Gene Summary

Name:
plexin B2
Synonyms:
1110007H23Rik,  Debt

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 response to tactile stimuli Plxnb2tm1a(EUCOMM)Wtsi HET   Early adult 6.38×10-06
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

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

View all 86 images

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
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair 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
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Cerebellar dy... OMIM:604213
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly, Neural tube defect OMIM:615041
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Hypospadias, Spina bifida ORPHA:3176
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebellum morphology, Abnormal neuron morphology, Simplified gyral pattern ORPHA:329228
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Lissencephaly 3
Cerebellar vermis hypoplasia, Polymicrogyria, Agyria, Gray matter heterotopia, Agenesis of corpus... OMIM:611603
Lissencephaly 1
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Cerebel... OMIM:607432
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Acalvaria
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida ORPHA:945
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Cerebellar hypoplasia, Periventricular nodular heterotopia OMIM:618572
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Periventricular nodular heterotopia OMIM:618185
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Lissencephaly 4
Lissencephaly, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hy... OMIM:614019
Microlissencephaly
Polymicrogyria, Cerebellar atrophy, Subcortical heterotopia, Simplified gyral pattern, Pachygyria... ORPHA:1083
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Caudal Duplication
Renal hypoplasia/aplasia, Ureteral duplication, Myelomeningocele, Spina bifida, Spinal cord lesio... ORPHA:1756
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Agenesis of corpus callosum, Polymicrogyria ORPHA:171703
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Lissencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, Unilateral polymicrogyria, Agenesis ... OMIM:610031
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Dysgyria, Hydrocephalus, Type II lissencephaly, Gray matt... ORPHA:352682
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia, Lissencephaly OMIM:618677
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of co... OMIM:207950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Death in childhood, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Typ... OMIM:613153
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
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
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Hydranencephaly, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Ren... OMIM:236500
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Cerebellar atrophy, Gray matter heterotopia, Hypoplasia of the pons, Perisylvian ... ORPHA:300573
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgE level, Increased circulating interleuk... OMIM:618944
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar h... OMIM:616171
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Joubert Syndrome 15
Exencephaly, Nephronophthisis, Micropenis OMIM:614464
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Death in infancy, Pachygyria, Agenesis of corpus callosum, Lisse... OMIM:300067
Lissencephaly 5
Optic atrophy, Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Type II liss... OMIM:615191
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia ORPHA:101029
Joubert Syndrome 30
Dandy-Walker malformation, Polymicrogyria, Cerebellar atrophy, Gray matter heterotopia, Agenesis ... OMIM:617622
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Renal hypoplasia, Stillbirth, Hydrocephalus OMIM:276950
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Agenesis of co... OMIM:619301
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Meier-Gorlin Syndrome 8
Nephroptosis, Unilateral renal hypoplasia OMIM:617564
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Micropenis, Spina bifida OMIM:620439
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Ce... OMIM:615181
Bresek Syndrome
Hydrocephalus, Vesicoureteral reflux, Hypoplasia of the bladder, Renal hypoplasia, Neonatal death... ORPHA:85284
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Cerebellar atrophy, Simplified gyral pattern, Pachygyria, Lis... OMIM:616212
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Lissencephaly 7 With Cerebellar Hypoplasia
Lissencephaly, Agyria, Death in infancy, Neonatal death, Agenesis of corpus callosum, Cerebellar ... OMIM:616342
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication ORPHA:457212
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Craniotelencephalic Dysplasia
Optic atrophy, Lissencephaly, Hydrocephalus, Septo-optic dysplasia, Agenesis of corpus callosum, ... ORPHA:1528
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Schisis Association
Renal agenesis, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Kimura Disease
Increased circulating IgE level ORPHA:482
Scalp-Ear-Nipple Syndrome
Abnormality of the kidney, Ureteral duplication, Recurrent urinary tract infections, Duplication ... ORPHA:2036
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Perisylvian polymicrogyria, Cerebellar dyspl... OMIM:616531
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Joubert Syndrome 23
Cerebellar dysplasia, Dysplastic corpus callosum OMIM:616490
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum, Spina bifida ORPHA:99742
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Czeizel-Losonci Syndrome
Congenital megaureter, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, Urete... ORPHA:2437
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Leber Congenital Amaurosis
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis, Encephalocele, Ab... ORPHA:65
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Band Heterotopia
Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral vent... OMIM:600348
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... ORPHA:98813
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Hydrocephalus, Renal agenesis, Renal hypoplasia, Umbilical hernia, Micropenis ORPHA:171839
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Cloacal Exstrophy
Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflux... ORPHA:93929
Craniotelencephalic Dysplasia
Lissencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Fronta... OMIM:218670
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hydronephrosis, Renal insufficiency OMIM:615996
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Simplified gyral pattern, Agenesis... OMIM:615095
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux, Tethered cord OMIM:617660
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia, Spinal dysraphism, Tethered cord OMIM:612918
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Cerebellar atrophy, Abnormality of neuronal migration, 4-layered lissencephal... ORPHA:89844
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Myelomeningocele, Spina bifida, Renal agenesis, Renal duplica... ORPHA:83628
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Decreased circulating IgG level, Decreased circulating total IgM, Agam... OMIM:300400
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Gray matter heterotopia, Dilated fourth ventricle,... OMIM:615960
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar cyst, Facial diplegia, Cerebellar atrophy, Gray matter heterotopia, Pachygyria ORPHA:370980
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Proboscis Lateralis
Duplication of renal pelvis, Ureteral agenesis, Holoprosencephaly, Unilateral renal agenesis ORPHA:141099
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Renal tubular acidosis, Renal cyst, Death in infancy, Renal hypop... OMIM:614922
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Hydrocephalus, Hydronephrosis, Spinal dysraphism,... ORPHA:1926
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Spina bifida 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 hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Death in childhood, Renal hypoplasia, Aminoaciduria, Lacticaciduria OMIM:604273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hydrocephalus, Facial palsy, Cerebellar dysplasia, Cerebellar hypop... OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Cerebellar hypoplasia, Abnormality of neuronal migration, Facial palsy, Pachygyria OMIM:608840
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Optic nerve hypoplasia, T... ORPHA:370959
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism, Apl... ORPHA:1908
Obesity And Hypopigmentation
Red hair OMIM:620195
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Even-Plus Syndrome
Recurrent urinary tract infections, Renal hypoplasia, Vesicoureteral reflux OMIM:616854
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra... ORPHA:93101
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Branchial cyst, Renal cyst OMIM:615583
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity ORPHA:277
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Syringomyelia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Sirenomelia
Renal hypoplasia/aplasia, Abnormality of the urinary system, Sirenomelia, Spina bifida ORPHA:3169
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux, Abnormal conus terminalis morphology ORPHA:464288
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Death in childhood, Encephalocele, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Optic... OMIM:614643
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Hematuria, Glomerulonephritis OMIM:314000
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen... ORPHA:322
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Periventricular heterotopia, Simplified gyra... OMIM:618273
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Cerebellar atrophy, Agenesis ... OMIM:614833
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis OMIM:617926
Intellectual Developmental Disorder, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar vermis hypoplasia, Polymicrogyria, Dilated fourth... OMIM:617751
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Meningocele ORPHA:588
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Distal Duplication 6P
Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgE, Partial absence of specific antibody response to tetanus vaccine, Decr... OMIM:619824
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus cal... OMIM:164180
Neu-Laxova Syndrome 2
Ventriculomegaly, Cerebellar hypoplasia, Spina bifida OMIM:616038
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar ... ORPHA:101070
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Anteriorly displaced urethral meatus, Horseshoe kidney OMIM:266810
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Ventriculomegaly, Spina bifida ORPHA:1120
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Death in infancy, Multicystic kidne... ORPHA:1393
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Ureteral agenesis, Hyperechogenic kidneys OMIM:617914
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Renal hypoplasia, Umbilical hernia, Renal dysplasia, Renal insufficiency ORPHA:85321
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Phakomatosis Pigmentokeratotica
Nephroblastoma, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Spina bifida ORPHA:2874
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... OMIM:619752
Periventricular Nodular Heterotopia 1
Cerebellar hypoplasia, Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Iniencephaly
Syringomyelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningo... ORPHA:63259
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Cerebellar hypoplasia, Periventricular heterotopia, Agenesis of corpus callosum ORPHA:255138
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level OMIM:618523
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hypospadias, Hydrocephalus, Renal cyst, Hydronephrosis, Umbilical hernia, Nephro... OMIM:312870
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis OMIM:247800
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea... OMIM:614376
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Neurocutaneous Melanocytosis
Syringomyelia, Meningocele, Dandy-Walker malformation, Chiari malformation, Ventriculomegaly, Apl... ORPHA:2481
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level OMIM:620603
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Gray matter hete... ORPHA:101030
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... ORPHA:169154
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Agenesis of ce... OMIM:611134
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:620532
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydronephrosis, Spina bifida, Hydranencephaly ORPHA:2839
Walker-Warburg Syndrome
Optic atrophy, Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Dandy-Walker malformatio... ORPHA:899
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Unilateral renal agenesis OMIM:618494
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Myeloma, Multiple
Paraproteinemia OMIM:254500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Encephalocele, Hydrocephalus, Type II lissencephaly, Death in infancy, Cerebella... OMIM:613150
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Abnormal cerebellum morphology, ... OMIM:300957
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
Vici Syndrome
Optic atrophy, Gray matter heterotopia, Death in infancy, Hypoplasia of the pons, Agenesis of cor... ORPHA:1493
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Umbilical hernia OMIM:618914
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Umbilical hernia, Spina bifida... ORPHA:261318
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Increased circulating IgE level, Hypoplasia of penis ORPHA:3409
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Hemimegalencephaly
Optic atrophy, Polymicrogyria, Gliosis, Gray matter heterotopia, Abnormal neuron morphology, Pach... ORPHA:99802
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele ORPHA:66637
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation, Umbilical hernia OMIM:619758
Emanuel Syndrome
Unilateral renal agenesis, Hydrocephalus, Recurrent urinary tract infections, Renal hypoplasia, M... OMIM:609029
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Cach Syndrome
Renal hypoplasia ORPHA:135
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Renal agenesis, Renal hypoplasia, Holoprosencephaly, Micropenis OMIM:264480
Schizophrenia 1
Renal agenesis, Ectopic kidney, Partially duplicated kidney OMIM:181510
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Duane-Radial Ray Syndrome
Spina bifida occulta, Vesicoureteral reflux, Renal agenesis, Renal hypoplasia, Hydronephrosis, Cr... OMIM:607323
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Renal hypoplasia ORPHA:254913
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
12Q14 Microdeletion Syndrome
Renal hypoplasia, Syringomyelia, Horseshoe kidney, Ectopic kidney ORPHA:94063
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level OMIM:619773
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly OMIM:601355
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:2772
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Netherton Syndrome
Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Hydronephr... ORPHA:634
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Pseudo-Torch Syndrome 2
Cerebellar hypoplasia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Vesicoureteral reflux, Horseshoe kidney, Abnormal renal morphology OMIM:609053
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Tethered cord,... ORPHA:268810
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... OMIM:308230
Pagod Syndrome
Renal hypoplasia/aplasia, Encephalocele, Meningocele, Spina bifida, Death in infancy, Multicystic... ORPHA:991
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis, Death in infancy OMIM:618845
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cerebellar hypoplasia, Neonatal death, Optic disc pallor, Death in infancy OMIM:613730
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Anterior pituitary hypoplasia, Retrocerebellar cyst, Agenesis of corp... ORPHA:1827
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Renal insufficiency, Tu... OMIM:617595
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Urethral valve, ... OMIM:236730
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:2518
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, D... ORPHA:370022
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Duplication Of Urethra
Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf... ORPHA:237
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Emanuel Syndrome
Hydrocephalus, Renal hypoplasia, Micropenis, Unilateral renal agenesis ORPHA:96170
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Decr... OMIM:618394
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Matthew-Wood Syndrome
Renal hypoplasia, Vesicoureteral reflux, Horseshoe kidney ORPHA:2470
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Holoprosencephaly 14
Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker malformation, Cerebell... OMIM:619895
Mosaic Trisomy 9
Hypoplasia of penis, Spina bifida, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Horsesh... ORPHA:99776
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:2512
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypoplasia, Hydroneph... OMIM:146510
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Hypospadias, Vesicoureteral reflux, Tethered cord, Spina... OMIM:192350
Stromme Syndrome
Hydrocephalus, Stillbirth, Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
Senior-Boichis Syndrome
Tubular luminal dilatation, Renal atrophy, Abnormal renal insterstitial morphology, Renal hypopla... ORPHA:84081
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261552
Neu-Laxova Syndrome
Dandy-Walker malformation, Spina bifida, Cerebellar hypoplasia, Ventriculomegaly, Abnormal cerebe... ORPHA:2671
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Renal hypoplasia, Neonatal death, Holoprosencephaly, Cystic renal dys... OMIM:269860
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Ectopic kidney, Hydrocephalus, Renal agenesis, Horseshoe kidney OMIM:602200
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Renal hypoplasia, Encephalocele, Renal cyst OMIM:616300
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... OMIM:613496
Nail-Patella Syndrome
Hematuria, Spina bifida, Nephrotic syndrome, Proteinuria, Renal insufficiency, Glomerulonephritis OMIM:161200
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter ORPHA:1035
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Aicardi Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Dilated third ventricle, Spina bifida, L... OMIM:304050
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Multiple glomerular cysts, Abn... OMIM:137920
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Renal agenesis, Rena... OMIM:617666
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Polymicrogyria, Hydrocephalus, Abnormality of neuronal migration, P... ORPHA:157
Microphthalmia, Syndromic 9
Pelvic kidney, Renal hypoplasia, Hydronephrosis, Neonatal death, Renal malrotation, Horseshoe kidney OMIM:601186
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Death in infancy OMIM:618240
Meckel Syndrome, Type 2
Dandy-Walker malformation, Anencephaly, Encephalocele, Meningocele OMIM:603194
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Acute kidney injury, Hematuria, Paraproteinemi... ORPHA:329918
Fanconi Anemia, Complementation Group O
Miscarriage, Renal cyst, Death in infancy, Hydronephrosis, Neonatal death, Stage 5 chronic kidney... OMIM:613390
Marden-Walker Syndrome
Renal hypoplasia, Micropenis, Hypospadias OMIM:248700
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Umbilical hernia, Spina bifida OMIM:613776
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Atrophy of the spinal cord, Ab... ORPHA:49
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Tethered cord, Myelomeningocele OMIM:620141
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Tethered cord, Myelome... OMIM:600145
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:619510
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasi... ORPHA:2842
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Epispadias, Hypospadias, Encephalocele, Abnormal penis morphology, Exencephaly ORPHA:2211
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Polymicrogyria, Partial agenesis of the corpus callosum, Gray matte... OMIM:619775
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Tethered cord, Renal cyst, Renal hypoplasia, Hydrone... OMIM:618460
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Spina bifida, Hydronephrosis, Umbilical hernia, Multicystic kidney dysp... ORPHA:2092
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Increased circulating antibody level, Nephropathy ORPHA:100024
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... OMIM:615816
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Joubert Syndrome
Aganglionic megacolon, Encephalocele, Cerebellar vermis hypoplasia, Polymicrogyria, Hydrocephalus... ORPHA:475
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Decreased circulating IgA level, Decreased specific anti-polysac... OMIM:606367
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Hydrocephalus, Renal cyst, Abnormality of the ureter, Hydronephrosis, A... ORPHA:1834
Trisomy 18
Anencephaly, Abnormality of the upper urinary tract, Spina bifida, Hydronephrosis, Holoprosencephaly ORPHA:3380
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Chiari type I malformation, Hydrocephalus, Dandy-Walker malformation, Agenesis of ... OMIM:618476
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Cerebellar hypoplasia, Neonatal death OMIM:618810
Rauch-Steindl Syndrome
Miscarriage, Hyperechogenic kidneys, Bilateral renal hypoplasia OMIM:619695
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Decreased circulating total IgM, Increased circulating IgE level OMIM:243700
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Igg4-Related Kidney Disease
Enlarged kidney, Increased circulating IgG4 level, Urinary bladder inflammation, Acute kidney inj... ORPHA:449395
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Unilateral renal agenesis, Micropenis, Ectopic kidney OMIM:616541
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of... ORPHA:2318
Fanconi Anemia, Complementation Group F
Pelvic kidney, Vesicoureteral reflux, Renal hypoplasia, Microphallus OMIM:603467
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Dysuria, Nephrotic syndrome, R... ORPHA:49041
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Bladder Exstrophy
Epispadias, Hypoplasia of penis, Recurrent urinary tract infections, Vesicoureteral reflux, Abnor... ORPHA:93930
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebellar vermis atrophy, Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Optic nerve hyp... OMIM:236670
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Colpocephaly,... OMIM:615219
Congenital Myopathy 17
Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction OMIM:618975
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis, Umbilical hernia OMIM:618454
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Spina bifida occulta, Meningocele, Abnormality of the ureter, Umbilical hernia ORPHA:2311
Fanconi Anemia, Complementation Group L
Hydrocephalus, Renal hypoplasia, Micropenis, Unilateral renal agenesis OMIM:614083
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity, Chronic kidney disease, Tubuloi... ORPHA:330015
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Renal cyst OMIM:611561
Aspergillosis
Increased circulating IgE level ORPHA:1163
Poland Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Encephalocele, Spina bifida ... ORPHA:2911
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomenin... ORPHA:2369
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Glomerulonephritis OMIM:304790
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Meningocele ORPHA:1759
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Immunodeficiency 64 With Lymphoproliferation
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgA level,... OMIM:618534
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Renal hypoplasia, Vesicoureteral reflux, Unilateral renal agenesis, Umbilical hernia OMIM:620654
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Absent specific antibody response, Decreased circulating total I... OMIM:102700
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... ORPHA:449432
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Spinal cord compression, Hypospadias, Abnormality of the ureter ORPHA:2522
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Incr... ORPHA:3261
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malforma... OMIM:615287
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasi... OMIM:614424
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Pelvic kidney, Spina bifida, Renal agenesis, Renal hypoplasia, Horseshoe kidney ORPHA:508498
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Dandy-Walker malformation, Gray matter heterotopia, Cerebellar dysplasia, Cerebell... OMIM:617822
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:508533
Thrombocytopenia-Absent Radius Syndrome
Renal malrotation, Syringomyelia, Ureteral duplication, Vesicoureteral reflux, Spina bifida, Deat... OMIM:274000
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Meningocele, Tethered cord, Hydronephrosis, Multicystic kidney dysplasia OMIM:620511
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Aminoaciduria OMIM:617913
Silver-Russell Syndrome 1
Hypospadias, Abnormality of the ureter, Urethral valve, Congenital posterior urethral valve, Neph... OMIM:180860
Molybdenum Cofactor Deficiency, Complementation Group C
Hypoplasia of the pons, Cerebellar hypoplasia, Neonatal death, Polymicrogyria OMIM:615501
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Lhermitte-Duclos Disease
Enlarged cerebellum, Polymicrogyria, Hydrocephalus ORPHA:65285
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Pgm3-Cdg
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgA level... ORPHA:443811
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Polymicrogyria, Hydrocephalus, Abnormality of neuronal migration, P... ORPHA:228308
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Renal hypoplasia/aplasia, Abnormality of the ureter ORPHA:1770
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Gliosis ORPHA:457240
O'Sullivan-Mcleod Syndrome
Tremor, Increased circulating antibody level ORPHA:99965
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Small placenta, Hydranencephaly, Dandy-Walker malformation, Spi... OMIM:256520
3C Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation, Death in infancy, Abnormality of neurona... ORPHA:7
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... ORPHA:397715
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Wildervanck Syndrome
Meningocele ORPHA:3456
Humero-Radial Synostosis
Meningocele ORPHA:3265
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Increased circulating antibody level OMIM:615285
Andersen-Tawil Syndrome
Renal hypoplasia, Renal tubular dysfunction ORPHA:37553
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydrocephalus, Hydronephrosis, Neonatal death, Urethral atresia OMIM:314390
Primary Hyperoxaluria Type 2
Hyperoxaluria, Recurrent urinary tract infections, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ventriculomegaly, Meningocele ORPHA:2031
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias OMIM:601390
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age... ORPHA:3027
Tetrasomy 15Q26
Hydrocephalus, Syringomyelia, Hydronephrosis, Horseshoe kidney OMIM:614846
Cerebrofacioarticular Syndrome
Renal hypoplasia, Hypospadias ORPHA:314679
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Triploidy
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:3376
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Fibular Hemimelia
Renal dysplasia, Spina bifida ORPHA:93323
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Dural ectasia, Chiari type I malformation,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Dural ectasia, Chiari type I malformation,... ORPHA:363958
Cornelia De Lange Syndrome 1
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Renal ... OMIM:122470
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level ORPHA:2314
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased circulating complement C3 concentration, Absent isohemagglutinin level, Increased circu... OMIM:615559
Curry-Jones Syndrome
Chiari type I malformation, Lipomyelomeningocele, Occipital meningocele, Agenesis of corpus callo... OMIM:601707
Van Maldergem Syndrome 2
Renal hypoplasia, Micropenis, Hypospadias OMIM:615546
6Q Terminal Deletion Syndrome
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Colpocephaly, Cerebel... ORPHA:75857
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Fanconi Anemia
Renal hypoplasia/aplasia, Hydroureter, Abnormal preputium morphology, Hypospadias, Abnormality of... ORPHA:84
Alg3-Cdg
Hypoplasia of the pons, Dandy-Walker malformation, Neural tube defect ORPHA:79321
Ureterocele
Ureterocele, Duplicated collecting system OMIM:191650
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Jacobsen Syndrome
Death in infancy, Hydronephrosis, Multicystic kidney dysplasia, Spina bifida ORPHA:2308
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,... OMIM:618213
Immunodeficiency 22