMIM:618709
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Ventriculomegaly ORPHA:2732
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus 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
Ataxia, Hydrocephalus ORPHA:99966
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Spastic gait, Inability to walk, Ataxia, Ventriculomegaly OMIM:616486
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Microcephaly 19, Primary, Autosomal Recessive
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:617800
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Masa Syndrome
Gait disturbance, Ventriculomegaly ORPHA:2466
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
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Ventriculomegaly OMIM:615763
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Difficulty walking, Episodic ataxia, Hydrocephalus ORPHA:251915
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ataxia, Ventriculomegaly OMIM:613925
Oxoglutarate Dehydrogenase Deficiency
Unsteady gait, Falls, Ventriculomegaly, Gait ataxia, Dysmetria OMIM:203740
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Ventriculomegaly ORPHA:1084
Congenital Disorder Of Glycosylation, Type Iid
Dandy-Walker malformation, Hydrocephalus OMIM:607091
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Ventriculomegaly OMIM:619323
Masa Syndrome
Ventriculomegaly, Shuffling gait, Hydrocephalus OMIM:303350
Central Neurocytoma
Paresthesia, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Pain insensitivity ORPHA:73256
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:617967
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Ventriculomegaly ORPHA:1568
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly ORPHA:171703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Broad-based gait, Ataxia, Ventriculomegaly OMIM:206570
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Hydrocephalus ORPHA:26
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrocephalus OMIM:148800
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Ventriculomegaly And Arthrogryposis
Ventriculomegaly OMIM:619501
Developmental And Epileptic Encephalopathy 59
Inability to walk, Ataxia, Ventriculomegaly OMIM:617904
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly OMIM:115210
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Broad-based gait, Ventriculomegaly OMIM:617862
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Ventriculomegaly OMIM:618677
Hydrocephalus, Normal-Pressure, 1
Gait disturbance, Normal pressure hydrocephalus OMIM:236690
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Unsteady gait, Truncal ataxia, Ventriculomegaly OMIM:618273
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Ventriculomegaly OMIM:616540
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Falls, Ataxia, Ventriculomegaly OMIM:619150
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Gait disturbance, Ataxia, Increased CSF protein concentration, Ventr... OMIM:603472
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Ataxia, Ventriculomegaly OMIM:612951
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly ORPHA:1261
Joubert Syndrome 31
Truncal ataxia, Ventriculomegaly OMIM:617761
Lissencephaly 1
Ventriculomegaly OMIM:607432
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Impaired proprioception, Ventriculomegaly ORPHA:319199
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Gómez-López-Hernández Syndrome
Impaired pain sensation, Ataxia, Hydrocephalus ORPHA:1532
Fried Syndrome
Gait disturbance, Hydrocephalus ORPHA:85335
Alexander Disease
Increased CSF protein concentration, Dysmetria, Ataxia, Hydrocephalus OMIM:203450
Bowen-Conradi Syndrome
Ventriculomegaly ORPHA:1270
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Ventriculomegaly ORPHA:1188
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus OMIM:600348
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hydrocephalus OMIM:619470
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Ventriculomegaly OMIM:618251
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Ataxia, Ventriculomegaly OMIM:615362
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Ventriculomegaly ORPHA:3207
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired pain sensation, Inability to walk by childhood/adolescence, Paresthesia, Distal sensory ... ORPHA:99947
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Ventriculomegaly OMIM:618730
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly ORPHA:500166
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Ataxia, Ventriculomegaly OMIM:619701
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Lissencephaly 3
Ataxia, Ventriculomegaly OMIM:611603
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly ORPHA:1980
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Juvenile Huntington Disease
Progressive cerebellar ataxia, Ataxia, Chorea, Ventriculomegaly, Gait ataxia, Broad-based gait ORPHA:248111
Multiple Mitochondrial Dysfunctions Syndrome 5
Ventriculomegaly OMIM:617613
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Ventriculomegaly, Increased CSF protein concentration OMIM:611722
Polymicrogyria, Bilateral Frontoparietal
Broad-based gait, Dysmetria, Truncal ataxia, Ventriculomegaly OMIM:606854
Holoprosencephaly 5
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, La... OMIM:609637
Mitochondrial Complex I Deficiency, Nuclear Type 19
Gait disturbance, Inability to walk, Loss of ambulation, Athetosis, Ventriculomegaly OMIM:618241
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
L1 Syndrome
Aqueductal stenosis, Gait disturbance, Hydrocephalus ORPHA:275543
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, Loss of ambulation, Ventriculomegaly, Spastic gait, Dysmetria OMIM:616680
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Ataxia, Hydrocephalus OMIM:618174
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Progressive cerebellar ataxia, Difficulty walking, Progressive gait a... ORPHA:363429
Congenital Hydrocephalus
Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Ventriculomegaly ORPHA:1083
Neural Tube Defects, Susceptibility To
Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus OMIM:182940
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Inability to walk, Difficulty walking, Ventriculomegaly ORPHA:206559
Simpson-Golabi-Behmel Syndrome, Type 2
Ventriculomegaly OMIM:300209
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly ORPHA:168624
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
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
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly OMIM:616570
Microcephaly 5, Primary, Autosomal Recessive
Ventriculomegaly OMIM:608716
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Ventriculomegaly OMIM:616116
Oxoglutaric Aciduria
Ataxia, Hydrocephalus ORPHA:31
Macdermot-Winter Syndrome
Ventriculomegaly OMIM:247990
2,4-Dienoyl-Coa Reductase Deficiency
Choreoathetosis, Increased CSF lysine concentration, Increased CSF lactate, Ventriculomegaly OMIM:616034
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Truncal ataxia, Hydrocephalus OMIM:220220
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly ORPHA:85179
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Hsd10 Disease
Gait disturbance, Choreoathetosis, Ataxia, Ventriculomegaly ORPHA:391417
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Ventriculomegaly OMIM:617051
Partial Duplication/Triplication Of The Short Arm Of Chromosome 9
Dandy-Walker malformation, Ventriculomegaly ORPHA:262767
Nasu-Hakola Disease
Chorea, Hydrocephalus, Ventriculomegaly ORPHA:2770
Distal 7Q11.23 Microduplication Syndrome
Frontal encephalocele, Hydrocephalus ORPHA:261102
Congenital Muscular Dystrophy Without Intellectual Disability
Tip-toe gait, Difficulty walking, Ventriculomegaly ORPHA:370980
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Ventriculomegaly, Gait ataxia ORPHA:500180
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ataxia, Ventriculomegaly ORPHA:137831
Congenital Disorder Of Glycosylation, Type Iiy
Ventriculomegaly OMIM:620200
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly OMIM:617391
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Macrocephaly, Acquired, With Impaired Intellectual Development
Ventriculomegaly OMIM:618286
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Athetosis, Ventriculomegaly OMIM:619922
Alexander Disease Type I
Ataxia, Hydrocephalus ORPHA:363717
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Congenital Muscular Dystrophy, Fukuyama Type
Gait disturbance, Hydrocephalus, Ventriculomegaly ORPHA:272
Gm1-Gangliosidosis, Type Iii
Ataxia, Ventriculomegaly OMIM:230650
Mehmo Syndrome
Gait ataxia, Inability to walk, Difficulty walking, Ventriculomegaly OMIM:300148
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Gait disturbance, Hydrocephalus ORPHA:2181
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly ORPHA:2515
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Ventriculomegaly ORPHA:101070
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Ventriculomegaly OMIM:300699
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Muscle-Eye-Brain Disease
Meningocele, Gait disturbance, Holoprosencephaly, Hydrocephalus ORPHA:588
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Unsteady gait, Hydrocephalus OMIM:617542
Brain Small Vessel Disease 2
Ventriculomegaly OMIM:614483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Ventriculomegaly OMIM:613151
Trisomy 5P
Ventriculomegaly ORPHA:1742
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Athetosis, Ventriculomegaly OMIM:617493
Spastic Paraplegia 47, Autosomal Recessive
Inability to walk, Waddling gait, Ventriculomegaly OMIM:614066
Narp Syndrome
Progressive gait ataxia, Ataxia, Ventriculomegaly ORPHA:644
Dysesthesia, Hydrocephalus ORPHA:252054
Galloway-Mowat Syndrome 5
Ataxia, Ventriculomegaly OMIM:617731
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Hydrocephalus OMIM:613155
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Ventriculomegaly ORPHA:2172
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Inability to walk, Ventriculomegaly OMIM:614254
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Craniotelencephalic Dysplasia
Arrhinencephaly, Frontal encephalocele, Hydrocephalus ORPHA:1528
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Inability to walk, Ataxia, Ventriculomegaly OMIM:619556
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Developmental And Epileptic Encephalopathy 70
Ventriculomegaly OMIM:618298
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Paresthesia, Dysmetria, Ataxia, Ventriculomegaly ORPHA:48431
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Ventriculomegaly ORPHA:255182
Paresthesia, Hydrocephalus ORPHA:137817
Chiari Malformation Type Ii
Cervical myelopathy, Ataxia, Myelomeningocele, Spina bifida, Hydrocephalus OMIM:207950
Intellectual Developmental Disorder, Autosomal Dominant 35
Gait ataxia, Hydrocephalus, Ventriculomegaly OMIM:616355
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
3-Hydroxyisobutyric Aciduria
Ventriculomegaly ORPHA:939
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus OMIM:602200
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Ventriculomegaly ORPHA:457260
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Developmental And Epileptic Encephalopathy 9
Ventriculomegaly OMIM:300088
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Ventriculomegaly OMIM:616531
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus ORPHA:2183
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly ORPHA:521390
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Intellectual Developmental Disorder, Autosomal Dominant 36
Gait ataxia, Inability to walk, Hydrocephalus, Ventriculomegaly OMIM:616362
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Catel-Manzke Syndrome
Ventriculomegaly ORPHA:1388
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly OMIM:617090
Non Rare In Europe: Central Precocious Puberty
Hydrocephalus ORPHA:759
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Microcephaly 27, Primary, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:619180
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Akinesia, Dandy-Walker malformation 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
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Epilepsy, Early-Onset, Vitamin B6-Dependent
Ventriculomegaly OMIM:617290
Gillespie Syndrome
Ataxia, Ventriculomegaly OMIM:206700
17P13.3 Microduplication Syndrome
Ventriculomegaly ORPHA:217385
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Hydranencephaly, Athetosis, Ventriculomegaly OMIM:605013
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:163961
Developmental And Epileptic Encephalopathy 65
Ventriculomegaly OMIM:618008
Autosomal Recessive Primary Microcephaly
Ventriculomegaly ORPHA:2512
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ataxia, Ventriculomegaly OMIM:618228
Orofaciodigital Syndrome Xv
Ventriculomegaly OMIM:617127
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Ventriculomegaly ORPHA:1933
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Truncal ataxia, Increased CSF lactate, Ventriculomegaly OMIM:619051
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Nephronophthisis 18
Hydrocephalus OMIM:615862
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Choreoathetosis, Increased CSF lactate, Ventriculomegaly OMIM:312170
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Congenital Disorder Of Glycosylation, Type Iih
Ataxia, Ventriculomegaly OMIM:611182
X-Linked Intellectual Disability, Cantagrel Type
Ventriculomegaly ORPHA:85277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:613153
Maternal Uniparental Disomy Of Chromosome 1
Ataxia, Ventriculomegaly ORPHA:251009
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Pettigrew Syndrome
Hydrocephalus, Aqueductal stenosis, Ventriculomegaly, Gait ataxia, Dandy-Walker malformation, Cho... OMIM:304340
Developmental And Epileptic Encephalopathy 1
Choreoathetosis, Ventriculomegaly OMIM:308350
Leukodystrophy, Hypomyelinating, 24
Ventriculomegaly OMIM:619851
Williams-Beuren Region Duplication Syndrome
Gait disturbance, Hydrocephalus, Ventriculomegaly OMIM:609757
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus OMIM:147800
Congenital Muscular Dystrophy With Intellectual Disability
Loss of ambulation, Ventriculomegaly ORPHA:370968
Joubert Syndrome 30
Dandy-Walker malformation, Ventriculomegaly OMIM:617622
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Ventriculomegaly ORPHA:1495
Obsolete: Arnold-Chiari Malformation Type Ii
Somatic sensory dysfunction, Ataxia, Myelomeningocele, Meningocele, Hydrocephalus, Aqueductal ste... ORPHA:1136
Tubulinopathy-Associated Dysgyria
Ataxia, Ventriculomegaly ORPHA:467166
Huntington Disease-Like 1
Gait disturbance, Chorea, Ventriculomegaly, Gait ataxia, Dysmetria ORPHA:157941
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Unsteady gait, Progressive cerebellar ataxia, Ventriculomegaly ORPHA:485350
Orofaciodigital Syndrome Xvi
Inability to walk, Ataxia, Ventriculomegaly OMIM:617563
Meckel Syndrome, Type 3
Occipital encephalocele, Dandy-Walker malformation, Hydrocephalus OMIM:607361
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Skraban-Deardorff Syndrome
Spastic gait, Broad-based gait, Ventriculomegaly OMIM:617616
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Christianson Syndrome
Gait ataxia, Truncal ataxia, Ventriculomegaly ORPHA:85278
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Ventriculomegaly OMIM:611087
Microcephalic Primordial Dwarfism, Toriello Type
Ventriculomegaly ORPHA:2643
Thanatophoric Dysplasia Type 2
Encephalocele, Holoprosencephaly, Hydrocephalus, Ventriculomegaly ORPHA:93274
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Gait ataxia, Difficulty walking, Broad-based gait, Ventriculomegaly OMIM:617807
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Coach Syndrome 2
Hydrocephalus OMIM:619111
Spastic Paraplegia 50, Autosomal Recessive
Ataxia, Ventriculomegaly OMIM:612936
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Ventriculomegaly OMIM:300958
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Joubert Syndrome 9
Encephalocele, Ventriculomegaly OMIM:612285
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Hydrocephalus, Ataxia, Ventriculomegaly OMIM:272200
Muscular Dystrophy, Congenital, With Or Without Seizures
Loss of ambulation, Ataxia, Ventriculomegaly OMIM:620166
Pyruvate Dehydrogenase Deficiency
Gait disturbance, Choreoathetosis, Ataxia, Ventriculomegaly ORPHA:765
Dopa-Responsive Dystonia
Inability to walk, Gait disturbance, Abnormal CSF biopterin concentration, Difficulty walking, De... ORPHA:255
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ventriculomegaly, Nasofrontal encephalocele, Hydrocephalus OMIM:614195
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Broad-based gait, Ventriculomegaly OMIM:618707
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Histidinuria-Renal Tubular Defect Syndrome
Ventriculomegaly ORPHA:2158
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Ventriculomegaly ORPHA:99802
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Gait disturbance, Hydrocephalus OMIM:613330
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Ventriculomegaly OMIM:615286
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Increased CSF lactate, Ventriculomegaly OMIM:619059
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Ventriculomegaly OMIM:617268
Plasminogen Deficiency, Type I
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:217090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Glutaric Acidemia I
Choreoathetosis, Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Ataxia, Ventriculomegaly ORPHA:95428
Lissencephaly 8
Occipital encephalocele, Ventriculomegaly OMIM:617255
Lhermitte-Duclos Disease
Ataxia, Hydrocephalus ORPHA:65285
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Ataxia, Abnormal CSF pyruvate family amino acid concentration, Lateral ventric... ORPHA:79243
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Ventriculomegaly ORPHA:137902
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Hydrocephalus, Ataxia, Ventriculomegaly ORPHA:59315
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly OMIM:613730
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Gait disturbance, Ventriculomegaly OMIM:617903
Intellectual Developmental Disorder, Autosomal Recessive 41
Ventriculomegaly OMIM:615637
Rasmussen Subacute Encephalitis
Abnormal cerebrospinal fluid morphology, Inability to walk, Increased CSF protein concentration, ... ORPHA:1929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Dandy-Walker malformation, Dilated... OMIM:613154
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Ventriculomegaly ORPHA:255138
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Inability to walk, Ventriculomegaly OMIM:613156
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Temple Syndrome
Hydrocephalus ORPHA:254516
5Q14.3 Microdeletion Syndrome
Ventriculomegaly ORPHA:228384
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Ventriculomegaly OMIM:615760
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Ventriculomegaly ORPHA:88639
Noonan Syndrome 12
Ventriculomegaly OMIM:618624
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Ventriculomegaly OMIM:615433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Difficulty walking, Ventriculomegaly OMIM:606612
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ataxia, Ventriculomegaly OMIM:619833
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventriculomegaly OMIM:618974
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Difficulty walking, Hydrocephalus, Ataxia, Ventriculomegaly, Dandy-Walker malformation OMIM:618476
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Developmental And Epileptic Encephalopathy 99
Ventriculomegaly OMIM:619606
Lipoyltransferase 1 Deficiency
Ventriculomegaly OMIM:616299
20P12.3 Microdeletion Syndrome
Ventriculomegaly ORPHA:261295
Multiple Mitochondrial Dysfunctions Syndrome 3
Increased CSF glycine concentration, Increased CSF lactate, Ventriculomegaly OMIM:615330
Griscelli Syndrome
Encephalocele, Ataxia, Hydrocephalus ORPHA:381
Chromosome 19P13.13 Deletion Syndrome
Ventriculomegaly OMIM:613638
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Scissor gait, Ventriculomegaly, Spastic gait, Truncal ataxia, Dysmetria OMIM:619121
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Pyridoxine-Dependent Epilepsy
Ventriculomegaly ORPHA:3006
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventriculomegaly ORPHA:2772
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Congenital Myopathy 13
Ventriculomegaly OMIM:255995
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Ventriculomegaly OMIM:300957
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:620156
Joubert Syndrome With Renal Defect
Encephalocele, Gait disturbance, Ataxia, Hydrocephalus ORPHA:220497
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Athetosis, Dysmetria, Ataxia, Ventriculomegaly OMIM:617710
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Nonprogressive cerebellar ataxia, Choreoathetosis, Ventriculomegaly ORPHA:431361
Malan Overgrowth Syndrome
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Optic Atrophy 11
Ataxia, Athetosis, Gait apraxia, Ventriculomegaly, Dysmetria OMIM:617302
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Developmental And Epileptic Encephalopathy 64
Chorea, Inability to walk, Ventriculomegaly OMIM:618004
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Hydrocephalus OMIM:614219
Joubert Syndrome
Encephalocele, Gait disturbance, Ataxia, Hydrocephalus ORPHA:475
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Communicating hydrocephalus, Chorea, Ventriculomegaly, Athetosis, Subependymal nodules ORPHA:25
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Pontocerebellar Hypoplasia, Type 16
Ventriculomegaly OMIM:619527
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Gait disturbance, Hydrocephalus, Ataxia, Ventriculomegaly ORPHA:395
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Isolated Posterior Meningocele
Difficulty walking, Hydrocephalus, Meningocele, Lipomyelomeningocele, Occipital meningocele, Neur... ORPHA:268810
Rahman Syndrome
Ventriculomegaly OMIM:617537
Pontocerebellar Hypoplasia, Type 7
Choreoathetosis, Hydrocephalus, Ataxia, Ventriculomegaly OMIM:614969
Galloway-Mowat Syndrome 9
Choreoathetosis, Ventriculomegaly OMIM:619603
Pontocerebellar Hypoplasia Type 2
Choreoathetosis, Ventriculomegaly ORPHA:2524
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly OMIM:620210
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Ventriculomegaly OMIM:618603
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Ataxia, Ventriculomegaly OMIM:618547
Tenorio Syndrome
Gait disturbance, Hydrocephalus, Ventriculomegaly OMIM:616260
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Dilated fourth ventricle, Hydrocephalus, Ventriculomegaly ORPHA:370959
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Intellectual Developmental Disorder, Autosomal Dominant 21
Ventriculomegaly OMIM:615502
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Linear Verrucous Nevus Syndrome
Dandy-Walker malformation, Ventriculomegaly ORPHA:2611
Joubert Syndrome 14
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Joubert Syndrome 6
Enlarged fossa interpeduncularis, Dilated fourth ventricle, Ataxia OMIM:610688
Pontocerebellar Hypoplasia, Type 9
Ventriculomegaly OMIM:615809
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Ventriculomegaly OMIM:619797
6Q25 Microdeletion Syndrome
Ventriculomegaly ORPHA:251056
Congenital Disorder Of Glycosylation, Type If
Ataxia, Ventriculomegaly OMIM:609180
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Increased CSF protein concentration, Inability to walk, Ventriculomegaly OMIM:218000
Progressive cerebellar ataxia, Ataxia, Hydrocephalus, Cerebellar ataxia associated with quadruped... ORPHA:616
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait disturbance, Difficulty walking, Lateral ventricle dilatation, Ventriculomegaly, Gait imbalance ORPHA:488627
Mitochondrial Complex I Deficiency, Nuclear Type 33
Loss of ambulation, Increased CSF lactate, Ventriculomegaly OMIM:618253
Baraitser-Winter Syndrome 2
Ventriculomegaly OMIM:614583
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Congenital Neuronal Ceroid Lipofuscinosis
Ventriculomegaly ORPHA:168486
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Ventriculomegaly OMIM:300354
Snijders Blok-Campeau Syndrome
Unsteady gait, Broad-based gait, Ventriculomegaly OMIM:618205
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Hydrocephalus ORPHA:2720
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Ventriculomegaly OMIM:618314
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Ataxia, Myelopathy, Ventriculomegaly, Increased CSF lactate OMIM:617186
Joubert Syndrome With Ocular Defect
Encephalocele, Gait disturbance, Ataxia, Hydrocephalus ORPHA:220493
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Dandy-Walker malformation, Hydrocephalus ORPHA:79332
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Noncommunicating hydrocephalus OMIM:619320
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Arachnoid Cyst
Encephalocele, Distal sensory impairment, Paresthesia, Inability to walk, Gait disturbance, Hydro... ORPHA:2356
Crouzon Syndrome
Hydrocephalus ORPHA:207
Orofaciodigital Syndrome Xvii
Ventriculomegaly OMIM:617926
Joubert Syndrome With Oculorenal Defect
Encephalocele, Ataxia, Hydrocephalus ORPHA:2318
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Muenke Syndrome
Hydrocephalus ORPHA:53271
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Temple Syndrome
Hydrocephalus OMIM:616222
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Falls, Ventriculomegaly OMIM:618222
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:1647
Lissencephaly, X-Linked, 2
Ventriculomegaly OMIM:300215
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Hydrocephalus OMIM:220210
Myopathy, Centronuclear, X-Linked
Dandy-Walker malformation, Hydrocephalus OMIM:310400
Bresek Syndrome
Hydrocephalus ORPHA:85284
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Gait disturbance, Hydrocephalus, Ventriculomegaly ORPHA:1812
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Ataxia, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation, Gait a... OMIM:619580
Lissencephaly 6 With Microcephaly
Ventriculomegaly OMIM:616212
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Gorlin Syndrome
Hydrocephalus ORPHA:377
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Developmental And Epileptic Encephalopathy 84
Chorea, Ventriculomegaly OMIM:618792
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Ventriculomegaly OMIM:615182
Holoprosencephaly 14
Hydrocephalus, Aqueductal stenosis, Alobar holoprosencephaly, Holoprosencephaly, Ventriculomegaly... OMIM:619895
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Spina bifida occulta, Lateral ventricle dilatation,... OMIM:618291
Neurocutaneous Melanocytosis
Meningocele, Dandy-Walker malformation, Ventriculomegaly ORPHA:2481
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gait disturbance, Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Congenital Sialidosis Type 2
Dysmetria, Ataxia, Hydrocephalus ORPHA:93400
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Ventriculomegaly ORPHA:500533
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Extra-axial cerebrospinal fluid accumulation, Gait ataxia, Inability to walk, Ventriculomegaly OMIM:619383
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Ventriculomegaly ORPHA:171680
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Ventriculomegaly OMIM:619074
Arrhinencephaly, Anencephaly, Hydrocephalus ORPHA:2189
Dural Sinus Malformation
Myelopathy, Somatic sensory dysfunction, Ataxia, Hydrocephalus ORPHA:97339
Hoyeraal-Hreidarsson Syndrome
Ataxia, Ventriculomegaly ORPHA:3322
Thanatophoric Dysplasia, Type Ii
Ventriculomegaly OMIM:187601
Fanconi Anemia, Complementation Group W
Ventriculomegaly OMIM:617784
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Gm1-Gangliosidosis, Type Ii
Gait disturbance, Ataxia, Ventriculomegaly OMIM:230600
Intellectual Developmental Disorder, Autosomal Dominant 51
Ventriculomegaly OMIM:617788
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Difficulty walking, Lateral ventricle dilatation, Ventriculomegaly, Athetosis, Dilated fo... ORPHA:572798
1P31P32 Microdeletion Syndrome
Ventriculomegaly ORPHA:401986
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:617669
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Inability to walk, Ataxia, Ventriculomegaly ORPHA:505237
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Goldberg-Shprintzen Megacolon Syndrome
Ventriculomegaly ORPHA:66629
49,Xxxyy Syndrome
Ventriculomegaly ORPHA:261534
Cardiomyopathy, Familial Hypertrophic, 27
Ventriculomegaly OMIM:618052
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:616900
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Intellectual Disability-Alacrima-Achalasia Syndrome
Ventriculomegaly ORPHA:289483
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycorrhachia, Increased CSF lactate, Hydrocephalus ORPHA:90065
Xq12-Q13.3 Duplication Syndrome
Impaired pain sensation, Ventriculomegaly ORPHA:314389
Pontocerebellar Hypoplasia, Type 2B
Chorea, Ventriculomegaly OMIM:612389
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Waddling gait, Hydrocephalus ORPHA:2839
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Ventriculomegaly OMIM:610651
Caribbean Parkinsonism
Progressive gait ataxia, Ventriculomegaly ORPHA:97355
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Hydrocephalus OMIM:612938
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Ventriculomegaly OMIM:300486
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Alkuraya-Kucinskas Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:617822
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:617281
X-Linked Lissencephaly With Abnormal Genitalia
Ventriculomegaly ORPHA:452
Spastic Paraplegia 51, Autosomal Recessive
Inability to walk, Ventriculomegaly OMIM:613744
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Trisomy 1Q
Hydrocephalus, Ventriculomegaly ORPHA:261344
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
Roifman-Chitayat Syndrome
Ventriculomegaly OMIM:613328
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Spina bifida occulta, Hydrocephalus ORPHA:2437
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Ventriculomegaly OMIM:618381
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Hydrocephalus ORPHA:220295
Emanuel Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:609029
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Ventriculomegaly OMIM:301041
Mitochondrial Complex I Deficiency, Nuclear Type 37
Increased CSF lactate, Ventriculomegaly OMIM:619272
Halperin-Birk Syndrome
Colpocephaly, Inability to walk, Semilobar holoprosencephaly, Ventriculomegaly OMIM:618651
47,Xyy Syndrome
Azoospermia, Oligospermia, Hydrocephalus ORPHA:8
Leukodystrophy, Hypomyelinating, 12
Ventriculomegaly OMIM:616683
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ventriculomegaly ORPHA:466934
Curry-Jones Syndrome
Ventriculomegaly ORPHA:1553
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Ventriculomegaly ORPHA:457485
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Hydrocephalus OMIM:239300
Ataxia, Ventriculomegaly ORPHA:79325
3C Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:7
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Ventriculomegaly ORPHA:3224
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Chorea, Inability to walk, Ataxia, Ventriculomegaly OMIM:617804
Short Stature, Microcephaly, And Endocrine Dysfunction
Gait disturbance, Ataxia, Dysdiadochokinesis, Ventriculomegaly, Broad-based gait, Dysmetria OMIM:616541
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Gait ataxia, Ataxia, Ventriculomegaly OMIM:618321
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Gait disturbance, Ataxia, Hydrocephalus ORPHA:1454
Walker-Warburg Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:899
Maternal Uniparental Disomy Of Chromosome 6
Ventriculomegaly ORPHA:96181
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:459061
Microcephaly 30, Primary, Autosomal Recessive
Ventriculomegaly OMIM:620183
Weiss-Kruszka Syndrome
Colpocephaly, Ventriculomegaly OMIM:618619
Beck-Fahrner Syndrome
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:618798
Ogden Syndrome
Shuffling gait, Ventriculomegaly ORPHA:276432
Hyperesthesia, CSF pleocytosis, Paresthesia, Ventriculomegaly ORPHA:74
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased CSF lactate, Ventriculomegaly OMIM:604377
Coloboma, Ocular, Autosomal Dominant
Ventriculomegaly OMIM:120200
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Ventriculomegaly ORPHA:2083
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Ventriculomegaly ORPHA:370997
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Ataxia OMIM:616084
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Hydrocephalus OMIM:612863
Amish Lethal Microcephaly
Spina bifida, Ventriculomegaly ORPHA:99742
Fg Syndrome Type 1
Hydrocephalus, Broad-based gait, Ventriculomegaly ORPHA:93932
Whipple Disease
Ataxia, Hydrocephalus ORPHA:3452
Meckel Syndrome, Type 6
Anencephaly, Occipital encephalocele, Hydrocephalus OMIM:612284
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:614643
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Ventriculomegaly OMIM:618354
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Increased CSF lactate, Ventriculomegaly ORPHA:500144
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
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Ventriculomegaly ORPHA:2031
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Emanuel Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:96170
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Ventriculomegaly ORPHA:404473
Dyssegmental Dysplasia, Rolland-Desbuquois Type