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Gene: Plxnb2 MGI:2154239

Gene Summary

Name:

plexin B2

Synonyms:

1110007H23Rik, Debt

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal response to tactile stimuli	Plxnb2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.38×10^-06
increased IgE level	Plxnb2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.92×10^-06
abnormal urination	Plxnb2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	8.57×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

Plxnb2^{tm1a(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

Plxnb2^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

Plxnb2^{tm1a(EUCOMM)Wtsi}
head, HET, Female, WTSI

Plxnb2^{tm1a(EUCOMM)Wtsi}
forearm, HET, Female, WTSI

Plxnb2^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

View all 86 images

Plxnb2^{tm1a(EUCOMM)Wtsi}
eye, cataracts, fused cornea and lens, corneal opacity, HET, Female, WTSI

Plxnb2^{tm1a(EUCOMM)Wtsi}
eye, corneal opacity, cataracts, fused cornea and lens, HET, Female, WTSI

Plxnb2^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Human diseases caused by Plxnb2 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 Plxnb2 (0 diseases)
Human diseases predicted to be associated with Plxnb2 (791 diseases)

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

The table below shows human diseases predicted to be associated to Plxnb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Book Syndrome	Premature graying of hair	OMIM:112300
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Spina Bifida-Hypospadias Syndrome	Hypospadias, Spina bifida, Spinal dysraphism	ORPHA:3176
Microcephaly 12, Primary, Autosomal Recessive	Simplified gyral pattern	OMIM:616080
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Abnormal cerebellum morphology, Simplified gyral pattern, Abnormal neuron morphology	ORPHA:329228
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Gray matter heterotopi...	OMIM:611603
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Pach...	OMIM:607432
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Periventricular nodular heterotopia, Optic atrophy, Cerebellar hypoplasia	OMIM:618572
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia, Cerebellar vermis atrophy	OMIM:618185
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus ...	OMIM:614019
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter...	ORPHA:1083
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Myelomen...	ORPHA:1756
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:171703
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Partial agenesis of the corpus callosum,...	OMIM:610031
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Lissencephaly, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia	OMIM:618677
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Gray matter heterot...	ORPHA:352682
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pon...	OMIM:613153
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Syringom...	OMIM:207950
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk...	OMIM:618944
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Ren...	OMIM:236500
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ...	ORPHA:300573
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Periventricular heterotopia, Hypoplasia of the pons, Parti...	OMIM:616171
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Joubert Syndrome 15	Micropenis, Exencephaly, Nephronophthisis	OMIM:614464
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:300067
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi...	OMIM:615191
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth, Renal hypoplasia	OMIM:276950
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis	OMIM:617564
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar h...	OMIM:615181
Bresek Syndrome	Hypoplasia of the bladder, Hydrocephalus, Renal hypoplasia, Neonatal death, Vesicoureteral reflux...	ORPHA:85284
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif...	OMIM:616212
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of corpus callos...	OMIM:616342
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Duplication of renal pelvis, Ureteral duplication	ORPHA:457212
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissencephaly, Cerebe...	ORPHA:1528
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Facial diplegia, Gray matter heterotopia, Pachygyria, Cerebellar cyst	ORPHA:370980
Kimura Disease	Increased circulating IgE level	ORPHA:482
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dyspl...	OMIM:616531
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Schisis Association	Encephalocele, Anencephaly, Renal agenesis, Spina bifida	ORPHA:63862
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level	OMIM:618982
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Abnormality of the urinary syst...	ORPHA:2437
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le...	ORPHA:98813
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Hypospadias, Hydrocephalus, Renal hypoplasia, Umbilical hernia, Micropenis	ORPHA:171839
Amish Lethal Microcephaly	Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Spina bifida	ORPHA:99742
Leber Congenital Amaurosis	Encephalocele, Abnormal optic disc morphology, Abnormality of neuronal migration, Aplasia/Hypopla...	ORPHA:65
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Agenesis of ...	OMIM:218670
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Simplified gyral pattern, Gliosis, Cerebellar hemisphere hypoplasia, Agenesis...	OMIM:615095
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia	OMIM:615996
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome...	ORPHA:93929
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Tethered cord, Renal hypoplasia, Spinal dysraphism	OMIM:612918
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Tethered cord, Renal hypoplasia, Spinal dysraphism	OMIM:617660
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Lumbar Syndrome	Renal agenesis, Hypospadias, Spina bifida, Myelomeningocele, Vesicoureteral reflux, Micropenis, B...	ORPHA:83628
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Severe Combined Immunodeficiency, X-Linked	Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea...	OMIM:300400
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Holoprosencephaly, Unilateral renal agenesis	ORPHA:141099
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil...	OMIM:614922
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Hydrocephalus, Spinal dysraphism, Micropenis, Hyd...	ORPHA:1926
Isolated Klippel-Feil Syndrome	Spina bifida, Renal hypoplasia/aplasia	ORPHA:2345
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration	OMIM:618709
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder	OMIM:601389
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death in childhood	OMIM:604273
Bardet-Biedl Syndrome 3	Renal hypoplasia	OMIM:600151
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Facial palsy, Cerebellar hypoplasia, Abnormality of neuronal migration	OMIM:608840
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Optic ne...	ORPHA:370959
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Joubert Syndrome 30	Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma...	OMIM:617622
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl...	ORPHA:1908
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Dysplastic corpus callosum, Lissencephaly, Polymicrog...	OMIM:614833
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Facial palsy, Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysp...	OMIM:613155
Obesity And Hypopigmentation	Red hair	OMIM:620195
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Verheij Syndrome	Branchial cyst, Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bil...	ORPHA:2260
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function	ORPHA:277
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Even-Plus Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Renal hypoplasia	OMIM:616854
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level	OMIM:212050
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Sirenomelia	Sirenomelia, Abnormality of the urinary system, Spina bifida, Renal hypoplasia/aplasia	ORPHA:3169
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Syringomyelia, Renal hypoplasia, Hydronephrosis	OMIM:613735
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Type II...	OMIM:614643
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Vesicoureteral reflux, Renal hypoplasia, Abnormal conus terminalis morphology	ORPHA:464288
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Hadziselimovic Syndrome	Renal hypoplasia	OMIM:612946
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Periventricular he...	OMIM:618273
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k...	ORPHA:322
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar ...	OMIM:617751
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Renal hypoplasia	ORPHA:2256
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Dandy-Walker malform...	OMIM:164180
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Agammaglobulinemia 8B, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o...	OMIM:619824
Orofaciodigital Syndrome Xvii	Micropenis, Renal hypoplasia	OMIM:617926
Neu-Laxova Syndrome 2	Ventriculomegaly, Cerebellar hypoplasia, Spina bifida	OMIM:616038
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Bilateral Frontoparietal Polymicrogyria	Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Cerebellar ...	ORPHA:101070
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating antibody...	ORPHA:449400
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Ventriculomegaly, Spina bifida	ORPHA:1120
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Spina bifida, Myelomeningocele, Meningocele, Hydr...	ORPHA:1393
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney	OMIM:212780
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia	OMIM:617914
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Renal hypoplasia, Umbilical hernia, Renal dysplasia	ORPHA:85321
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration	OMIM:300049
Neurocutaneous Melanocytosis	Meningocele, Chiari malformation, Syringomyelia, Aplasia/Hypoplasia of the cerebellum, Dandy-Walk...	ORPHA:2481
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Syr...	ORPHA:63259
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:619752
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Periventricular heterotopia	ORPHA:255138
Phakomatosis Pigmentokeratotica	Unilateral renal hypoplasia, Nephroblastoma, Spina bifida, Renal transitional cell carcinoma	ORPHA:2874
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Hydrocephalus, Renal cyst, Duplication of renal pelvis, Umbilical hernia, Nephroblas...	OMIM:312870
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Hydrocephalus, Optic atrophy, Abnormality of neuronal...	ORPHA:899
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Glomerulonephritis	OMIM:247800
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level	OMIM:618523
Burn-Mckeown Syndrome	Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ...	ORPHA:101030
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:169154
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walk...	OMIM:611134
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Hydronephrosis, Spina bifida	ORPHA:2839
Meckel Syndrome 12	Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia	OMIM:616258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Death in infancy, Encephalocele, Partial absence of cerebellar vermis, Hydr...	OMIM:613150
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:147060
Adams-Oliver Syndrome 6	Renal hypoplasia	OMIM:616589
Vici Syndrome	Death in infancy, Hypoplasia of the pons, Optic atrophy, Gray matter heterotopia, Cerebellar hypo...	ORPHA:1493
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Intellectual Developmental Disorder, X-Linked 12	Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Gliosis, Abnormality of neuronal mi...	OMIM:300957
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Hemimegalencephaly	Optic atrophy, Gray matter heterotopia, Gliosis, Pachygyria, Polymicrogyria, Abnormal neuron morp...	ORPHA:99802
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida	ORPHA:1327
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Unilateral renal hypoplasia	OMIM:619955
Mungan Syndrome	Vesicoureteral reflux, Renal hypoplasia	OMIM:611376
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter	ORPHA:3409
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM	OMIM:243700
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Hydrocephalus, Renal hypoplasia, Holoprosencephaly, Micropenis	OMIM:264480
Trisomy 20P	Hypospadias, Abnormality of the kidney, Spina bifida, Abnormality of the ureter, Abnormal localiz...	ORPHA:261318
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation	ORPHA:79476
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Umbilical hernia, Renal hypoplasia	OMIM:618914
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Diaphanospondylodysostosis	Myelomeningocele, Multiple renal cysts	ORPHA:66637
Cach Syndrome	Renal hypoplasia	ORPHA:135
Emanuel Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, M...	OMIM:609029
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia	OMIM:616817
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level	ORPHA:217390
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Isolated Posterior Meningocele	Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malfo...	ORPHA:268810
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Schizophrenia 1	Partially duplicated kidney, Renal agenesis, Ectopic kidney	OMIM:181510
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Umbilical hernia, Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration	ORPHA:2772
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Renal hypoplasia	ORPHA:254913
12Q14 Microdeletion Syndrome	Syringomyelia, Renal hypoplasia, Horseshoe kidney, Ectopic kidney	ORPHA:94063
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Unilateral renal agenesis	OMIM:601355
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Cerebellar hypoplasia	OMIM:617397
Fanconi Anemia, Complementation Group I	Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney	OMIM:609053
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Netherton Syndrome	Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Aminoacidu...	ORPHA:634
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena...	OMIM:146510
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl...	ORPHA:991
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Optic disc pallor, Cerebellar hypoplasia, Death in infancy	OMIM:613730
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration	ORPHA:2518
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ...	ORPHA:370022
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Acromelic Frontonasal Dysplasia	Encephalocele, Anterior pituitary hypoplasia, Meningocele, Retrocerebellar cyst, Hypopituitarism,...	ORPHA:1827
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Split Cord Malformation	Neurogenic bladder, Tethered cord, Hypospadias, Urinary incontinence, Detrusor sphincter dyssyner...	ORPHA:573278
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia	ORPHA:75389
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Matthew-Wood Syndrome	Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney	ORPHA:2470
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Emanuel Syndrome	Hydrocephalus, Micropenis, Renal hypoplasia, Unilateral renal agenesis	ORPHA:96170
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Holoprosencephaly 14	Cerebellar atrophy, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, P...	OMIM:619895
Mosaic Trisomy 9	Hypoplasia of penis, Spina bifida, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Renal ...	ORPHA:99776
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Stromme Syndrome	Hydrocephalus, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho...	ORPHA:261552
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Renal hypoplasia, Holoprosencephaly, Neonatal death, Cystic renal dys...	OMIM:269860
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney	OMIM:602200
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Abnormality of the ureter	ORPHA:1035
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Neu-Laxova Syndrome	Spina bifida, Cerebellar hypoplasia, Dandy-Walker malformation, Abnormal cerebellar vermis morpho...	ORPHA:2671
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Hematuria, Nephrotic syndrome	OMIM:161200
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Tethered cord, Hypospadias, Renal agenesis, Spina bifid...	OMIM:192350
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Stillbirth, Renal hypoplasia, Renal cyst	OMIM:616300
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Partial agenesis of the corpus callosum, Lateral vent...	OMIM:304050
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Sacral Defect With Anterior Meningocele	Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy...	OMIM:600145
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Hydroureter, Hydronephrosis	OMIM:618240
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene...	ORPHA:157
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron...	OMIM:613390
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:603194
Microphthalmia, Syndromic 9	Renal malrotation, Renal hypoplasia, Horseshoe kidney, Neonatal death, Pelvic kidney, Hydronephrosis	OMIM:601186
Marden-Walker Syndrome	Micropenis, Hypospadias, Renal hypoplasia	OMIM:248700
Penile Agenesis	Urethral atresia, male, Hydroureter, Atrophy of the spinal cord, Fetal pyelectasis, Bilateral ren...	ORPHA:49
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Paraproteinemia, Chronic kidney disease, S...	ORPHA:329918
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Tethered cord, Hydronephrosis	OMIM:620141
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, P...	OMIM:619775
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:619510
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Abnormality of...	ORPHA:475
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tethered cord, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydrone...	OMIM:618460
Mu-Heavy Chain Disease	Nephropathy, Increased circulating antibody level, Bence Jones Proteinuria	ORPHA:100024
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Horseshoe kidney, Umbilical...	ORPHA:2092
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Decreased...	OMIM:606367
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza...	ORPHA:1834
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Encephalocele, Hypospadias, Epispadias, Exencephaly	ORPHA:2211
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Hydrocephalus, Optic atrophy, Chiari type I malformation, Cerebellar...	OMIM:618476
Trisomy 18	Spina bifida, Abnormality of the upper urinary tract, Anencephaly, Holoprosencephaly, Hydronephrosis	ORPHA:3380
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level...	OMIM:615816
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Rauch-Steindl Syndrome	Hyperechogenic kidneys, Bilateral renal hypoplasia, Miscarriage	OMIM:619695
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Abnormality of...	ORPHA:2318
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum, Cerebellar hypoplasia	OMIM:618810
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V...	ORPHA:93930
Short Stature, Microcephaly, And Endocrine Dysfunction	Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney	OMIM:616541
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Cerebellar vermis atrophy, Abnormal neuron morphology	ORPHA:163681
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Meningoencephaloc...	OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Type II liss...	OMIM:615287
Fanconi Anemia, Complementation Group F	Vesicoureteral reflux, Pelvic kidney, Microphallus, Renal hypoplasia	OMIM:603467
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Meningocele, Abnormality of the ureter, Umbilical hernia, Spina bifida occulta	ORPHA:2311
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi...	ORPHA:107
Fanconi Anemia, Complementation Group L	Hydrocephalus, Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:614083
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia	OMIM:618975
Lead Poisoning	Increased circulating IgE level, Chronic kidney disease, Renal tubular dysfunction, Abnormality o...	ORPHA:330015
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m...	ORPHA:2369
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level	ORPHA:2902
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Umbilical hernia, Hydronephrosis	OMIM:618454
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Renal cyst	OMIM:611561
Poland Syndrome	Duplicated collecting system, Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Renal hypopla...	ORPHA:2911
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Increased circulating IgG4 level, Increased circulating IgE level, Increased...	ORPHA:449432
Thoraco-Abdominal Enteric Duplication	Diastomatomyelia, Meningocele	ORPHA:1759
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Glomerulonephritis	OMIM:304790
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Spinal cord compression, Abnormality of the ureter, Hypospadias	ORPHA:2522
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Simplified gyral pattern, Gray matter ...	OMIM:615219
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:618534
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Absent specific antibody response, Increased circulating IgE level, ...	OMIM:102700
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Dandy-Walker malfor...	OMIM:617822
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening...	OMIM:614424
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria, Enlarged cerebellum	ORPHA:65285
Aspergillosis	Increased circulating IgE level	ORPHA:1163
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Death in infancy, Spina bifida, Dilatation of the renal ...	OMIM:274000
Igg4-Related Kidney Disease	Sterile pyuria, Increased circulating IgG level, Tubulointerstitial nephritis, Decreased circulat...	ORPHA:449395
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Renal agenesis, Hypospadias, Spina bifida, Renal hypoplasia, Horseshoe kidney, Pelvic kidney	ORPHA:508498
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Horseshoe kidney, Decreased circulating antibody level, Opisthot...	ORPHA:508533
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Molybdenum Cofactor Deficiency, Complementation Group C	Hypoplasia of the pons, Polymicrogyria, Cerebellar hypoplasia, Neonatal death	OMIM:615501
Wildervanck Syndrome	Meningocele	ORPHA:3456
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:1770
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph...	OMIM:180860
3C Syndrome	Death in infancy, Hydrocephalus, Optic atrophy, Abnormality of neuronal migration, Aplasia/Hypopl...	ORPHA:7
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene...	ORPHA:228308
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Myopathy With Extrapyramidal Signs	Perisylvian polymicrogyria, Optic atrophy, Cerebellar dysplasia	OMIM:615673
Neu-Laxova Syndrome 1	Ventriculomegaly, Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Cerebellar hypo...	OMIM:256520
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gliosis, Cerebellar dysplasia	ORPHA:457240
Pgm3-Cdg	Membranoproliferative glomerulonephritis, Increased circulating IgA level, Increased circulating ...	ORPHA:443811
Autoimmune Lymphoproliferative Syndrome	Renal insufficiency, Glomerulonephritis, Increased circulating IgA level, Increased circulating I...	ORPHA:3261
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morp...	ORPHA:397715
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Polymicrogyria, Cerebellar hypoplasia, Cerebellar dysplasia	ORPHA:500159
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Urethral atresia, Neonatal death, Hydronephrosis, Enlarged kidney	OMIM:314390
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Ventriculomegaly	ORPHA:2031
Andersen-Tawil Syndrome	Renal tubular dysfunction, Renal hypoplasia	ORPHA:37553
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Enlarged kidney	OMIM:615285
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Van Maldergem Syndrome 1	Hypospadias, Renal hypoplasia	OMIM:601390
Cerebrofacioarticular Syndrome	Hypospadias, Renal hypoplasia	ORPHA:314679
Tetrasomy 15Q26	Hydrocephalus, Syringomyelia, Hydronephrosis, Horseshoe kidney	OMIM:614846
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Fibular Hemimelia	Renal dysplasia, Spina bifida	ORPHA:93323
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Spina bifida, Hydrocephalus, Pineal cyst, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Spina bifida, Hydrocephalus, Pineal cyst, ...	ORPHA:363958
Curry-Jones Syndrome	Lipomyelomeningocele, Chiari type I malformation, Occipital meningocele, Agenesis of corpus callo...	OMIM:601707
Autoimmune Lymphoproliferative Syndrome, Type Iii	Reduced natural killer cell activity, Stage 5 chronic kidney disease, Nephrotic syndrome, Membran...	OMIM:615559
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal...	OMIM:122470
Van Maldergem Syndrome 2	Micropenis, Hypospadias, Renal hypoplasia	OMIM:615546
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level	ORPHA:2314
Jacobsen Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydronephrosis, Spina bifida	ORPHA:2308
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Alg3-Cdg	Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation	ORPHA:79321
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Spina bifida, ...	ORPHA:84
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep...	ORPHA:75857
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:615758
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Death in infancy, Hypospadias, ...	OMIM:270400
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Optic disc coloboma, Abnorm...	ORPHA:1454
Fraser Syndrome	Encephalocele, Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, ...	ORPHA:2052
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots	ORPHA:100
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, H...	ORPHA:468631
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc...	OMIM:618213
Holoprosencephaly	Encephalocele, Hydrocephalus, Spinal cord tumor, Spinal dysraphism, Branchial anomaly, Holoprosen...	ORPHA:2162
Kinsship Syndrome	Death in infancy, Renal hypoplasia, Horseshoe kidney	OMIM:619297
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad...	ORPHA:79403
O'Sullivan-Mcleod Syndrome	Tremor, Increased circulating antibody level	ORPHA:99965
Alagille Syndrome	Nephrotic syndrome, Spina bifida occulta, Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:52
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism	OMIM:603546
22Q11.2 Deletion Syndrome	Hypospadias, Spina bifida, Hydrocephalus, Meningocele, Renal hypoplasia, Occipital myelomeningoce...	ORPHA:567
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
Ulnar-Mammary Syndrome	Hypoplasia of penis, Renal hypoplasia	ORPHA:3138
Fraser Syndrome 1	Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Myelomeningocele, Hydrocephalus, Renal hypo...	OMIM:219000
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy...	ORPHA:35107
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Wiskott-Aldrich Syndrome	Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ...	OMIM:301000
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:93274
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Micropenis, Renal hypoplasia	OMIM:619321
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Umbilical hernia, Hydronephrosis	OMIM:619217
Lateral Meningocele Syndrome	Tethered cord, Hydrocephalus, Meningocele, Dural ectasia, Chiari type I malformation, Syringomyel...	OMIM:130720
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Hydrocephalus, Cerebellar dysplasia	ORPHA:8
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu...	ORPHA:98889
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s...	ORPHA:158684
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Acromelic Frontonasal Dysostosis	Encephalocele, Optic nerve hypoplasia, Retrocerebellar cyst, Gray matter heterotopia, Periventric...	OMIM:603671
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Trisomy 13	Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis	ORPHA:3378
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal...	OMIM:617667
Ulnar Hemimelia	Spinal dysraphism	ORPHA:93320
Spondylocostal Dysostosis 4, Autosomal Recessive	Chiari type II malformation, Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,...	OMIM:308240
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Campomelic Dysplasia	Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Hydronephrosis	OMIM:114290
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Tubulointerstitial nephritis, Increased circulating IgE level, Nephrotic syndrome, Membranous nep...	ORPHA:37042
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Dextrocardia	Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter	ORPHA:1666
Diamond-Blackfan Anemia 1	Spina bifida occulta, Renal hypoplasia	OMIM:105650
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Hallermann-Streiff Syndrome	Spina bifida	OMIM:234100
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chiari malformation, Holoprose...	OMIM:618820
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Optic disc pallor, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair	OMIM:619172
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Tethered cord, Hy...	OMIM:107480
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Coffin-Lowry Syndrome	Aplasia/Hypoplasia of the cerebellum, Death in early adulthood, Optic atrophy, Abnormality of neu...	ORPHA:192
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly	OMIM:616546
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Renal duplication	OMIM:270420
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Spinal arachnoid cyst, Tubuloint...	ORPHA:33001
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Gray matter heterotopia, Neonatal death, Pa...	OMIM:620024
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ...	ORPHA:169160
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Hydrocephalus, Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysp...	OMIM:210710
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Increased circulating antibody level	OMIM:614470
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Tethered cord, Spina bifida	OMIM:619480
Aredyld Syndrome	Abnormality of the ureter	ORPHA:1133
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis	OMIM:181270
Microcephaly 29, Primary, Autosomal Recessive	Enlarged cerebellum, Simplified gyral pattern	OMIM:620047
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of neuronal migration	ORPHA:44
Subacute Inflammatory Demyelinating Polyneuropathy	Tremor, Increased circulating IgG level, Choreoathetosis	ORPHA:206594
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Umbilical hernia, Spina bifida occult...	OMIM:135900
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication	ORPHA:96169
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia	ORPHA:2241
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ...	OMIM:263200
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula...	OMIM:300755
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
16P13.11 Microdeletion Syndrome	Holoprosencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration	ORPHA:261236
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Tethered cord, Epispadias, Vesicovagin...	OMIM:258040
14Q22Q23 Microdeletion Syndrome	Renal hypoplasia	ORPHA:264200
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Williams Syndrome	Death in early adulthood, Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinar...	ORPHA:904
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Knobloch Syndrome 1	Duplicated collecting system, Occipital encephalocele, Spina bifida occulta, Occipital meningocel...	OMIM:267750
Lateral Meningocele Syndrome	Meningocele, Dural ectasia, Syringomyelia, Chiari malformation, Umbilical hernia	ORPHA:2789
Paternal Uniparental Disomy Of Chromosome 5	Renal duplication	ORPHA:96190
Smith-Magenis Syndrome	Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:819
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Hydrocephalus, Stillbirth, Umbilical hernia, Hydronephrosis	OMIM:304120
Peutz-Jeghers Syndrome	Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Hydrocephalus, Ureteral triplication, Hydronephrosis	OMIM:104350
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Trichinellosis	Increased circulating IgE level	ORPHA:863
Papa Syndrome	Increased circulating antibody level, Proteinuria	ORPHA:69126
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus	ORPHA:2655
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Epispadias, Unilateral renal hypoplasia, Holoprosencephaly, Micropenis	OMIM:615948
Degcags Syndrome	Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull...	OMIM:619488
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Mi...	OMIM:227646
Rubinstein-Taybi Syndrome 1	Spina bifida occulta, Hypospadias, Hydronephrosis, Spina bifida	OMIM:180849
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Monoclonal elevation ...	ORPHA:91139
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level	OMIM:618048
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Renal hypoplasia	OMIM:620005
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Renal hypoplasia	OMIM:270100
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
8Q24.3 Microdeletion Syndrome	Branchial cyst, Abnormality of the kidney, Unilateral renal agenesis, Bilateral renal hypoplasia,...	ORPHA:508488
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Decreased circulating antibody level	ORPHA:397596
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Panhypopituitar...	OMIM:610828
Williams-Beuren Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urethral stenosis, Abnormal renal morpho...	OMIM:194050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Pachygyria, Polymicrog...	OMIM:253280
Renpenning Syndrome 1	Death in childhood, Hypospadias, Renal hypoplasia, Phimosis	OMIM:309500
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Okamoto Syndrome	Tethered cord, Urinary incontinence, Unilateral renal hypoplasia, Syringomyelia, Ureteropelvic ju...	ORPHA:2729
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia, Hydrocephalus	OMIM:187600
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Tethered cord, Renal hypoplasia	OMIM:617157
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Agenesis of...	OMIM:311200
Boutonneuse Fever	Increased circulating IgG level, Renal insufficiency, Increased circulating IgM level	ORPHA:83313
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Bohring-Opitz Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:605039
Cartilage-Hair Hypoplasia	Mucopolysacchariduria, Spinal dysraphism	ORPHA:175
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Diphallia	Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe...	ORPHA:227
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney	ORPHA:1225
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Optic atro...	OMIM:243910
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration	OMIM:608836
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,...	ORPHA:857
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Hydrocephalus, Renal hypoplasia, Umbilical hernia, Hydronephrosis	OMIM:261540
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu...	OMIM:236680
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Encephalitis Lethargica	Tremor, Increased circulating antibody level, Urinary incontinence	ORPHA:83600
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Charge Syndrome	Renal agenesis, Renal hypoplasia, Horseshoe kidney, Holoprosencephaly, Umbilical hernia, Micropen...	OMIM:214800
Diamond-Blackfan Anemia 10	Renal duplication, Ectopic kidney	OMIM:613309
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio...	ORPHA:276
Lathosterolosis	Meningocele, Chiari malformation, Cerebellar cortical atrophy	ORPHA:46059
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Abnormality of neuronal migration	ORPHA:2754
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Unilateral renal hypoplasia	OMIM:619950
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level	ORPHA:449563
Vici Syndrome	Gray matter heterotopia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:242840
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis	ORPHA:93271
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level	OMIM:618495
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the ureter	ORPHA:3253
Immunodeficiency 36 With Lymphoproliferation	Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:616005
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Occipital encephalocele, Renal agenesis, Large placenta, Hydrocephalus...	OMIM:249000
Tularemia	Increased circulating antibody level	ORPHA:3392
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm...	ORPHA:289
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy...	OMIM:214500
Orofaciodigital Syndrome Vi	Occipital meningocele, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypothalamic ha...	OMIM:277170
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus	ORPHA:1860
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Vesicoureteral reflux, Micropenis, Hypospadias, Renal hypoplasia	OMIM:309580
Leishmaniasis	Increased circulating antibody level	ORPHA:507
Schinzel-Giedion Syndrome	Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Neural tube ...	ORPHA:798
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Prolidase Deficiency	Hyperimidodipeptiduria, Increased circulating antibody level	OMIM:170100
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Multiple Myeloma	Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ...	ORPHA:29073
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Nephrocalcinosis, Umbilical hernia, Micropenis, Hydronephrosis, Renal duplication	OMIM:268310
Distal Duplication 17Q	Vesicoureteral reflux, Renal duplication	ORPHA:3379
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
Lassa Fever	Increased circulating IgM level, Oliguria	ORPHA:99824
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level, Glomerulonephritis	ORPHA:2137
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Peutz-Jeghers Syndrome	Abnormality of the ureter, Bladder polyp	OMIM:175200
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Increased circulating antibody level, Head tremor, Dystonia	OMIM:606002
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H...	ORPHA:79430
Japanese Encephalitis	Tremor, Opisthotonus, Choreoathetosis, Increased circulating IgM level, Pill-rolling tremor, Incr...	ORPHA:79139
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Schwartz-Jampel Syndrome	Death in infancy, Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, ...	ORPHA:800
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Chronic kidney disease, Paraproteinemia, Glomerul...	ORPHA:439232
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Increased circulating IgM level, Nephrotic syndrome, Focal segmental glomerulosclero...	OMIM:617303
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Hydronephrosis, Decreased circu...	OMIM:619472
Congenital Ptosis	Cafe-au-lait spot, Long eyelashes, Piebaldism	ORPHA:91411
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydroc...	ORPHA:709
Bernard-Soulier Syndrome	Partially duplicated kidney, Macroscopic hematuria	ORPHA:274
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Per...	ORPHA:434179
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Microphthalmia, Syndromic 6	Renal hypoplasia	OMIM:607932
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Increased circulating IgA level	OMIM:617099
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Large placenta, Miscarriage, Spinal dysraphism	ORPHA:96334
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level	OMIM:616395
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Fontaine Progeroid Syndrome	Death in infancy, Cerebellar vermis hypoplasia, Periventricular heterotopia, Hydrocephalus, Gray ...	OMIM:612289
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Neural ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Neural ...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Neural ...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Neural ...	ORPHA:220386
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Optic disc pallor, Polymicrogyria, Death in childhood	OMIM:214100
Al Amyloidosis	Renal insufficiency, Proteinuria, Nephrotic syndrome, Albuminuria, Increased circulating antibody...	ORPHA:85443
Pneumocystosis	Increased circulating antibody level	ORPHA:723
Gaucher Disease Type 1	Hematuria, Increased circulating antibody level, Proteinuria	ORPHA:77259
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation	ORPHA:2719
Prader-Willi Syndrome	Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation...	OMIM:176270
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Gliosis	ORPHA:26791
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:247200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Increased circulating IgM level, Nephrotic syndr...	ORPHA:505248
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Renal hypoplasia, Renal hypoplasia/aplasia	OMIM:309800
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Cystic Echinococcosis	Membranous nephropathy, Increased circulating antibody level, Renal cyst	ORPHA:400
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Selective Igm Deficiency	Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina...	ORPHA:331235
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl...	ORPHA:167
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Phocomelia, Schinzel Type	Meningocele	ORPHA:2879
Hyper-Igd Syndrome	Renal angiomyolipoma, Increased circulating IgD level, Elevated urine mevalonic acid level, Incre...	OMIM:260920
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Decreased circulating antibody level,...	ORPHA:470
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
Robinow Syndrome, Autosomal Dominant 1	Umbilical hernia, Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Scleromyxedema	Paraproteinemia	ORPHA:167635
Ebola Hemorrhagic Fever	Increased circulating antibody level	ORPHA:319218
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Insulin-Resistance Syndrome Type B	Proteinuria, Decreased circulating complement factor B concentration, Increased circulating IgA l...	ORPHA:2298
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Postinfectious Vasculitis	Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Increased circulating ...	ORPHA:48435
Tick-Borne Encephalitis	Tremor, Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulati...	ORPHA:297
Congenital Tracheal Stenosis	Abnormality of the ureter, Abnormality of the kidney	ORPHA:141127
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Abnormal autonomic nervous system physiology	ORPHA:453499
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Abnormality of neuronal migration	ORPHA:464311
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:352665
Rift Valley Fever	Hematuria, Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Q Fever	Hematuria, Cryoglobulinemia, Increased circulating antibody level	ORPHA:781
Poems Syndrome	Increased circulating antibody level	ORPHA:2905
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level	OMIM:617591
Koolen-De Vries Syndrome	Gray matter heterotopia	OMIM:610443
Primary Biliary Cholangitis	Increased circulating IgM level, Increased circulating IgA level	ORPHA:186
Primary Sjögren Syndrome	Renal insufficiency, Glomerulonephritis, Decreased circulating antibody level, Tubulointerstitial...	ORPHA:289390
Gaucher Disease Type 3	Hematuria, Increased circulating antibody level, Proteinuria	ORPHA:77261
Aicardi-Goutieres Syndrome 7	Nephrotic syndrome, Increased circulating antibody level, Dystonia	OMIM:615846
Marfan Syndrome	Meningocele, Dural ectasia	ORPHA:558
Alveolar Echinococcosis	Increased circulating antibody level, Renal cyst	ORPHA:284
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Tubulointerstitial Nephritis And Uveitis Syndrome	Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobulinuria, Increased circulatin...	ORPHA:91500
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Tubulointerstitial nephritis, Increased circulating IgG4 level, ...	ORPHA:79078
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair	ORPHA:818
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat...	OMIM:256040
Gaucher Disease	Hematuria, Increased circulating antibody level, Tremor, Proteinuria	ORPHA:355
Coccidioidomycosis	Increased circulating IgG level, Renal insufficiency, Increased circulating IgM level	ORPHA:228123
Cystinosis, Nephropathic	Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm...	OMIM:219800
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ...	ORPHA:261537
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord...	ORPHA:2152
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level, Hypercalciuria	OMIM:181000
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Yellow Fever	Increased circulating interleukin 6 concentration, Anuria, Renal insufficiency, Increased circula...	ORPHA:99829
Primary Sclerosing Cholangitis	Renal insufficiency, Polyclonal elevation of IgM	ORPHA:171
Brucellosis	Increased circulating IgG level, Increased circulating IgM level, Glomerulonephritis	ORPHA:1304
Crimean-Congo Hemorrhagic Fever	Hematuria, Increased circulating IgG level, Increased circulating IgM level, Proteinuria	ORPHA:99827
Marburg Hemorrhagic Fever	Renal insufficiency, Increased circulating antibody level	ORPHA:99826
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele	OMIM:276820
Proteus Syndrome	Gray matter heterotopia	ORPHA:744

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 Plxnb2

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 Plxnb2.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Plexin-B1 and Plexin-B2 play non-redundant roles in GABAergic synapse formation.	Molecular and cellular neurosciences (February 2024)	Plxnb2^{tm1c(EUCOMM)Wtsi}	38331011
Macrophages facilitate peripheral nerve regeneration by organizing regeneration tracks through Plexin-B2.	Genes & development (January 2022)	Plxnb2^{tm1c(EUCOMM)Wtsi}	PMC8887133
Microglia and macrophages promote corralling, wound compaction and recovery after spinal cord injury via Plexin-B2.	Nature neuroscience (March 2020)	Plxnb2^{tm1c(EUCOMM)Wtsi} Plxnb2^{tm1a(EUCOMM)Wtsi}	32112058
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Plxnb2^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Plxnb2^{tm1a(EUCOMM)Wtsi}	PMC6459510
Plexin-B2 Mediates Physiologic and Pathologic Functions of Angiogenin.	Cell (November 2017)	Plxnb2^{tm1c(EUCOMM)Wtsi}	29100074
Impaired cortical neurogenesis in plexin-B1 and -B2 double deletion mutant.	Developmental neurobiology (December 2015)	Plxnb2^{tm1c(EUCOMM)Wtsi} Plxnb2^{tm1a(EUCOMM)Wtsi}	26579598
Semaphorin 4C and 4G are ligands of Plexin-B2 required in cerebellar development.	Molecular and cellular neurosciences (November 2010)	Plxnb2^{tm1a(EUCOMM)Wtsi}	PMC3030677

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Plxnb2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Plxnb2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, 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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