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Gene: Plxnb2 MGI:2154239

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Gene Summary

Name:
plexin B2
Synonyms:
1110007H23Rik,  Debt

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal urination Plxnb2tm1a(EUCOMM)Wtsi HET Early adult 8.57×10-06
increased IgE level Plxnb2tm1a(EUCOMM)Wtsi HET Early adult 3.92×10-06
abnormal response to tactile stimuli Plxnb2tm1a(EUCOMM)Wtsi HET   Early adult 6.38×10-06

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images
Plxnb2tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI
Plxnb2tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Plxnb2tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Plxnb2tm1a(EUCOMM)Wtsi
forearm, HET, Female, WTSI
Plxnb2tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI

View all 86 images

Plxnb2tm1a(EUCOMM)Wtsi
eye, cataracts, fused cornea and lens, corneal opacity, HET, Female, WTSI
Plxnb2tm1a(EUCOMM)Wtsi
eye, corneal opacity, cataracts, fused cornea and lens, HET, Female, WTSI
Plxnb2tm1a(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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft 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
Albinism, Red hair, Partial albinism OMIM:203290
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Partial agen... OMIM:604213
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect OMIM:615041
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Spina Bifida-Hypospadias Syndrome
Spina bifida, Hypospadias, Spinal dysraphism ORPHA:3176
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
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
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Simplified gyral pattern, Abnormal neuron morphology, Abnormal cerebellum morphology ORPHA:329228
Lissencephaly 3
Gray matter heterotopia, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Pachygyria, Periven... OMIM:611603
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Lissencephaly 1
Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, Subcortical band heterotop... OMIM:607432
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum ORPHA:945
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Optic atrophy, Cerebellar hypoplasia OMIM:618572
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Periventricular nodular heterotopia OMIM:618185
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum, Colp... OMIM:614019
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Caudal Duplication
Myelomeningocele, Spina bifida, Renal hypoplasia/aplasia, Spinal cord lesion, Ureteral duplicatio... ORPHA:1756
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:171703
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar hypoplasia, Polymicrogyria, Lissencephaly, Partial agenesis of the corpus callosum, Pa... OMIM:610031
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Optic atrophy, Cerebellar hypoplasia, Hydrocephalus, Type II lissencepha... ORPHA:352682
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal cyst, Hydranencephaly, Stillbirth, Renal hypoplasia, Ne... OMIM:236500
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Hypoplasia of the pons, Lissencephaly, Cerebellar hypoplasia OMIM:618677
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Chiari Malformation Type Ii
Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelo... OMIM:207950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Cerebellar hypoplasia, Simplified gyral pattern, Cerebellar cyst, Agenesis ... OMIM:613153
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... OMIM:618944
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Optic atrophy, Cerebellar hypoplasia, Simplified gyral pattern, Hypo... OMIM:616171
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... OMIM:613092
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ... OMIM:300067
Lissencephaly 5
Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II ... OMIM:615191
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria ORPHA:101029
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... ORPHA:998
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Vacterl Association With Hydrocephalus
Renal hypoplasia, Hydrocephalus, Aqueductal stenosis, Stillbirth OMIM:276950
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:610163
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Bardet-Biedl Syndrome 19
Renal hypoplasia, Renal insufficiency, Hydronephrosis OMIM:615996
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
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Bresek Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Hydrocephalus, Renal hypoplasi... ORPHA:85284
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Optic nerve hypoplas... OMIM:615181
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial... OMIM:616212
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:616760
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cereb... OMIM:617967
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Cerebellar hypoplasia, Agyria, Lissencephaly, Neonatal death, Agenesis of corpu... OMIM:616342
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Schisis Association
Spina bifida, Anencephaly, Renal agenesis, Encephalocele ORPHA:63862
Kimura Disease
Increased circulating IgE level ORPHA:482
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Cerebellar cyst, Facial diplegia, Pachygyria, Cerebellar atrophy ORPHA:370980
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular sclerosis, Glomerular sub... OMIM:614377
Scalp-Ear-Nipple Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephritis, Duplication of ren... ORPHA:2036
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Bilateral renal agenesis, Arrhinencephaly, Renal hypoplasia, Hyperechogenic ki... OMIM:617914
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypopl... OMIM:616531
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication ORPHA:457212
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair OMIM:617252
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
15q26 overgrowth syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Renal agenesis, Du... DECIPHER:81
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Renal agenesis, Hypospadias, Renal hypoplasia, Micropenis, Umbilical hernia ORPHA:171839
Czeizel-Losonci Syndrome
Ureteral agenesis, Myelomeningocele, Congenital megaureter, Spina bifida, Hydrocephalus, Spina bi... ORPHA:2437
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced antigen-specific T cell proliferation, Increased circula... OMIM:617241
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Abnormal optic disc morphology, Encephalocele, Abnor... ORPHA:65
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Amish Lethal Microcephaly
Spina bifida, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia ORPHA:99742
Meckel Syndrome 12
Renal hypoplasia, Arrhinencephaly, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Band Heterotopia
Gray matter heterotopia, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopi... OMIM:600348
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Nephroblastoma, Spinal dysraphism, Tethered cord OMIM:612918
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar hemisphere hypoplasia, Simplified gyral pattern, Gliosis, Cerebellar atrophy, Agenesis... OMIM:615095
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Cloacal Exstrophy
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Hydroureter, Renal hypoplasia/aplasia, Hyp... ORPHA:93929
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, 4-layered lissencephaly, Microlissencephaly, Cerebellar atroph... ORPHA:89844
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Craniotelencephalic Dysplasia
Optic atrophy, Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Liss... ORPHA:1528
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux, Spinal dysraphism, Tethered cord OMIM:617660
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Lumbar Syndrome
Vesicoureteral reflux, Renal duplication, Myelomeningocele, Spina bifida, Renal agenesis, Hypospa... ORPHA:83628
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Frontal encephaloc... OMIM:218670
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... OMIM:619632
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Reduced natural killer cell activity, Decreased circulating IgE,... OMIM:300400
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Gray matter heterotopia, Cerebellar dysplasia, Cerebellar cyst, Cerebel... OMIM:615960
Congenital Primary Megaureter
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... ORPHA:617
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Holoprosencephaly, Unilateral renal agenesis ORPHA:141099
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Diabetic Embryopathy
Spinal dysraphism, Renal hypoplasia/aplasia, Hydrocephalus, Ureteral duplication, Micropenis, Hyd... ORPHA:1926
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Isolated Klippel-Feil Syndrome
Spina bifida, Renal hypoplasia/aplasia ORPHA:2345
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia, Death in childhood OMIM:604273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Abnormality of neuronal migration, Pachygyria, Cerebellar hypoplasia OMIM:608840
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Abnormal... ORPHA:370959
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Anencephaly,... ORPHA:1908
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Joubert Syndrome 30
Cerebellar atrophy, Superior cerebellar dysplasia, Gray matter heterotopia, Dandy-Walker malforma... OMIM:617622
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... OMIM:604317
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dysplasia OMIM:601389
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, Facial ... OMIM:613155
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Lissencephaly, Optic nerve hypoplasia, Cerebellar atrophy, Dysplastic corpus callosum, Agenesis o... OMIM:614833
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity ORPHA:277
Renal Hypoplasia
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... ORPHA:93101
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Syringomyelia, Hydronephrosis OMIM:613735
Even-Plus Syndrome
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:616854
Sirenomelia
Spina bifida, Abnormality of the urinary system, Renal hypoplasia/aplasia, Sirenomelia ORPHA:3169
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:277580
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Death in infancy, Renal cyst, Renal hypoplasia, Renal in... OMIM:614922
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux, Abnormal conus terminalis morphology ORPHA:464288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Cerebellar hypoplasia, Death in ... OMIM:614643
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria OMIM:610205
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Exstrophy-Epispadias Complex
Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Renal duplication, Absent penis, ... ORPHA:322
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:614120
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis ORPHA:1745
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern, Cerebellar vermis hypoplasia, Cerebellar h... OMIM:618273
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar dysplasia, Lateral ventricle dilatation, Dysgenesis of the c... OMIM:617751
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Dandy-Walker malformation, Agenesis of corpus callosum, Orbital encephal... OMIM:164180
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA level, Part... OMIM:619824
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum ORPHA:588
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis OMIM:274265
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis OMIM:617926
Neu-Laxova Syndrome 2
Spina bifida, Ventriculomegaly, Cerebellar hypoplasia OMIM:616038
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... ORPHA:449400
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis, Ectopic kidney OMIM:212780
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Ventriculomegaly ORPHA:1120
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus OMIM:266810
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Cerebrocostomandibular Syndrome
Meningocele, Multicystic kidney dysplasia, Myelomeningocele, Death in infancy, Spina bifida, Hydr... ORPHA:1393
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the pons, Cerebellar dysplasia, Abnormal cerebellum morphology, Cerebellar vermis h... ORPHA:101070
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal dysplasia, Hypoplasia of penis, Renal hypoplasia, Renal insufficiency, Umbilical hernia ORPHA:85321
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Increased circulating IgE level, Decreased circulating total IgM... OMIM:619752
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:255138
Neurocutaneous Melanocytosis
Meningocele, Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Ventriculomegaly, Syringo... ORPHA:2481
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration, Cerebellar hypoplasia OMIM:300049
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Iniencephaly
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Syr... ORPHA:63259
Simpson-Golabi-Behmel Syndrome, Type 1
Nephroblastoma, Enlarged kidney, Hydrocephalus, Renal cyst, Duplication of renal pelvis, Hypospad... OMIM:312870
Walker-Warburg Syndrome
Abnormality of neuronal migration, Optic atrophy, Cerebellar hypoplasia, Abnormal cerebellar verm... ORPHA:899
Subependymal Nodular Heterotopia
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia... ORPHA:101030
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis OMIM:247800
Phakomatosis Pigmentokeratotica
Spina bifida, Nephroblastoma, Unilateral renal hypoplasia, Renal transitional cell carcinoma ORPHA:2874
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... ORPHA:97362
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level OMIM:618523
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... OMIM:614376
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... ORPHA:3437
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus, Hydronephrosis ORPHA:2839
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Agenesis of cerebellar vermis, Dandy-Walk... OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Cerebellar hypoplasia, Death in infancy, Cerebellar cyst, Hy... OMIM:613150
Vici Syndrome
Gray matter heterotopia, Optic atrophy, Cerebellar hypoplasia, Death in infancy, Hypoplasia of th... ORPHA:1493
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level OMIM:147060
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Myeloma, Multiple
Paraproteinemia OMIM:254500
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Hemimegalencephaly
Gray matter heterotopia, Optic atrophy, Gliosis, Pachygyria, Abnormal neuron morphology, Polymicr... ORPHA:99802
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Increased circulating IgE level, Hypoplasia of penis ORPHA:3409
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Renal agenesis, Holoprosencephaly, Renal hypoplasia, Micropenis OMIM:264480
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Unilateral renal agenesis OMIM:601355
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Unilateral renal agenesis, Hydronephrosis OMIM:618494
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM OMIM:243700
Trisomy 20P
Spina bifida, Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal c... ORPHA:261318
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypospadias, Abnormality of the ureter, Hypoplasia of penis ORPHA:1046
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Emanuel Syndrome
Recurrent urinary tract infections, Hydrocephalus, Unilateral renal agenesis, Renal hypoplasia, M... OMIM:609029
Cach Syndrome
Renal hypoplasia ORPHA:135
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Umbilical hernia OMIM:618914
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Duane-Radial Ray Syndrome
Vesicoureteral reflux, Crossed fused renal ectopia, Renal malrotation, Renal agenesis, Spina bifi... OMIM:607323
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Abnormality of neuronal migration, Abnormal cerebellum morphology, Cerebellar vermis hyp... OMIM:300957
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Schizophrenia 1
Ectopic kidney, Renal agenesis, Partially duplicated kidney OMIM:181510
Posterior Meningocele
Meningocele, Chiari malformation, Neural tube defect, Occipital meningocele, Hydromyelia, Hydroce... ORPHA:268810
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
12Q14 Microdeletion Syndrome
Renal hypoplasia, Horseshoe kidney, Syringomyelia, Ectopic kidney ORPHA:94063
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Vesicoureteral reflux, Abnormal renal morphology, Horseshoe kidney OMIM:609053
Caudal Regression Syndrome
Vesicoureteral reflux, Arrhinencephaly, Renal agenesis, Ectopic kidney, Abnormality of the ureter... ORPHA:3027
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Decreased numbers of nephro... OMIM:617641
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Umbilical hernia, Absence of renal corticomedullary differentiation OMIM:619758
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Renal cyst, Ectopic kidney, Holoprosencephaly, Renal hypoplasia, Di... OMIM:146510
Netherton Syndrome
Aminoaciduria, Decreased circulating antibody level, Ectopic kidney, Increased circulating IgE le... ORPHA:634
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder OMIM:617666
Pagod Syndrome
Meningocele, Multicystic kidney dysplasia, Encephalocele, Death in infancy, Renal hypoplasia/apla... ORPHA:991
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgE, Impaired Ig class switch recombination, I... OMIM:308230
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Renal hypoplasia, Renal insufficien... OMIM:617595
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Optic disc pallor, Death in infancy, Cerebellar hypoplasia OMIM:613730
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:617397
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Optic atrophy ORPHA:2518
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... ORPHA:894
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Ureteral atresia, Unilateral renal agenesis, Death in infancy, Bilateral renal agenesis OMIM:618845
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Vesicoureteral Reflux 3
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... OMIM:613674
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Split Cord Malformation
Meningocele, Urinary incontinence, Renal duplication, Myelomeningocele, Detrusor sphincter dyssyn... ORPHA:573278
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Cerebella... ORPHA:370022
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Urinary urgency, Bladder trabeculation... OMIM:615112
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Optic atrophy, Simplified gyral pattern, Communicating hydrocephalus, Li... OMIM:615219
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating total IgM, Decr... OMIM:618394
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Matthew-Wood Syndrome
Renal hypoplasia, Vesicoureteral reflux, Horseshoe kidney ORPHA:2470
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Acromelic Frontonasal Dysplasia
Meningocele, Retrocerebellar cyst, Anterior pituitary hypoplasia, Encephalocele, Ventriculomegaly... ORPHA:1827
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Emanuel Syndrome
Renal hypoplasia, Micropenis, Hydrocephalus, Unilateral renal agenesis ORPHA:96170
Stromme Syndrome
Hydrocephalus, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Holoprosencephaly 14
Gray matter heterotopia, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Alobar ... OMIM:619895
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Mosaic Trisomy 9
Renal dysplasia, Spina bifida, Hypoplasia of penis, Multiple renal cysts, Horseshoe kidney, Hydro... ORPHA:99776
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Renal agenesis, Ectopic kidney, Horseshoe kidney, Ureteral duplication OMIM:602200
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ... OMIM:236730
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria ORPHA:2512
Duplication Of Urethra
Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Recurrent urinary tract ... ORPHA:237
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Cystic renal dysplasia, Holoprosencephaly, Renal hypoplasia, Neonatal... OMIM:269860
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Agenesis of corpus callosum... ORPHA:1136
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased circulating IgG2 level, Increased circulating IgM level, Decreased specific pneumococca... OMIM:615513
Hinman Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... ORPHA:84085
Renal Cysts And Diabetes Syndrome
Stage 5 chronic kidney disease, Glycosuria, Abnormality of the kidney, Decreased numbers of nephr... OMIM:137920
Senior-Boichis Syndrome
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Abnormal renal insterstitial morpho... ORPHA:84081
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Umbilical hernia ORPHA:1035
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Vesicoureteral reflux, Multicystic kidney dysplasia, Hydronephrosis, Renal ... ORPHA:261552
Neu-Laxova Syndrome
Ventriculomegaly, Cerebellar hypoplasia, Spina bifida, Abnormal cerebellar vermis morphology, Dan... ORPHA:2671
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Nail-Patella Syndrome
Nephrotic syndrome, Spina bifida, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency OMIM:161200
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias OMIM:614091
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Encephalocele, Stillbirth OMIM:616300
Aicardi Syndrome
Dilated third ventricle, Chiari malformation, Lateral ventricle dilatation, Spina bifida, Partial... OMIM:304050
Fanconi Anemia, Complementation Group O
Death in infancy, Stage 5 chronic kidney disease, Miscarriage, Renal cyst, Neonatal death, Hydron... OMIM:613390
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Urinary retention, Hydromyelia, Neurogenic bladder, Hydrocephalus,... OMIM:600145
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Death in infancy, Hydronephrosis OMIM:618240
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele, Dandy-Walker malformation OMIM:603194
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Hydrocephalus, Cerebellar vermis hypoplasia, Pachygyria, Agene... ORPHA:157
Developmental Delay, Language Impairment, And Ocular Abnormalities
Tethered cord, Myelomeningocele, Hydronephrosis OMIM:620141
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair ORPHA:2221
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Vesicoureteral reflux, Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage... OMIM:191800
Marden-Walker Syndrome
Renal hypoplasia, Hypospadias, Micropenis OMIM:248700
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Nephrotic syndrome, Stage 5 chronic kidney dis... ORPHA:329918
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Penile Agenesis
Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cystic renal dysplasia, Ab... ORPHA:49
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Vater/Vacterl Association
Vesicoureteral reflux, Renal dysplasia, Spina bifida, Renal agenesis, Patent urachus, Ectopic kid... OMIM:192350
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Joubert Syndrome
Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Polymicro... ORPHA:475
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Bence Jones Proteinuria ORPHA:100024
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Hydrocephalus, Renal cyst, Abnormality of the ureter, Abnormal localiza... ORPHA:1834
Penoscrotal Transposition
Renal dysplasia, Penoscrotal transposition, Renal agenesis, Abnormality of the ureter, Hypospadia... ORPHA:2842
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Cerebellar verm... OMIM:619775
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating total IgM, Decr... OMIM:619510
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Horseshoe kidney, Umbilical... ORPHA:2092
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Decreased... OMIM:606367
Oculocutaneous Albinism Type 1
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... ORPHA:352731
Prune Belly Syndrome
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... ORPHA:2970
Trisomy 18
Spina bifida, Anencephaly, Abnormality of the upper urinary tract, Holoprosencephaly, Hydronephrosis ORPHA:3380
Khan-Khan-Katsanis Syndrome
Vesicoureteral reflux, Renal cyst, Tethered cord, Renal hypoplasia, Ureteral duplication, Hydrone... OMIM:618460
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Optic atrophy, Cerebellar hypoplasia, Agenesis of corpus callosum, H... OMIM:618476
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Epispadias, Hypospadias, Abnormal penis morphology ORPHA:2211
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Membranous n... ORPHA:49041
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Membranoproliferative glomerulo... OMIM:615816
Joubert Syndrome With Oculorenal Defect
Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Cerebella... ORPHA:2318
Rauch-Steindl Syndrome
Hyperechogenic kidneys, Bilateral renal hypoplasia, Miscarriage OMIM:619695
Bladder Exstrophy
Vesicoureteral reflux, Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnor... ORPHA:93930
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... OMIM:614723
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum, Cerebellar hypoplasia OMIM:618810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Cerebellar hypo... OMIM:615287
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Micropenis, Unilateral renal agenesis, Ectopic kidney OMIM:616541
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Hydrocephalus, Unilateral renal agenesis OMIM:614083
Meckel Syndrome, Type 5
Renal cyst, Occipital encephalocele, Anencephaly OMIM:611561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cerebellar dysplasia, Optic atrophy, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebell... OMIM:236670
Lead Poisoning
Tubulointerstitial nephritis, Abnormality of humoral immunity, Increased circulating IgE level, R... ORPHA:330015
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... ORPHA:999
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Spina bifida occulta, Abnormality of the ureter, Hypospadias, Umbilical hernia ORPHA:2311
Congenital Myopathy 17
Renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:618975
Bor Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... ORPHA:107
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Vesicoureteral reflux, Pelvic kidney, Microphallus OMIM:603467
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... ORPHA:449432
Microphthalmia, Syndromic 9
Renal malrotation, Horseshoe kidney, Pelvic kidney, Renal hypoplasia, Hydronephrosis OMIM:601186
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Hypoplasia of the bladder, Recurrent urinary tract infections, Stag... OMIM:614527
Poland Syndrome
Vesicoureteral reflux, Encephalocele, Renal hypoplasia/aplasia, Spina bifida occulta, Hypospadias... ORPHA:2911
Limb Body Wall Complex
Encephalocele, Myelomeningocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... ORPHA:2369
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgG2 level, Absent specific antibody respo... OMIM:102700
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Increa... OMIM:618534
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
Thoraco-Abdominal Enteric Duplication
Meningocele, Diastomatomyelia ORPHA:1759
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Microphallus, Renal cyst, Renal hypoplasia, Umbilical hernia, Hydronephrosis OMIM:618454
Aspergillosis
Increased circulating IgE level ORPHA:1163
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Cerebellar vermis atrophy, Abnormality of neuronal migration ORPHA:163681
Lhermitte-Duclos Disease
Enlarged cerebellum, Hydrocephalus, Polymicrogyria ORPHA:65285
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Increased circulating IgE level OMIM:304790
Thrombocytopenia-Absent Radius Syndrome
Vesicoureteral reflux, Death in infancy, Spina bifida, Renal malrotation, Axial malrotation of th... OMIM:274000
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Lissencephal... OMIM:617822
Joubert Syndrome 14
Meningocele, Encephalocele, Hydrocephalus, Agenesis of cerebellar vermis, Dandy-Walker malformati... OMIM:614424
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Renal agenesis, Hypospadias, Horseshoe kidney, Pelvic kidney, Renal hypoplasia ORPHA:508498
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Molybdenum Cofactor Deficiency, Complementation Group C
Hypoplasia of the pons, Neonatal death, Polymicrogyria, Cerebellar hypoplasia OMIM:615501
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... OMIM:203100
Wildervanck Syndrome
Meningocele ORPHA:3456
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Optic atrophy, Death in ... ORPHA:7
Autoimmune Lymphoproliferative Syndrome
Decreased circulating total IgM, Increased circulating antibody level, Increased circulating IgG ... ORPHA:3261
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis OMIM:617913
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Umbilical hernia ORPHA:1770
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Increased circulating IgG4 level, Decreased circulating complement C... ORPHA:449395
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Hydrocephalus, Cerebellar vermis hypoplasia, Pachygyria, Agene... ORPHA:228308
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Pgm3-Cdg
Reduced antigen-specific T cell proliferation, Membranoproliferative glomerulonephritis, Increase... ORPHA:443811
Myopathy With Extrapyramidal Signs
Cerebellar dysplasia, Perisylvian polymicrogyria, Optic atrophy OMIM:615673
Carney Complex, Type 1
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair OMIM:160980
Neu-Laxova Syndrome 1
Ventriculomegaly, Cerebellar hypoplasia, Spina bifida, Short umbilical cord, Agenesis of corpus c... OMIM:256520
Humero-Radial Synostosis
Meningocele ORPHA:3265
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus OMIM:109400
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Gliosis ORPHA:457240
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydrocephalus, Neonatal death, Hydronephrosis OMIM:314390
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia ORPHA:500159
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613266
Andersen-Tawil Syndrome
Renal hypoplasia, Renal tubular dysfunction ORPHA:37553
Posterior Urethral Valve
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... ORPHA:93110
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Abnormal cerebellum morphology, Elongated superior cerebell... ORPHA:397715
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Ventriculomegaly ORPHA:2031
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... ORPHA:2704
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias OMIM:601390
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Enlarged kidney OMIM:615285
Cerebrofacioarticular Syndrome
Renal hypoplasia, Hypospadias ORPHA:314679
Fibular Hemimelia
Spina bifida, Renal dysplasia ORPHA:93323
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Increased circulating IgE level OMIM:602450
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased circulating complement C3 concentration, Absent isohemagglutinin level, Reduced natural... OMIM:615559
Atresia Of Urethra
Vesicoureteral reflux, Recurrent urinary tract infections, Renal dysplasia, Hydroureter, Bladder ... ORPHA:105
Cornelia De Lange Syndrome 1
Vesicoureteral reflux, Renal cyst, Reduced renal corticomedullary differentiation, Hypospadias, E... OMIM:122470
Silver-Russell Syndrome 1
Nephroblastoma, Congenital posterior urethral valve, Abnormality of the ureter, Hypospadias, Uret... OMIM:180860
Curry-Jones Syndrome
Ventriculomegaly, Lipomyelomeningocele, Chiari type I malformation, Occipital meningocele, Agenes... OMIM:601707
Van Maldergem Syndrome 2
Renal hypoplasia, Hypospadias, Micropenis OMIM:615546
Immunodeficiency 22
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating total IgM, Decr... OMIM:615758
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level ORPHA:2314
Fanconi Anemia
Abnormal preputium morphology, Recurrent urinary tract infections, Spina bifida, Hydroureter, Ren... ORPHA:84
Jacobsen Syndrome
Spina bifida, Multicystic kidney dysplasia, Death in infancy, Hydronephrosis ORPHA:2308
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Ventriculomegaly, Spina bifida, Pineal cys... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Ventriculomegaly, Spina bifida, Pineal cys... ORPHA:363958
Hypouricemia, Renal, 1
Urolithiasis, Renal cortical hyperechogenicity, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Smith-Lemli-Opitz Syndrome
Death in infancy, Hydrocephalus, Renal agenesis, Unilateral renal agenesis, Renal cyst, Holoprose... OMIM:270400
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Alg3-Cdg
Hypoplasia of the pons, Dandy-Walker malformation, Neural tube defect ORPHA:79321
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Abnormality of neuronal migration, Colpocephaly, Cerebellar hypoplasia, ... ORPHA:75857
22Q11.2 Deletion Syndrome
Meningocele, Vesicoureteral reflux, Spina bifida, Arrhinencephaly, Hydrocephalus, Polycystic kidn... ORPHA:567
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... OMIM:300291
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis OMIM:619362
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... ORPHA:3440
Joubert Syndrome With Hepatic Defect