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Gene: Rfx4 MGI:1918387

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

regulatory factor X, 4 (influences HLA class II expression)

Synonyms:

4933412G19Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Rfx4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Rfx4 (0 diseases)
Human diseases predicted to be associated with Rfx4 (575 diseases)

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

The table below shows human diseases predicted to be associated to Rfx4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Craniofacial Conodysplasia	Spinal cord compression, Hydrocephalus	ORPHA:85168
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Spastic Paraplegia 25, Autosomal Recessive	Spinal cord compression	OMIM:608220
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus	OMIM:166990
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Ossification Of The Posterior Longitudinal Ligament Of Spine	Spinal cord compression, Myelopathy	OMIM:602475
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis	ORPHA:1496
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Cryptorchidism, Abnormal anterior horn cell morphology, N...	OMIM:611890
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis	ORPHA:3035
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis	ORPHA:1788
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Hydrocephalus	OMIM:300886
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Cerebellar atrophy, Spinocerebellar atrophy	OMIM:215470
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Galloway-Mowat Syndrome	Aqueductal stenosis	ORPHA:2065
Alexander Disease	Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Hypertension, Hypotension	ORPHA:58
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem	ORPHA:352682
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Vacterl With Hydrocephalus	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:3412
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Neonatal death	OMIM:253310
Neurooculorenal Syndrome	Ectopic posterior pituitary, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of th...	OMIM:620305
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Pheochromocytoma, Parathyroid ade...	OMIM:162200
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Microcephaly-Micromelia Syndrome	Aqueductal stenosis	OMIM:251230
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:250994
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Gómez-López-Hernández Syndrome	Hydrocephalus, Abnormal brainstem morphology	ORPHA:1532
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Pfeiffer Syndrome Type 3	Aqueductal stenosis	ORPHA:93260
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the pons, Elongated superior ce...	OMIM:619512
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Lateral ventricle dilatation	OMIM:221770
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Hydrocephalus	OMIM:619302
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Fried Syndrome	Hydrocephalus	ORPHA:85335
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size	ORPHA:649929
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Abnormal upper motor n...	ORPHA:275872
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr...	ORPHA:90065
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Cardiomyopathy, Hypoplasia of the brainstem, Hydrocephalus	OMIM:613155
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Mitral regurgitation	ORPHA:83473
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Aortic valve stenosis	OMIM:615599
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology	ORPHA:52430
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology	ORPHA:2590
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Coach Syndrome 2	Molar tooth sign on MRI, Hypertension, Hydrocephalus	OMIM:619111
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis	OMIM:612577
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Lissencephaly 5	Occipital encephalocele, Hypoplasia of the brainstem, Hydrocephalus	OMIM:615191
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Pulmonic stenosis, Mitral stenosis	OMIM:306955
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus	OMIM:154400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hypoplasia of the brainstem, Hydrocephalus	OMIM:618174
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hydrocephalus, Pericarditis	ORPHA:163596
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:608030
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Nephronophthisis 18	Hypertension, Hydrocephalus	OMIM:615862
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft	OMIM:617542
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation	OMIM:220220
Caudal Duplication	Cryptorchidism, Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Enlarged pol...	ORPHA:91348
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Secondary growth hormone deficiency, Hydrocephalus, Pi...	ORPHA:91350
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Molar tooth sign...	OMIM:611134
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Hydrocephalus	ORPHA:2181
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus	OMIM:601794
Charge Syndrome	Aqueductal stenosis, Cryptorchidism, Holoprosencephaly, Anterior hypopituitarism, Dandy-Walker ma...	ORPHA:138
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Abnormal spinal cord morphology, Hydrocephalus	ORPHA:99947
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:105400
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Dilated fourth ventricle, Cerebellar atrophy, Degeneratio...	ORPHA:276244
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly	ORPHA:272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Dandy-Walke...	OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus	OMIM:615181
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Cryptorchidism, Abnormal anterior horn cell morphology	ORPHA:1145
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology	ORPHA:412066
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:618577
Hec Syndrome	Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Vaginal hydrocele	ORPHA:2119
Temple Syndrome	Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test	ORPHA:254516
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis	OMIM:617892
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Bile duct proliferation, Dandy-Walker malformation	OMIM:607361
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Olivopontocerebellar hypoplasia, Hypoplasia of...	ORPHA:370959
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Cryptorchidism, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Anterior pituitary hypoplasia...	OMIM:619534
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Isolated Posterior Meningocele	Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malfo...	ORPHA:268810
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hydrocephalus	OMIM:269920
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Pallister-Hall-Like Syndrome	Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus	OMIM:241800
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology	ORPHA:139578
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Hydrocephalus	ORPHA:31
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hydrocephalus, Pulmonic stenosis, Aortic v...	OMIM:220210
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Williams-Beuren Region Duplication Syndrome	Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom...	OMIM:609757
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology	ORPHA:494
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:175700
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:612069
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Dandy-Walker malfo...	OMIM:225790
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:218350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arrhythmia, Ventriculomegaly	ORPHA:60040
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atrioventricular block...	ORPHA:398124
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Hypoplasia of t...	OMIM:614424
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:171839
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Microphthalmia, Syndromic 11	Agenesis of pineal gland	OMIM:614402
Arachnoiditis	Hydrocephalus	ORPHA:137817
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Mitral regurgitation, Ventriculomegaly	OMIM:603387
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the pons, Hydrocephalus, Retinal telangiectasia	OMIM:620157
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Temple Syndrome	Cryptorchidism, Hydrocephalus, Decreased testicular size	OMIM:616222
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Dilated th...	OMIM:613154
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology	OMIM:601162
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Methylcobalamin Deficiency Type Cble	Hypertension, Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
47,Xyy Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Abnormal brainstem morph...	ORPHA:8
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:616362
Bresek Syndrome	Cryptorchidism, Hydrocephalus, Decreased testicular size	ORPHA:85284
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, Hydrocephalus, ST segment e...	OMIM:261740
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Craniopharyngioma	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Myocardial infarction, Hydrocephalu...	ORPHA:54595
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Gorlin Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:377
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Hydrocephalus, Abnormality of the parathyroid gl...	ORPHA:2969
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Tenorio Syndrome	Raynaud phenomenon, Hydrocephalus, Syncope, Ventriculomegaly	OMIM:616260
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Brainstem dysplasia, Hydrocephalus, Hypoplasia o...	OMIM:608091
Japanese Encephalitis	Paucity of anterior horn motor neurons, Abnormal pons morphology, Hyperintensity of MRI T2 signal...	ORPHA:79139
Triploidy	Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:608627
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Emanuel Syndrome	Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformatio...	OMIM:609029
Diabetic Embryopathy	Cryptorchidism, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Holoprosencephaly	ORPHA:77298
Pontocerebellar Hypoplasia, Type 7	Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Hypoplasia of the brainstem, Ventriculomegaly	OMIM:614969
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Dandy-Walker malf...	OMIM:617822
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly	ORPHA:2189
Joubert Syndrome 38	Molar tooth sign on MRI, Ectopic posterior pituitary, Small pituitary gland, Decreased response t...	OMIM:619476
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Czeizel-Losonci Syndrome	Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta	ORPHA:2437
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Anterior pitu...	ORPHA:67045
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S...	ORPHA:97339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Hydrocephalus	OMIM:615249
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Dextrocardia	Abnormal EKG, Hydrocephalus, Pancreatic hypoplasia, T-wave inversion	ORPHA:1666
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Bile duct proliferation	OMIM:612284
3C Syndrome	Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformation, Ventriculomegaly	ORPHA:7
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Hyp...	ORPHA:3452
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation	ORPHA:459061
Emanuel Syndrome	Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformatio...	ORPHA:96170
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Tetrasomy 5P	Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension, Heart murmur	ORPHA:3309
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy	OMIM:614298
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Hydrocephalus, Tricuspid regurgitation, Lateral ventricle dilatation	OMIM:612863
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation, Telangiectasia	OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Hypoplasia of the brainstem, Holoprosenceph...	OMIM:253800
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly	OMIM:614576
Joubert Syndrome With Oculorenal Defect	Molar tooth sign on MRI, Encephalocele, Hydrocephalus	ORPHA:2318
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Idiopathic Camptocormia	Abnormal pons morphology, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis	ORPHA:1320
Fg Syndrome Type 1	Cryptorchidism, Hydrocephalus, Small pituitary gland, Pulmonary arterial hypertension, Ventriculo...	ORPHA:93932
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis	OMIM:615911
Joubert Syndrome With Renal Defect	Molar tooth sign on MRI, Encephalocele, Hydrocephalus	ORPHA:220497
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Trisomy 1Q	Cryptorchidism, Hydrocephalus, Ventriculomegaly	ORPHA:261344
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hydrocephalus	OMIM:614886
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Cerebral Visual Impairment	Intracranial hemorrhage, Hydrocephalus, Ischemic stroke	ORPHA:447788
Congenital Sialidosis Type 2	Abnormal EKG, Hydrocephalus, Telangiectasia	ORPHA:93400
Culler-Jones Syndrome	Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism	OMIM:615849
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus	OMIM:601499
Peho Syndrome	Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	ORPHA:2836
Capillary Malformation-Arteriovenous Malformation	Epistaxis, High-output congestive heart failure, Hydrocephalus, Congestive heart failure, Telangi...	ORPHA:137667
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Hydrocephalus, Pulmonary arteria...	ORPHA:974
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Monosomy 18Q	Left-to-right shunt, Bilateral cryptorchidism, Congestive heart failure, Hydrocephalus, Mitral re...	ORPHA:1600
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Supernumerary nipple	ORPHA:1812
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Trisomy 17P	Hydrocephalus, Aortic valve stenosis	ORPHA:261290
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Walker-Warburg Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Lhermitte-Duclos Disease	Hydrocephalus, Ovarian neoplasm	ORPHA:65285
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin...	OMIM:616546
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Cryptorchidism, Hydrocephalus, Supernumerary nipple	OMIM:619951
Joubert Syndrome With Ocular Defect	Molar tooth sign on MRI, Encephalocele, Hydrocephalus	ORPHA:220493
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Rabin-Pappas Syndrome	Hypoplasia of the pons, Hydrocephalus, Retinal telangiectasia	OMIM:620155
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormal brainstem morphology	ORPHA:2720
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension	OMIM:616482
Genitopalatocardiac Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2075
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo...	ORPHA:95494
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Lowry-Maclean Syndrome	Bilateral cryptorchidism, Hydrocephalus	ORPHA:2409
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Hypertension	ORPHA:1555
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly	OMIM:613603
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly	ORPHA:1335
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p...	ORPHA:2495
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Dandy-Walker malform...	OMIM:614643
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Hypertension	OMIM:616914
Apert Syndrome	Hypertension, Hydrocephalus, Ventriculomegaly, Ovarian neoplasm	ORPHA:87
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus	ORPHA:1865
Mirage Syndrome	Intracranial hemorrhage, Cryptorchidism, Hydrocephalus, Decreased testicular size	OMIM:617053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly	OMIM:613150
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, Abnormal spinal cord morphology	ORPHA:139396
Acute Disseminated Encephalomyelitis	Abnormal cerebellum morphology, Abnormal spinal cord morphology, Myelitis	ORPHA:83597
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block, Hydrocephalus	OMIM:618590
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr...	ORPHA:25
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Normal pressure hydrocephalus, Bradycardia	OMIM:620351
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Hydrocephalus, Cardiomyopathy, Arrhythmia, Ventriculomegaly	ORPHA:228308
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Gaucher Disease, Type Iiic	Hydrocephalus, Mitral stenosis	OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, H...	OMIM:236670
Superficial Siderosis	Cerebellar atrophy, Enlarged sylvian cistern, Atrophy of the spinal cord, Abnormal spinal cord mo...	ORPHA:247245
Pseudotrisomy 13 Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly	OMIM:264480
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Hydrocephalus	OMIM:309900
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Telangiectasia of the skin, Decreased response to growth hormone stimulation test	OMIM:616007
Distal Triplication 15Q	Hydrocele testis, Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo...	ORPHA:90695
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros...	ORPHA:2356
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:610829
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Hydrocephalus, Cervical myelopathy, Cardiomyopathy, Mitral regurgitation...	OMIM:253200
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:3301
Mosaic Variegated Aneuploidy Syndrome 1	Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Dandy-Walker malformation, Ventriculomegaly	OMIM:257300
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology	ORPHA:88628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Juvenile Amyotrophic Lateral Sclerosis	Abnormal cerebellum morphology, Amyotrophic lateral sclerosis	ORPHA:300605
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Hydrocephalus, Arrhythmia	ORPHA:157
Achondroplasia	Hydrocephalus	ORPHA:15
Hurler Syndrome	Aortic regurgitation, Cardiomyopathy, Hydrocephalus, Mitral regurgitation	OMIM:607014
Hypoplasminogenemia	Hydrocephalus, Abnormality of the ovary, Dandy-Walker malformation	ORPHA:722
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Stankiewicz-Isidor Syndrome	Cryptorchidism, Pineal cyst	OMIM:617516
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Absent nipple	OMIM:104350
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Hypoplasia of the brainstem, Ho...	OMIM:610828
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
15Q Overgrowth Syndrome	Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Da...	ORPHA:314585
H Syndrome	Hydrocephalus, Abnormal cardiovascular system physiology, Decreased testicular size, Facial telan...	ORPHA:168569
Ane Syndrome	Motor neuron atrophy	ORPHA:157954
Lateral Meningocele Syndrome	Cryptorchidism, Hydrocephalus, Meningocele	OMIM:130720
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hydrocephalus, Ventriculomegaly	OMIM:123790
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hydrocephalus, Mitral regurgitati...	ORPHA:505248
Holoprosencephaly	Encephalocele, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Arrhythmia, A...	ORPHA:2162
Limb Body Wall Complex	Encephalocele, Spina bifida, Abnormal spinal cord morphology, Myelomeningocele, Hydrocephalus, An...	ORPHA:2369
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Hydrocephalus, Spina bifida	OMIM:613776
Endocrine-Cerebroosteodysplasia	Cryptorchidism, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Portal hypertension	ORPHA:1454
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
Hurler Syndrome	Cardiomyopathy, Hydrocephalus, Hypertension, Angina pectoris	ORPHA:93473
Sturge-Weber Syndrome	Conjunctival telangiectasia, Hydrocephalus, Pulmonary embolism	ORPHA:3205
Mucopolysaccharidosis Type 1	Hypertrophic cardiomyopathy, Hydrocephalus, Congestive heart failure	ORPHA:579
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormone challenge,...	OMIM:101800
Desmosterolosis	Hydrocephalus, Ventriculomegaly	ORPHA:35107
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Thyroid hypoplasia	ORPHA:2166
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardiomyopathy, Arrhythmia	OMIM:309801
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus	ORPHA:616
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Abnormality of the pineal gland	ORPHA:369950
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Posterior pituitary hypoplasia	OMIM:613986
Coccidioidomycosis	Pericarditis, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis, Vasospasm...	ORPHA:228123
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Anterior pituitary agenesis	OMIM:620303
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Hydrocephalus	OMIM:253220
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Cardiofaciocutaneous Syndrome	Hypertrophic cardiomyopathy, Cryptorchidism, Hydrocephalus, Pulmonic stenosis	ORPHA:1340
Achondroplasia	Brain stem compression, Hydrocephalus	OMIM:100800
Cardiofaciocutaneous Syndrome 1	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	OMIM:115150
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Hypoplasia of the brainstem, Normal pressure hydrocephalus, Lateral ventricle dilatation	ORPHA:300570
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Hydrocephalus	OMIM:618162
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ovarian cyst, Hyperparathyroidism, Ventriculomegaly	OMIM:618188
Congenital Disorder Of Glycosylation, Type Iit	Pineal cyst	OMIM:618885
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy	OMIM:616084
Adrenomyeloneuropathy	Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology	ORPHA:139399
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Holoprosencephaly, Anencephaly, Hypoplastic nipples	OMIM:269860
Aymé-Gripp Syndrome	Pericarditis, Cryptorchidism, Hydrocephalus, Breast hypoplasia, Ventriculomegaly	ORPHA:1272
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Desmosterolosis	Hydrocephalus, Ventriculomegaly	OMIM:602398
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Isotretinoin-Like Syndrome	Hydrocephalus, Aortic valve stenosis	ORPHA:2306
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Hydrocephalus, Heart murmur, Intracranial hemorrhage	ORPHA:163979
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Jacobsen Syndrome	Cryptorchidism, Annular pancreas, Hydrocephalus, Holoprosencephaly	OMIM:147791
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bifida, Cryptor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bifida, Cryptor...	ORPHA:363958
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis	ORPHA:600
Pituitary Stalk Interruption Syndrome	Cryptorchidism, Ectopic posterior pituitary	ORPHA:95496
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Ventriculomegaly	OMIM:259720
Marshall-Smith Syndrome	Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Premature ventricular contraction, Hyper...	OMIM:602535
Monosomy 9Q22.3	Hydrocephalus, Ovarian fibroma, Ventriculomegaly	ORPHA:77301
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:250989
Meckel Syndrome	Encephalocele, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Hydrocephalus, Anencephaly,...	ORPHA:564
7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Ventriculomegaly	ORPHA:96121
Mohr Syndrome	Hydrocephalus	OMIM:252100
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus	OMIM:182212
Trisomy 8P	Cryptorchidism, Hydrocephalus, Heart murmur, Aplasia/Hypoplasia of the gallbladder, Annular pancr...	ORPHA:264450
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary arteria...	ORPHA:79282
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Adrenal hyperplasia, Elevated circulating luteinizing hormone level, Enlarged polycystic ovaries,...	ORPHA:95699
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Dubowitz Syndrome	Hypoparathyroidism, Cryptorchidism, Hydrocephalus, Spina bifida occulta	ORPHA:235
Amoebiasis Due To Free-Living Amoebae	Abnormal pons morphology, Abnormal spinal cord morphology, Abnormal medulla oblongata morphology,...	ORPHA:68
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus	ORPHA:90652
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Cryptorchidism, Mitral regurgitation, Ventriculomegaly	ORPHA:2462
Apert Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:101200
Basal Cell Nevus Syndrome 1	Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida	OMIM:109400
Orofaciodigital Syndrome I	Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cyst, Hypertension	OMIM:311200
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion	ORPHA:69665
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly, Olivopontocerebellar hypoplasia	ORPHA:457284
Opitz-Kaveggia Syndrome	Cryptorchidism, Hydrocephalus	OMIM:305450
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Hydrocephalu...	OMIM:249000
Mend Syndrome	Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation	ORPHA:401973
Mucopolysaccharidosis Type 3	Hydrocephalus, Reduced left ventricular ejection fraction, Atrioventricular block, Ventriculomegaly	ORPHA:581
Mend Syndrome	Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation	OMIM:300960
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo...	ORPHA:93924
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Stromme Syndrome	Hydrocephalus	OMIM:243605
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Tuberous Sclerosis Complex	Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocephalus, Hypertension, Pheochr...	ORPHA:805
Microphthalmia, Syndromic 5	Cryptorchidism, Ectopic posterior pituitary	OMIM:610125
Rabson-Mendenhall Syndrome	Cardiomyopathy, Enlarged ovaries, Increased pineal volume	ORPHA:769
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Mycophenolate Mofetil Embryopathy	Hydrocephalus	ORPHA:268249
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Gastrointestinal hemorrhage, Spina bifida, Cryptorchidism, Hydrocephalus, Men...	ORPHA:567
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Heart murmur, Pineal cyst,...	OMIM:615873
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Fanconi Anemia, Complementation Group D2	Cryptorchidism, Annular pancreas, Hydrocephalus	OMIM:227646
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Raine Syndrome	Hydrocephalus	OMIM:259775
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Full Nf2-Related Schwannomatosis	Myelopathy, Brain stem compression, Hydrocephalus	ORPHA:637
Spondylodysplastic Ehlers-Danlos Syndrome	Cryptorchidism, Agenesis of pineal gland, Aortic valve stenosis, Pulmonic stenosis	ORPHA:536471
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Spina bifida occulta	OMIM:300373
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Hydrocephalus, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia,...	ORPHA:2556
Kabuki Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly	ORPHA:2322
Fanconi Anemia	Spina bifida, Cryptorchidism, Hydrocephalus, Hypertrophic cardiomyopathy, Abnormal testis morphol...	ORPHA:84
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Decreased response to growth hormone stimulation test, Pulmonic stenosis, ...	ORPHA:529962
Smith-Lemli-Opitz Syndrome	Cryptorchidism, Hydrocephalus, Hypertension, Colpocephaly, Holoprosencephaly, Hypertrophic cardio...	OMIM:270400
Hajdu-Cheney Syndrome	Hydrocephalus, Mitral stenosis, Aortic valve stenosis	ORPHA:955
Distal 22Q11.2 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Tricuspid regurgitation	ORPHA:261337
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Congestive heart failure, Hydrocephalus, Heart murmur, Decreased CSF 5-meth...	OMIM:619475
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Hydrocephalus, Pulmonary arterial hypertension, Cholelithiasis,...	ORPHA:2072
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Hydrocephalus	ORPHA:538
Oculoectodermal Syndrome	Hypertrophic cardiomyopathy, Transient ischemic attack, Supernumerary nipple, Pineal cyst	OMIM:600268
Tetraamelia Syndrome 1	Adrenal gland agenesis, Hydrocephalus	OMIM:273395
Craniosynostosis 4	Ectopic posterior pituitary	OMIM:600775
Cryptococcosis	Hydrocephalus	ORPHA:1546
Hajdu-Cheney Syndrome	Cryptorchidism, Hydrocephalus	OMIM:102500
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Mitral regurgitation, Aortic regurgitation	ORPHA:309282
Osteogenesis Imperfecta	Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephalus, Brain s...	ORPHA:666
Cockayne Syndrome A	Cryptorchidism, Hypertension, Normal pressure hydrocephalus, Arrhythmia, Ventriculomegaly	OMIM:216400
Mosaic Trisomy 20	Cryptorchidism, Abnormal spinal cord morphology	ORPHA:1724
Costello Syndrome	Hydrocephalus, Pulmonic stenosis, Arrhythmia, Hypertrophic cardiomyopathy, Ventriculomegaly	OMIM:218040
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Marden-Walker Syndrome	Hydrocephalus	ORPHA:2461
Lenz-Majewski Hyperostotic Dwarfism	Cryptorchidism, Hydrocephalus	ORPHA:2658
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Absent nipple, Cryptorchidism, Hydrocephalus, Hypoplastic nipples, Pulmo...	OMIM:612289
Neurofibromatosis Type 1	Cryptorchidism, Hydrocephalus, Pheochromocytoma, Hypertension	ORPHA:636
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Hydrocephalus	ORPHA:667
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Hypoplasia of the ovary, Decreased testicular size	OMIM:619321
Tetrasomy 9P	Absent gallbladder, Pericarditis, Raynaud phenomenon, Cryptorchidism, Hydrocephalus, Pulmonary ar...	ORPHA:3310
Neutral Lipid Storage Myopathy	Cardiomyopathy, Congestive heart failure, Pineal cyst	ORPHA:98908
Cockayne Syndrome B	Cryptorchidism, Arrhythmia, Normal pressure hydrocephalus, Hypertension	OMIM:133540
Gaucher Disease	Pulmonary arterial hypertension, Hydrocephalus, Ventriculomegaly	ORPHA:355
Pseudoaminopterin Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:221120
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus	ORPHA:1106
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Yunis-Varon Syndrome	Cryptorchidism, Hydrocephalus, Renovascular hypertension, Hypertension, Cardiomyopathy, Pulmonary...	ORPHA:3472
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Hydrocephalus, Hypertension, Lateral ventricle dilatation, Colpocephaly	OMIM:210710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly	OMIM:253280
Oeis Complex	Cryptorchidism, Myelomeningocele, Hydrocephalus	OMIM:258040
Fraser Syndrome 1	Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus	OMIM:219000
Peters Plus Syndrome	Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Anterior hypopituitarism, Spina bifida occulta,...	ORPHA:709
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Epistaxis, Anterior pituitary hypoplasia, Cryptorchidism, Mild fetal...	OMIM:619841
Focal Dermal Hypoplasia	Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myelomeningocele, Telangiectasia, Hypoplasti...	OMIM:305600
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Hypertension	ORPHA:580
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventriculomegaly, Pineal cyst	ORPHA:513456
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hypertrophic cardiomyopathy, Hydrocephalus, Mitral regurgitation, Pulmonic stenosis	ORPHA:363700
Primary Sjögren Syndrome	Abnormal cerebellum morphology, Abnormal spinal cord morphology	ORPHA:289390
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus	ORPHA:3042
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Axillary apocrine gland hypoplasia, H...	OMIM:181450
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, Hydrocephalus	OMIM:208150
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Cryptorchidism, Hydrocephalus, Dilated cardiomyopathy, Lateral vent...	OMIM:607872
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hydrocephalus, Hypoplasia of the thymus, Dandy-Walker malformation	OMIM:264090
Wolf-Hirschhorn Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:194190
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebral hemorrhage, Hydrocephalus, Retinal hemorrhage, Ischemic stroke, Corneal neovascularization	OMIM:175780
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Hydrocephalus, Pulmonic st...	ORPHA:3455
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Cryptorchidism, Left ventricular noncompaction cardiomyopathy, Pineal cyst	OMIM:300967
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary	ORPHA:98889
Hydrolethalus Syndrome 1	Dandy-Walker malformation, Anencephaly, Adrenal gland dysgenesis, Severe hydrocephalus	OMIM:236680
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ectopic posterior pituitary, Spina bifida occulta	ORPHA:508488
Kabuki Syndrome 1	Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta	OMIM:218600
Simpson-Golabi-Behmel Syndrome, Type 1	Supernumerary nipple, Cryptorchidism, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Arrhythmia	OMIM:312870
Coffin-Siris Syndrome 12	Cryptorchidism, Noncommunicating hydrocephalus, Heart murmur	OMIM:619325
Peters-Plus Syndrome	Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Ventriculomegaly	OMIM:261540
Exstrophy-Epispadias Complex	Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:322
Otopalatodigital Syndrome, Type Ii	Cryptorchidism, Hydrocephalus, Spina bifida	OMIM:304120
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Townes-Brocks Syndrome 1	Cryptorchidism, Hydrocephalus, Holoprosencephaly	OMIM:107480
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 Rfx4

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 Rfx4.

No publications found that use IMPC mice or data for Rfx4.

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
Rfx4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rfx4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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