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 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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

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
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Book Syndrome
Premature graying of hair OMIM:112300
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Gray matt... OMIM:604213
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebral morphology, Small cerebral cortex, Abnormal cerebellum morphology, Simplified g... ORPHA:329228
Lissencephaly 1
Agyria, Cerebellar hypoplasia, Gray matter heterotopia, Subcortical band heterotopia, Lissencepha... OMIM:607432
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Microlissencephaly
Cerebral dysmyelination, Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia... ORPHA:1083
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:615544
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Lissencephaly, Pachygyria OMIM:614499
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Pachygyria, Gray matter heterotopia, Subcortical band heterotopia OMIM:615412
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida, Hypospadias ORPHA:3176
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Cerebellar hypoplasia, Microcephaly, Optic atrophy, Periventricular nodular heterotopia OMIM:618572
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
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly, Pachygyria OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Cerebellar hypoplasia, Lissencephaly, Thick cerebral cortex, Hypoplasia of the corpus callosum, H... OMIM:618677
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Lissencephaly, Pachyg... OMIM:611603
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, E... ORPHA:1931
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Frontoparietal c... OMIM:610031
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Cerebellar atrophy, Microcephaly, Lissencephaly, Pachygyria, Hypoplasia of the ... OMIM:618730
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Simplified gyral pattern, Lissencephaly, Micr... OMIM:614019
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Occipital encephalocele, Gray matter heterotopia, Dysgyria, Hydrocephalus,... ORPHA:352682
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebral atrophy, Cerebellar atrophy, Corpus callosum atrophy OMIM:615268
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Microcephaly, Polymicrogyria, Cortical dysplasia OMIM:615771
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Porencephalic cyst, Gray matter heterotopia, Subcortical ... OMIM:615191
Developmental And Epileptic Encephalopathy 76
Cerebral atrophy, Cerebellar atrophy, Death in childhood, Microcephaly, Periventricular white mat... OMIM:618468
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebral atrophy, Cerebellar atrophy, Microcephaly, Hypoplasia of the corpus callosum, Hypoplasia... OMIM:618973
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... ORPHA:300573
Acalvaria
Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:945
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Progressive microcephaly, Simplified gyral pattern, Microcephaly, Hypoplasia ... OMIM:613402
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Simplified gyral pattern, Lissencephaly, Pachygyria, Polymicrogyria, Abn... OMIM:604317
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Spastic Paraplegia 32, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Hypoplasia of the corpus callosum OMIM:611252
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalencephaly, Hydrocephalus, Polymicro... OMIM:615937
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebral atrophy, Cerebellar atrophy, Diffuse swelling of cerebral white matter, Megalencephaly, ... OMIM:613925
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Cerebellar atrophy, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy OMIM:611726
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Renal dysplasia, Neonatal death... OMIM:236500
Joubert Syndrome 13
Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar hypoplasia, Microcephaly, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum OMIM:618325
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Microcephaly, Cerebellar atrophy OMIM:615596
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Deat... OMIM:613153
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Microcephaly, Simplifi... OMIM:608716
Caudal Duplication
Myelomeningocele, Ureteral duplication, Abnormal penis morphology, Spina bifida, Renal hypoplasia... ORPHA:1756
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Microcephaly, Cortical dysplasia, Hydrocephalus, Abnormality... OMIM:618709
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar hypoplasia, Cerebellar dysplasia, Perisylvian polymicrogyria, Cerebellar vermis hypopl... OMIM:616531
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebral atrophy, Cerebellar atrophy OMIM:616192
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Proteinuria, Renal hypo... OMIM:611555
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Cerebellar atrophy, Perisylvian polymicrogyria, Death in childhood, Thick corpu... OMIM:619605
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Cerebellar cyst, Gray matter heterotopia, Microcephaly, Pachygyria, Facial di... ORPHA:370980
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal ... ORPHA:101029
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Band Heterotopia
Agenesis of corpus callosum, Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus... OMIM:600348
Lissencephaly, X-Linked, 1
Agyria, Lissencephaly, Pachygyria, Gray matter heterotopia OMIM:300067
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Gordon Holmes Syndrome
Cerebral atrophy, Cerebellar atrophy OMIM:212840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Optic nerve ... OMIM:615181
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Gray matter heterotopia, Abnorma... OMIM:615960
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Periventricular leukomalacia, Leukoencephalopathy, Progressive leukoencephalo... OMIM:615889
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Agenesis of corpus callosum, Chiari malformation, Spina bifida, ... OMIM:207950
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Cerebellar atrophy OMIM:600143
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Nescav Syndrome
Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Microcephaly, Optic atrophy OMIM:614255
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgG level OMIM:618944
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Microcephaly, Cerebellar atrophy OMIM:618741
Lissencephaly 2
Cerebellar hypoplasia, Microcephaly, Lissencephaly, Thick cerebral cortex, Hypoplasia of the pons... OMIM:257320
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebell... OMIM:617751
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Cerebral cortical atrophy, Progressive microcephaly, Hypoplasia of the corpus... OMIM:617862
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Intellectual Developmental Disorder, Autosomal Dominant 13
Cerebellar hypoplasia, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Abnormality o... OMIM:614563
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Iron accumulation in globus pallidus, Cerebellar vermis atrophy, Optic disc p... OMIM:619389
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Amish Lethal Microcephaly
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Lissencephaly, Spina bifida, Cerebel... ORPHA:99742
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Cerebellar atrophy OMIM:610003
Leukodystrophy, Hypomyelinating, 14
Microcephaly, Cerebral atrophy, Cerebellar atrophy OMIM:617899
Vacterl Association With Hydrocephalus
Renal hypoplasia, Aqueductal stenosis, Stillbirth, Hydrocephalus OMIM:276950
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Progressive microcephaly, Periventricular nodular heterotopia, Periventricular heterotopia, Micro... OMIM:608097
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Renal hypoplasia, Renal cyst OMIM:228940
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Cerebellar atrophy, Cortical dysplasia OMIM:608278
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Cerebral dysmyelination, Abnormal cerebellum morphology, Microcephaly, Cort... ORPHA:101070
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cerebellar atrophy, Simplified gyral pattern, Microcephaly, Optic disc pallor, ... OMIM:616171
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Abnormal periventricular white ma... OMIM:613811
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia, Cortical dysplasia, Hypoplasia of t... OMIM:617201
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Spinocerebellar Ataxia, Autosomal Recessive 27
Gliosis, Cerebral atrophy, Cerebellar atrophy OMIM:618369
Peho-Like Syndrome
Cerebellar atrophy, Progressive microcephaly, Lissencephaly, Pachygyria, Hypoplasia of the corpus... OMIM:617507
Bresek Syndrome
Renal hypoplasia, Renal dysplasia, Hypoplasia of the bladder, Hydrocephalus, Neonatal death, Vesi... ORPHA:85284
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons, Death in infancy, Optic atrophy OMIM:619303
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal cerebellum morphology OMIM:615362
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microce... OMIM:616212
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Simplified gyral pattern, Micro... OMIM:617090
Joubert Syndrome 23
Cerebellar dysplasia, Dysplastic corpus callosum OMIM:616490
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Cerebellar hypoplasia, Pachygyria, Abnormal periventricular white matter morphology, Facial palsy... OMIM:608840
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Ureteral atresia, Hydronephrosis, Hydrocephalus, Spina bifida occulta OMIM:183802
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Cerebellar atrophy, Agenesis of corpus callosum, Primary microcephaly, Hy... ORPHA:89844
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly OMIM:616342
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Kimura Disease
Increased circulating IgE level ORPHA:482
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Scalp-Ear-Nipple Syndrome
Pyelonephritis, Ureteral duplication, Abnormality of the kidney, Duplication of renal pelvis, Rec... ORPHA:2036
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Cerebellar hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Fac... OMIM:613155
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication ORPHA:457212
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Dystonia 23
Cerebellar atrophy, Cerebral cortical atrophy OMIM:614860
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Cerebellar hypoplasia, Ventriculomegaly, Hydrocephalus OMIM:614830
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Cerebellar atrophy, Hypoplasia of the corpus callosum OMIM:617916
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
15q26 overgrowth syndrome
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the kidney, Duplication of renal... DECIPHER:81
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Micropenis, Renal hypoplasia, Hydrocephalus, Umbilical hernia, Hypospadias ORPHA:171839
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Cerebellar hypoplasia, Simplified gyral pattern, Partial agenesis of... OMIM:619302
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia OMIM:212780
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Renal hypoplasia, Tethered cord, Vesicoureteral reflux OMIM:617660
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of the optic disc, Abnormality of neuron... ORPHA:65
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the p... OMIM:619301
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul... OMIM:617241
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal encephalocele... OMIM:218670
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebellar hypoplasia, Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Cerebra... OMIM:619072
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease OMIM:617661
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Cerebellar hypoplasia, Occipital encephalocele, Anencephaly, Optic n... OMIM:615287
Schisis Association
Renal agenesis, Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Spinocerebellar Ataxia 23
Cerebellar atrophy, Agenesis of corpus callosum OMIM:610245
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar hypoplasia, Cerebellar atrophy, Simplified gyral pattern, Pachygyria OMIM:224050
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Microcephaly, Cerebellar atrophy, Optic atrophy OMIM:617086
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Hypoplasia of the corpus callosum OMIM:616948
Nevus Comedonicus Syndrome
Microcephaly, Spina bifida, Spina bifida occulta ORPHA:64754
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Abnormal substantia nigra morphology, Cerebral white matter atrophy, ... ORPHA:98756
Hemimegalencephaly
Focal cortical dysplasia, Hyperintensity of cerebral white matter on MRI, Gray matter heterotopia... ORPHA:99802
Czeizel-Losonci Syndrome
Myelomeningocele, Hydronephrosis, Ureteral agenesis, Spina bifida, Abnormality of the urinary sys... ORPHA:2437
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Cerebellar atrophy, Periventricular leukomalacia, Hydrocephalus OMIM:618302
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Microcephaly, Gliosis, Abnormality of neuronal migration, Abnorma... OMIM:300957
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Proboscis Lateralis
Unilateral renal agenesis, Holoprosencephaly, Duplication of renal pelvis, Ureteral agenesis ORPHA:141099
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Type II lissencephaly, Cerebellar malfo... ORPHA:324416
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Redu... OMIM:300400
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Cerebellar cyst, Dilated fourth ventricle, Cerebellar hypoplasia, Agenesis... ORPHA:370959
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Pachygyria,... ORPHA:168486
Lumbar Syndrome
Renal agenesis, Myelomeningocele, Renal duplication, Micropenis, Bladder exstrophy, Hypospadias, ... ORPHA:83628
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Cerebral cortical atrophy, Optic atrophy OMIM:619425
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Cloacal Exstrophy
Ectopic kidney, Myelomeningocele, Horseshoe kidney, Renal hypoplasia/aplasia, Bladder exstrophy, ... ORPHA:93929
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Microcephaly, Abnormality of neuronal migration ORPHA:1980
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Cerebellar atrophy, Agenesis of corpus callosum, Optic nerve hypoplas... OMIM:614833
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Cerebellar atrophy OMIM:607250
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Agenesis of corpus callosum, Cerebellar hypoplasia, Periventricular hetero... ORPHA:255138
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly, Spinal dysraphism, Hydrocep... ORPHA:1908
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function ORPHA:277
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dyspl... OMIM:617622
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Hydronephrosis, Renal hypoplasia OMIM:618494
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Progressive microcephaly, Cerebellar vermis atrophy, Simplified gyral pattern, ... OMIM:615760
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Microcephaly, Hypoplasia of the c... OMIM:613477
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Syringomyelia, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Ureteral agenesis OMIM:274210
Crome Syndrome
Microcephaly, Cerebellar dysplasia OMIM:218900
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Oligomeganephronia
Unilateral renal agenesis, Branchial cyst, Abnormality of medullary pyramid morphology, Decreased... ORPHA:2260
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Oculocerebrocutaneous Syndrome
Agenesis of corpus callosum, Gray matter heterotopia, Dandy-Walker malformation, Orbital encephal... OMIM:164180
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Urethral obstruction, Renal dysplasia, Hypertrophy of the urinary bladder OMIM:601389
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency OMIM:201310
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency, Death... OMIM:614922
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Hydronephrosis, Spinal dysraphism, Hy... ORPHA:1926
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Microcephaly, Dandy-Walker malformation, Agenesis... OMIM:611134
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Microcephaly, Cerebral cortical atrophy, Abnormality of neuronal migration, Aplasia/Hypoplasia of... ORPHA:2518
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Ventriculomegaly, Microcepha... OMIM:225790
Symmetrical Thalamic Calcifications
Cerebral calcification, Microcephaly, Abnormality of neuronal migration ORPHA:1314
Lipoyltransferase 1 Deficiency
Death in infancy, Cerebellar atrophy, Abnormal cerebral white matter morphology OMIM:616299
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cerebral atrophy, Cerebellar atrophy OMIM:614482
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Exstrophy-Epispadias Complex
Hydrocephalus, Abnormality of the ureter, Horseshoe kidney, Bifid penis, Bladder fistula, Renal d... ORPHA:322
Mitochondrial Dna Depletion Syndrome 17
Cerebral atrophy, Cerebellar atrophy, Hemiballismus, Death in childhood OMIM:618567
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Abnormal conus terminalis morphology, Vesicoureteral reflux ORPHA:464288
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Isolated Klippel-Feil Syndrome
Spina bifida, Renal hypoplasia/aplasia ORPHA:2345
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Hematuria OMIM:314000
Ceroid Lipofuscinosis, Neuronal, 10
Microcephaly, Cerebral atrophy, Cerebellar atrophy, Neonatal death OMIM:610127
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux OMIM:616854
Distal Trisomy 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Cerebellar hypoplasia, Periventricular heterotopia, Abnormal periven... OMIM:618476
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgE level OMIM:619632
Walker-Warburg Syndrome
Abnormal cortical gyration, Agenesis of corpus callosum, Optic atrophy, Cerebellar hypoplasia, Da... ORPHA:899
Galloway-Mowat Syndrome 10
Cerebral atrophy, Cerebellar atrophy, Primary microcephaly, Simplified gyral pattern, Microcephal... OMIM:619609
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia OMIM:617926
Urocanase Deficiency
Fair hair, Blue irides OMIM:276880
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Periventricular nodular heterotopia, Hypopituitarism, Retrocerebella... OMIM:603671
Meckel Syndrome 12
Renal agenesis, Renal hypoplasia, Ureteral hypoplasia OMIM:616258
Iniencephaly
Myelomeningocele, Syringomyelia, Anencephaly, Dandy-Walker malformation, Lissencephaly, Spina bif... ORPHA:63259
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Hypoplasia of penis, Renal dysplasia, Renal insufficiency, Umbilical hernia ORPHA:85321
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Leukoencephalopathy, Optic atrophy OMIM:236792
Sirenomelia
Spina bifida, Abnormality of the urinary system, Renal hypoplasia/aplasia, Sirenomelia ORPHA:3169
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Anteriorly displaced urethral meatus, Horseshoe kidney OMIM:266810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Hydrocephalus, Subcortical heterotopia, Cerebellar hypoplasia, Optic nerve hypoplasia, Gr... OMIM:614643
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Microcephaly 10, Primary, Autosomal Recessive
Microcephaly, Cerebral atrophy, Cerebellar atrophy, Gliosis OMIM:615095
Fanconi Anemia, Complementation Group L
Micropenis, Renal hypoplasia, Hydrocephalus OMIM:614083
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:619752
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy... ORPHA:33445
Igg4-Related Aortitis
Increased circulating IgG4 level, Hydronephrosis, Increased circulating antibody level, Complemen... ORPHA:449400
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Developmental And Epileptic Encephalopathy 93
Cerebral atrophy, Cerebellar atrophy, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy OMIM:618012
Muscle-Eye-Brain Disease
Holoprosencephaly, Meningocele, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:588
Subependymal Nodular Heterotopia
Myelomeningocele, Focal cortical dysplasia, Occipital encephalocele, Nasofrontal encephalocele, G... ORPHA:101030
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Decreased motor nerve conduction velocity, Cerebral atrophy, Cerebellar atrophy, Facial palsy OMIM:601170
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Vici Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Gray matter heterotopia, Cerebral cortical at... ORPHA:1493
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Renal cyst, Hydronephrosis, Duplication of renal pelvis, Nephroblastoma, Hydroce... OMIM:312870
Pontocerebellar Hypoplasia, Type 2B
Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Cerebellar hypoplasia, Microcepha... OMIM:612389
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis OMIM:247800
Meckel Syndrome, Type 2
Renal cyst, Meningocele, Anencephaly, Encephalocele OMIM:603194
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Agenesis of corpus callosum, Cerebellar cyst, Cerebellar hypoplasia, Microc... OMIM:613150
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Congenital Disorder Of Glycosylation, Type Iii
Microcephaly, Cerebral atrophy, Cerebellar atrophy OMIM:613612
Cerebrocostomandibular Syndrome
Myelomeningocele, Hydranencephaly, Multicystic kidney dysplasia, Spina bifida, Death in infancy, ... ORPHA:1393
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Renal hypoplasia, Glomerulonephritis, Chronic tubulointerstitial nephritis, Stage 5 ... OMIM:614376
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Abnormal eyelash morphology, Pol... ORPHA:3437
Hemihyperplasia, Isolated
Myelomeningocele, Nephroblastoma OMIM:235000
Burn-Mckeown Syndrome
Renal hypoplasia OMIM:608572
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Polymicrogyria, Neonatal death OMIM:619602
Neurocutaneous Melanocytosis
Syringomyelia, Chiari malformation, Ventriculomegaly, Dandy-Walker malformation, Aplasia/Hypoplas... ORPHA:2481
Familial Infantile Myoclonic Epilepsy
Thick cerebral cortex, Cerebellar atrophy, Abnormal hippocampus morphology, Periventricular nodul... ORPHA:352582
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgG level, Increased circulating IgA level, Increased circulating antibody ... ORPHA:169154
Craniosynostosis 6
Cerebellar atrophy, Abnormal corpus callosum morphology, Agenesis of corpus callosum, Dandy-Walke... OMIM:616602
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly OMIM:601355
Pseudotrisomy 13 Syndrome
Renal agenesis, Micropenis, Renal hypoplasia, Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Ventriculomegaly ORPHA:1120
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level OMIM:618523
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level OMIM:147060
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Cerebellar hypoplasia, Ventriculomegaly, Micr... ORPHA:2671
Myeloma, Multiple
Paraproteinemia OMIM:254500
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Bifid ureter, Horseshoe kidney, Decrea... OMIM:617641
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Death in infancy, Hydroureter OMIM:618240
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis, Increased circulating IgE level ORPHA:3409
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Umbilical hernia OMIM:618914
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgG level, Increased circulating IgE level OMIM:243700
Camptodactyly Syndrome, Guadalajara Type 1
Microcephaly, Spina bifida ORPHA:1327
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Renal hypoplasia, Aminoaciduria OMIM:617913
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Ureteral duplication, Renal insufficie... ORPHA:3027
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Duane-Radial Ray Syndrome
Renal agenesis, Horseshoe kidney, Renal malrotation, Crossed fused renal ectopia, Hydronephrosis,... OMIM:607323
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1046
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Agenesis of corpus callosum, Ventriculomegaly, Partial agenesis ... ORPHA:1136
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Sabinas Brittle Hair Syndrome
Brittle hair, Nail dysplasia, Nail dystrophy, Sparse hair, Dry hair OMIM:211390
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Gray matter heterotopia, Microcepha... ORPHA:2512
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Abnormal renal morphology OMIM:609053
Brain Small Vessel Disease 2
Schizencephaly, Subcortical heterotopia, Porencephalic cyst, Polymicrogyria OMIM:614483
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
12Q14 Microdeletion Syndrome
Renal hypoplasia, Ectopic kidney, Syringomyelia, Horseshoe kidney ORPHA:94063
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Schizophrenia 1
Renal agenesis, Ectopic kidney, Partially duplicated kidney OMIM:181510
Molybdenum Cofactor Deficiency, Complementation Group C
Cerebellar hypoplasia, Hypoplasia of the pons, Neonatal death, Polymicrogyria OMIM:615501
Lhermitte-Duclos Disease
Enlarged cerebellum, Polymicrogyria, Hydrocephalus ORPHA:65285
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Aganglionic megacolon, Hydrocephalus, Polymicrogyria, ... ORPHA:475
Cach Syndrome
Renal hypoplasia ORPHA:135
Pseudo-Torch Syndrome 2
Cerebral calcification, Cerebellar hypoplasia, Gray matter heterotopia, Microcephaly, Polymicrogy... OMIM:617397
Pelvis-Shoulder Dysplasia
Hydronephrosis, Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Micropenis, Hydronephrosis, Renal hypoplasia, Holoprosencephaly, Rena... OMIM:146510
Isolated Hemihyperplasia
Myelomeningocele, Nephroblastoma ORPHA:2128
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Fraser Syndrome 2
Renal agenesis, Renal hypoplasia, Aplasia of the bladder OMIM:617666
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Gray matt... OMIM:617822
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar dysplasia, Cerebellar hypoplasia, Microcephaly, Abnormal periventricular white matter ... ORPHA:500159
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Decreased circulating antibody level, Aminoaciduria, Increased ci... ORPHA:634
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Inferior cerebellar vermis hypop... ORPHA:370022
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Abnormality of the kidney, Abnormal localization of ki... ORPHA:261318
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Micropenis, Hydrocephalus ORPHA:96170
Emanuel Syndrome
Micropenis, Renal hypoplasia, Renal agenesis OMIM:609029
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Hydronephrosis, Renal hypoplasia, Umbilical hernia, Microphallus, Vesicoureteral reflux OMIM:618454
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Aganglionic megacolon, Hydrocephalus, Abnormality of n... ORPHA:2318
Matthew-Wood Syndrome
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux ORPHA:2470
Acromelic Frontonasal Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Retrocerebellar cyst, Hypopituitarism... ORPHA:1827
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Microcephaly, Cerebellar dysplasia, Decreased response to growth hormone stimulation test, Gliosis ORPHA:457240
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Abnormal neuron morphology, Abnormality of neuronal migration, Cere... ORPHA:163681
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Death in infancy, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Pachygyria... ORPHA:157
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Gray matter heterotopia, Simplified gyral pattern, Lis... OMIM:615219
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:618394
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ectopic kidney, Horseshoe kidney, Ureteral duplication, Hydrocephalus OMIM:602200
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... ORPHA:84081
Alg3-Cdg
Abnormal cerebral morphology, Cerebral white matter atrophy, Microcephaly, Dandy-Walker malformat... ORPHA:79321
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter ORPHA:1035
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Tethered cord, Renal hypoplasia/aplasia OMIM:612918
Myopathy With Extrapyramidal Signs
Cerebellar dysplasia, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the internal caps... OMIM:615673
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia, Stillbirth, Hydrocephalus OMIM:243605
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy OMIM:619405
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Nephrolithiasis, Decreased numbers of nephrons... OMIM:137920
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Urofacial Syndrome 1
Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infections, Hydroureter, ... OMIM:236730
Pagod Syndrome
Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Death in infancy, Meningoce... ORPHA:991
Aicardi Syndrome
Cavum septum pellucidum, Dilated third ventricle, Chiari malformation, Microcephaly, Partial agen... OMIM:304050
6P22 Microdeletion Syndrome
Hydronephrosis, Hydrocephalus ORPHA:251046
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Renal hypoplasia, Anencephaly, Hydrocephalus, Neonatal death, Holoprosenc... OMIM:269860
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614091
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Renal duplication, Micropenis, Hydronephrosis, Hypospadias, Duplication of renal pelvis,... ORPHA:261552
Posterior Meningocele
Occipital meningocele, Chiari malformation, Lipomyelomeningocele, Neural tube defect, Tethered co... ORPHA:268810
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Encephalocele OMIM:616300
Immunodeficiency 14A, Autosomal Dominant
Decreased circulating IgG2 level, Decreased specific pneumococcal antibody level, Increased circu... OMIM:615513
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level OMIM:618495
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Hypospadias OMIM:248700
Penile Agenesis
Fetal pyelectasis, Urethral atresia, male, Cystic renal dysplasia, Atrophy of the spinal cord, Ur... ORPHA:49
Duplication Of Urethra
Bladder duplication, Penile hypospadias, Chordee, Unilateral renal hypoplasia, Dysuria, Micropeni... ORPHA:237
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
C3 Glomerulopathy
Decreased serum complement C4, Nephrotic syndrome, Paraproteinemia, Proteinuria, Acute kidney inj... ORPHA:329918
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Hypoplasia of penis, Spina bifida, Renal dysplasia, Multiple re... ORPHA:99776
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida, Arrhinencephaly ORPHA:3412
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Penoscrotal Transposition
Renal agenesis, Abnormality of the ureter, Renal dysplasia, Abnormality of the urethra, Hypospadi... ORPHA:2842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Cerebellar dysplasia, Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, ... OMIM:236670
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localiz... ORPHA:1834
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, St... OMIM:191800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Diffuse mesangial sclerosis, Decreased circulating IgA level, Ab... OMIM:102700
Mu-Heavy Chain Disease
Increased circulating antibody level, Bence Jones Proteinuria, Nephropathy ORPHA:100024
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Decreased... OMIM:606367
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:619510
Oculocutaneous Albinism Type 1
White eyebrow, Blue irides, White eyelashes, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Pachygyria... ORPHA:228308
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Dystonia, Nephrotic syndrome OMIM:615846
Humero-Radial Synostosis
Microcephaly, Meningocele ORPHA:3265
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Unilateral renal hypoplasia, Acute kidney injury, Dysuria, Hydronephrosis, He... ORPHA:49041
Prune Belly Syndrome
Abnormality of the ureter, Renal insufficiency, Multicystic kidney dysplasia, Congenital posterio... ORPHA:2970
Igg4-Related Kidney Disease
Decreased serum complement C4, Proteinuria, Hydronephrosis, Membranous nephropathy, Urinary bladd... ORPHA:449395
Bladder Exstrophy
Abnormality of the ureter, Bladder exstrophy, Hypoplasia of penis, Recurrent urinary tract infect... ORPHA:93930
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Pelvic kidney, Vesicoureteral reflux OMIM:603467
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Exencephaly, Epispadias, Hypospadias, Encephalocele ORPHA:2211
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Spina bifida, Renal insufficiency OMIM:161200
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney, Micropenis OMIM:616541
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level OMIM:313900
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Cerebellar atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Periven... ORPHA:468631
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal malrotation, Hydronephrosis, Renal hypoplasia, Pelvic kidney OMIM:601186
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Nephropathy, Decreased specific... OMIM:600903
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Renal cyst, Ureteral atresia, Hydronephrosis, Renal hypoplasia, Multic... OMIM:614527
Poland Syndrome
Renal hypoplasia, Hypospadias, Ureterocele, Duplicated collecting system, Renal hypoplasia/aplasi... ORPHA:2911
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Cerebellar hypoplasia, Dysplastic corpus callosum, Neonatal death OMIM:618810
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Increased circulating IgG level, Increased circulating ... OMIM:615816
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Cerebellar h... ORPHA:397715
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Vater/Vacterl Association
Renal agenesis, Ectopic kidney, Occipital encephalocele, Hydronephrosis, Hypospadias, Patent urac... OMIM:192350
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Ocular albinism, Iris hypopigmentation, Irr... ORPHA:999
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies