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Gene: Rpl31 MGI:2149632

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ribosomal protein L31

Synonyms:

Dts

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 Rpl31 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 Rpl31 (1 diseases)
Human diseases predicted to be associated with Rpl31 (461 diseases)

The table below shows human diseases associated to Rpl31 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Diamond-Blackfan Anemia		Hypospadias	ORPHA:124

The table below shows human diseases predicted to be associated to Rpl31 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus	OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias	ORPHA:250994
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus	OMIM:258320
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Biemond Syndrome Type 2	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias	ORPHA:141333
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism	OMIM:601794
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Precocious puberty in males	ORPHA:649929
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism	ORPHA:2183
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Diencephalic Syndrome	Hydrocephalus, Long penis	ORPHA:1672
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly	OMIM:618577
Fried Syndrome	Hydrocephalus	ORPHA:85335
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep...	ORPHA:8
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Temple Syndrome	Precocious puberty, Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulati...	ORPHA:254516
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly	OMIM:218350
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly	OMIM:175700
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cryptorchidism, Micropenis, Hypospadias, Hydrocephalus	ORPHA:171839
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus	ORPHA:1237
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Temple Syndrome	Precocious puberty, Cryptorchidism, Hydrocephalus, Decreased testicular size	OMIM:616222
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus	ORPHA:2701
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Williams-Beuren Region Duplication Syndrome	Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom...	OMIM:609757
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Bresek Syndrome	Cryptorchidism, Hydrocephalus, Decreased testicular size	ORPHA:85284
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly	ORPHA:77298
Triploidy	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ...	ORPHA:3376
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Bile duct proliferation, Dandy-Walker malformation	OMIM:607361
Optic Pathway Glioma	Precocious puberty, Hydrocephalus	ORPHA:2086
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Pallister-Hall-Like Syndrome	Occipital encephalocele, Micropenis, Anterior hypopituitarism, Hydrocephalus	OMIM:241800
Diabetic Embryopathy	Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter...	ORPHA:1926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Dandy-Walker mal...	OMIM:611134
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Gorlin Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:377
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology	ORPHA:2189
Genitopalatocardiac Syndrome	Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dysgenesis, male	ORPHA:2075
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Hydrocephalus	ORPHA:31
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Hypospadias, Decreased response to growth hormone stimulation test, Dandy-Walker m...	OMIM:220210
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Hypospadias	OMIM:601499
Trisomy 1Q	Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Ventriculomegaly	ORPHA:261344
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:616362
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Pontocerebellar Hypoplasia, Type 7	Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly	OMIM:614969
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Emanuel Syndrome	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Micropenis, Dandy-Walker malformation	OMIM:609029
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:370959
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Shawl s...	OMIM:617053
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Emanuel Syndrome	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Micropenis, Dandy-Wal...	ORPHA:96170
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Ventriculomegaly	ORPHA:1812
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Arachnoiditis	Hydrocephalus	ORPHA:137817
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectovaginal fistula, Perineal fistula	ORPHA:3016
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Walker-Warburg Syndrome	Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	ORPHA:899
Crouzon Syndrome	Hydrocephalus	ORPHA:207
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Cryptorchidism, Micropenis, Hydrocephalus, Supernumerary nipple	OMIM:619951
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Small scrotum, Hydrocephalus, Micropenis, Dandy-Walker malformation	OMIM:617822
Pseudotrisomy 13 Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosencephaly, Micropenis	OMIM:264480
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Sex reversal, Microphallus, Holoprosen...	OMIM:612651
Meckel Syndrome, Type 6	Abnormal internal genitalia, Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anenceph...	OMIM:612284
3C Syndrome	Hypoplasia of penis, Ventriculomegaly, Hypospadias, Hydrocephalus, Dandy-Walker malformation	ORPHA:7
Lowry-Maclean Syndrome	Bilateral cryptorchidism, Hydrocephalus, Hypospadias	ORPHA:2409
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Bifid uterus	ORPHA:2736
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate	ORPHA:90065
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Hydrocephalus, Abnormality of the parathyroid gl...	ORPHA:2969
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Micropenis, Ventriculomegaly	OMIM:300514
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Czeizel-Losonci Syndrome	Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta	ORPHA:2437
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormality of the male genitalia, Cholelithiasis, Hydrocephalus	OMIM:614886
Rhombencephalosynapsis	Hydrocephalus, Abnormality of the uterus, Ventriculomegaly	ORPHA:59315
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, Ambiguous genitalia,...	OMIM:257300
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Hydrocephalus, Vaginal atresia	ORPHA:3301
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly	OMIM:614576
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe	ORPHA:1555
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Distal Triplication 15Q	Hydrocele testis, Hydrocephalus, Abnormal external genitalia, Dandy-Walker malformation	ORPHA:314588
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Hydrocephalus, Abnormal sperm motility, Ventriculomegaly	ORPHA:244
Fg Syndrome Type 1	Hypospadias, Cryptorchidism, Hydrocephalus, Small pituitary gland, Ventriculomegaly	ORPHA:93932
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus	ORPHA:1865
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly	ORPHA:2169
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa...	ORPHA:722
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly...	ORPHA:2166
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology	ORPHA:3412
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Gracile Bone Dysplasia	Micropenis, Hydrocephalus	OMIM:602361
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida	ORPHA:2839
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Trisomy 17P	Hypoplasia of penis, Hydrocephalus	ORPHA:261290
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Hydrocephalus, Ventriculomegaly	OMIM:613603
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
H Syndrome	Hydrocephalus, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size, Amenorrhea	ORPHA:168569
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Abnormal morphology of female internal genitalia	ORPHA:1834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye...	OMIM:258040
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Hydrocephalus, Anencephaly	ORPHA:1335
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar...	ORPHA:91350
Lateral Meningocele Syndrome	Cryptorchidism, Hydrocephalus, Meningocele	OMIM:130720
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora	OMIM:207410
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Lhermitte-Duclos Disease	Hydrocephalus, Ovarian neoplasm	ORPHA:65285
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, H...	OMIM:236670
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Ven...	OMIM:123790
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Hydrocephalus, Spina bifida	OMIM:613776
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Hydrocephalus, Irregular menstruation, Hypogonadism, Decreased growth hormone res...	OMIM:101800
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, Labial hypopl...	OMIM:147791
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa...	ORPHA:95699
Meckel Syndrome	Encephalocele, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male ...	ORPHA:564
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Hypoplastic male external genitalia	OMIM:608091
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Uterine leiomyoma, Irregular menstruation, Hydrocephalus	OMIM:616482
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus	ORPHA:2318
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus, Hypospadias	OMIM:313850
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni...	OMIM:309801
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus	ORPHA:220497
Monosomy 18Q	Bilateral cryptorchidism, Micropenis, Hydrocephalus, Secondary growth hormone deficiency	ORPHA:1600
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Desmosterolosis	Ambiguous genitalia, Hydrocephalus, Ventriculomegaly	ORPHA:35107
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Desmosterolosis	Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Ventriculomegaly	OMIM:602398
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Ventriculomegaly	OMIM:616546
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Ciliary Dyskinesia, Primary, 1	Male infertility, Absent outer dynein arms, Communicating hydrocephalus	OMIM:244400
Whipple Disease	Hydrocephalus, Erectile dysfunction	ORPHA:3452
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus	ORPHA:220493
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Ovarian neoplasm	ORPHA:87
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Achondroplasia	Hydrocephalus	ORPHA:15
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:253800
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Dextrocardia	Abnormal reproductive system morphology, Hydrocephalus, Pancreatic hypoplasia	ORPHA:1666
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Holoprosenc...	ORPHA:2162
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:250989
7Q11.23 Microduplication Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the fallopian tube, Ventriculom...	ORPHA:96121
Fanconi Anemia	Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydrocephalus, Azoosper...	ORPHA:84
Fraser Syndrome 3	Hypoplasia of penis, Small scrotum, Hydrocephalus	OMIM:617667
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker malformation, Ven...	OMIM:605627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Apert Syndrome	Cryptorchidism, Hydrocephalus, Vaginal atresia, Ventriculomegaly	OMIM:101200
Dubowitz Syndrome	Hypoparathyroidism, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormality of female external ge...	ORPHA:235
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:610829
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly, Hypoplastic nipples, Ambiguous genitalia	OMIM:269860
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus	OMIM:182212
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr...	ORPHA:54595
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Cardiofaciocutaneous Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:1340
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,...	OMIM:249000
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Opitz-Kaveggia Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias	OMIM:305450
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male	OMIM:260660
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Coccidioidomycosis	Abnormal sperm morphology, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal...	ORPHA:228123
Exstrophy-Epispadias Complex	Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra...	ORPHA:322
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Neurooculorenal Syndrome	Ectopic posterior pituitary, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:620305
Mucopolysaccharidosis, Type Ii	Hydrocephalus	OMIM:309900
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Absent nipple	OMIM:104350
Aymé-Gripp Syndrome	Cryptorchidism, Hydrocephalus, Breast hypoplasia, Ventriculomegaly	ORPHA:1272
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Annular pancreas, Micropenis	OMIM:227646
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Hydrocephalus, Micropenis	ORPHA:163979
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Decreased response to growth hormone stimulation test	OMIM:616007
Kabuki Syndrome	Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Ventriculome...	ORPHA:2322
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hypospadias, Hydrocephalus	ORPHA:90652
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Cryptorchidism, Hydrocephalus	OMIM:619512
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ...	ORPHA:2658
Alexander Disease	Precocious puberty, Hydrocephalus, Aqueductal stenosis	ORPHA:58
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus	ORPHA:300570
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ovarian cyst, Hyperparathyroidism, Ventriculomegaly	OMIM:618188
Marshall-Smith Syndrome	Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:602535
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Cardiofaciocutaneous Syndrome 1	Hydrocephalus	OMIM:115150
Trisomy 8P	Cryptorchidism, Hydrocephalus, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Micropeni...	ORPHA:264450
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Monosomy 9Q22.3	Hydrocephalus, Ovarian fibroma, Ventriculomegaly	ORPHA:77301
Hurler Syndrome	Hydrocephalus	OMIM:607014
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Hy...	OMIM:270400
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Hydrocephalus	OMIM:618162
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Ventriculomegaly	OMIM:259720
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly	ORPHA:2462
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Aplasia of the vagina, Ventriculomegaly, Aplasia of the uterus	ORPHA:457284
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Basal Cell Nevus Syndrome 1	Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida	OMIM:109400
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bi...	ORPHA:363958
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Mend Syndrome	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Mend Syndrome	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Achondroplasia	Hydrocephalus	OMIM:100800
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Thakker-Donnai Syndrome	Communicating hydrocephalus, Rectovaginal fistula	ORPHA:1780
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Mohr Syndrome	Hydrocephalus	OMIM:252100
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Hydrocephalus, Ab...	ORPHA:2556
Fanconi Anemia, Complementation Group L	Micropenis, Hydrocephalus, Aplasia of the uterus	OMIM:614083
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Micropenis, Hypoplasia of the ovary, Decreased testicular size	OMIM:619321
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid adenoma	OMIM:162200
Hajdu-Cheney Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias	OMIM:102500
Mucopolysaccharidosis Type 1	Hydrocephalus	ORPHA:579
Medulloblastoma	Hydrocephalus	ORPHA:616
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Fraser Syndrome 1	Encephalocele, Hypospadias, Cryptorchidism, Myelomeningocele, Hydrocephalus, Bicornuate uterus, M...	OMIM:219000
Meningioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Reduced circulating prolactin concentrat...	ORPHA:2495
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipi...	ORPHA:567
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Hurler Syndrome	Hydrocephalus	ORPHA:93473
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Adrenal gland agenesi...	OMIM:273395
Orofaciodigital Syndrome I	Pancreatic cysts, Ovarian cyst, Myelomeningocele, Hydrocephalus	OMIM:311200
Marden-Walker Syndrome	Abnormal penis morphology, Epispadias, Hydrocephalus, Hypospadias	ORPHA:2461
Cryptococcosis	Hydrocephalus, Prostatitis	ORPHA:1546
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Stromme Syndrome	Hydrocephalus	OMIM:243605
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Mucopolysaccharidosis Type 3	Hydrocephalus, Ventriculomegaly	ORPHA:581
Raine Syndrome	Hydrocephalus	OMIM:259775
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus	ORPHA:505248
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Bicornuate uterus	OMIM:154400
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Spina bifida occulta	OMIM:300373
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Mycophenolate Mofetil Embryopathy	Hydrocephalus	ORPHA:268249
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Hypospadias, Hydrocephalus, Micropenis, Decreased CSF 5-methyltetrahydrofolate con...	OMIM:619475
Distal 22Q11.2 Microduplication Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:261337
Cockayne Syndrome A	Cryptorchidism, Irregular menstruation, Normal pressure hydrocephalus, Hypogonadism, Micropenis, ...	OMIM:216400
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Histiocytoid Cardiomyopathy	Hydrocephalus, Polycystic ovaries	ORPHA:137675
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus	ORPHA:1106
Pseudoaminopterin Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:221120
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus, Hypogonadism	ORPHA:3042
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Hypoplasti...	OMIM:612289
Hajdu-Cheney Syndrome	Hydrocephalus, Hypospadias	ORPHA:955
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Azoospermia, Hydrocephalus, Cholelithiasis, Ventriculomegaly	ORPHA:2072
Campomelic Dysplasia	Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal	OMIM:114290
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Hydrocephalus, Oligozoospermia, Infertility, Micropenis, Dand...	ORPHA:3310
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Lymphangioleiomyomatosis	Hydrocephalus, Abnormal morphology of female internal genitalia	ORPHA:538
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Colpocephaly, Micropenis	OMIM:210710
Wolf-Hirschhorn Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uterus, Ventriculo...	OMIM:194190
Neurofibromatosis Type 1	Precocious puberty, Cryptorchidism, Hydrocephalus, Pheochromocytoma	ORPHA:636
Yunis-Varon Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Micropenis, Clitoral hypert...	ORPHA:3472
Cockayne Syndrome B	Cryptorchidism, Micropenis, Normal pressure hydrocephalus	OMIM:133540
Focal Dermal Hypoplasia	Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Hypop...	OMIM:305600
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Hydrocephalus	OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Peters Plus Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplasia of the uterus, Clitoral hypoplasia, Anteri...	ORPHA:709
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Mild fet...	OMIM:619841
Kabuki Syndrome 1	Premature thelarche, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Anoperineal fis...	OMIM:147920
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, Hydrocephalus	OMIM:208150
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Hypoplasia of the thymus, Dandy-Walker ma...	OMIM:264090
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Micropenis, Ventriculomegaly	ORPHA:457359
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R...	OMIM:107480
Split Cord Malformation	Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep...	ORPHA:573278
Osteogenesis Imperfecta	Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly	ORPHA:666
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus	ORPHA:309282
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Hypop...	OMIM:261540
Chromosome 1P36 Deletion Syndrome, Distal	Abnormal external genitalia, Hypospadias, Cryptorchidism, Hydrocephalus, Lateral ventricle dilata...	OMIM:607872
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Panhypopituitarism, Decreased response to growth hormone stimu...	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Panhypopituitarism, Decreased response to growth hormone stimu...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Panhypopituitarism, Decreased response to growth hormone stimu...	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Panhypopituitarism, Decreased response to growth hormone stimu...	ORPHA:93924
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Tuberous Sclerosis Complex	Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocephalus, Pheochromocytoma, Sub...	ORPHA:805
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Anencephaly, Severe hydrocephalus, Adrenal gland dysgenesis, Abnormal ...	OMIM:236680
Costello Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:218040
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:3455
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta, Rectovaginal fistula, Perineal fistula	OMIM:218600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Otopalatodigital Syndrome, Type Ii	Cryptorchidism, Hydrocephalus, Hypospadias, Spina bifida	OMIM:304120
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Cryptorchidism, Hydrocephalus, Long penis, Frontal encephaloc...	OMIM:268300
Coffin-Siris Syndrome 12	Cryptorchidism, Hypospadias, Noncommunicating hydrocephalus	OMIM:619325
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Simpson-Golabi-Behmel Syndrome, Type 1	Cryptorchidism, Hydrocephalus, Hypospadias, Supernumerary nipple	OMIM:312870
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, ...	OMIM:619534
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus	OMIM:164210
Diamond-Blackfan Anemia	Hypospadias	ORPHA:124

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 Rpl31

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 Rpl31.

No publications found that use IMPC mice or data for Rpl31.

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
Rpl31^{tm209799(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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