Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Rho GTPase activating protein 35
Synonyms:
P190 RhoGAP,  6430596G11Rik,  p190RhoGAP,  p190A,  Grlf1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Arhgap35 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 Arhgap35 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Cerebral atrophy, Microphthalmia, Microcephaly, Optic atrophy, Agenesis of corpus callosum OMIM:274270
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Dysplastic corpus cal... OMIM:604213
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microphthalmia, Mic... ORPHA:1528
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Renal dysplasia, Neonatal death, Hydranencephaly, Renal cyst, Urete... OMIM:236500
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Unilateral renal agenesis OMIM:601355
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Caudal Duplication
Spina bifida, Abnormal penis morphology, Spinal cord lesion, Renal hypoplasia/aplasia, Ureteral d... ORPHA:1756
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Death in infancy, Unilateral renal agenesis OMIM:618845
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Optic atrophy, Agenesis of corpus call... OMIM:617669
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Retinal dysplasia, Polymicrogyria, Cortical d... OMIM:615771
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Microph... OMIM:218670
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth, Hydrocephalus, Aqueductal stenosis OMIM:276950
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Coloboma, Abnormal cerebral white... OMIM:613153
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Coloboma, Ventriculomegaly, Retinal dysplasia, Microphthalmia, Hydrocephalus ORPHA:324416
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:611603
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Microphthalmia, Simplified gyral pattern, Intrauterine growth ... OMIM:616171
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Arthrogryposis multiplex congenita, Frontal cortical atrophy, Parietal cortical atrophy, Microcep... OMIM:618766
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Pachygyria, Chorioretinal ... OMIM:251270
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Small cerebral cortex... OMIM:608716
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the brainstem, Type II lissencephaly, Coloboma,... ORPHA:370959
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Type II lissencephaly, Hypoplasia of the corpus callosum, Cerebellar... ORPHA:300570
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... OMIM:614039
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Type II lissencephaly, Coloboma, Hydrocephalus, Flexion contracture,... OMIM:615249
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Agenesis of corpus callosum ORPHA:85334
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Flexion contracture, Dysplastic corpus callosum, Optic atrophy OMIM:613162
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Cerebellar hypoplasia, Inferior vermis hypoplasia, Microcephaly, Hydroceph... OMIM:304100
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogy... ORPHA:250972
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus... ORPHA:171703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Ventriculomegaly, Cerebellar h... OMIM:615287
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar vermis ... OMIM:600118
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Glycosu... OMIM:231680
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Optic nerve hypoplasia, Spina bifida occulta, Microcephaly, Agenesis o... OMIM:618736
Bilateral Polymicrogyria
Arthrogryposis multiplex congenita, Facial diplegia, Aplasia/Hypoplasia of the cerebral white mat... ORPHA:268940
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
Corpus Callosum, Agenesis Of
Microcephaly, Camptodactyly, Agenesis of corpus callosum, Joint contracture of the hand OMIM:217990
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Neonatal death, Vesicoureteral refl... ORPHA:85284
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormality of the basal ganglia, Agenesis of ... ORPHA:101029
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm, Intrauterine growth retardation, Optic atrophy, Caudate atroph... OMIM:618238
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis,... OMIM:300864
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Microcephaly, Bone spicule pigmentatio... OMIM:618889
Hemihyperplasia, Isolated
Myelomeningocele, Nephroblastoma OMIM:235000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Anophthalmia, Hydrocephalus, Pachygyria, Ventriculomegaly... ORPHA:899
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease OMIM:617661
Amish Lethal Microcephaly
Spina bifida, Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Optic atrophy, Agenes... ORPHA:99742
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Oligomeganephronia
Branchial cyst, Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormalit... ORPHA:2260
Masa Syndrome
Camptodactyly of finger, Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea, Coloboma OMIM:613703
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Neural Tube Defects, Susceptibility To
Anencephaly, Urinary incontinence, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:182940
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Iris coloboma, Omphalocele, Umbilical hernia, Retinal ... ORPHA:2143
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Macular degeneration, Agenesis of corpus callosum OMIM:612948
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Benign Schwannoma
Abnormal cranial nerve morphology, Abnormality of peripheral nervous system electrophysiology, Sc... ORPHA:252164
Cofs Syndrome
Camptodactyly of finger, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita,... ORPHA:1466
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... OMIM:604360
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Renal hypoplasia, Umbilical hernia, Hypospadias, Micropenis, Hydrocephalus ORPHA:171839
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Partial... ORPHA:85179
Microcephaly 13, Primary, Autosomal Recessive
Cerebellar hypoplasia, Simplified gyral pattern, Intrauterine growth retardation, Microcephaly, P... OMIM:616051
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Holoprosencephaly, Omphalocele, Hydrocephalus ORPHA:945
Schisis Association
Renal agenesis, Spina bifida, Anencephaly ORPHA:63862
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebra... OMIM:618492
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Iris coloboma, Omphalocele, Umbilical hernia, Retinal ... OMIM:222448
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly, Chorioretinal dysplasia OMIM:616335
Coach Syndrome 2
Chorioretinal coloboma, Coloboma, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus... OMIM:619111
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Micropht... OMIM:614833
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, M... OMIM:617090
Sirenomelia
Renal hypoplasia/aplasia, Spina bifida, Sirenomelia, Abnormality of the urinary system ORPHA:3169
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Cerebellar hypoplasia, Retinal dysplasia, Microphthalmia... OMIM:614830
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy, Cerebral atrophy OMIM:610951
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Lissencephaly, Agenesis of corpus callosum OMIM:300067
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Agenesis of corpus callosum, Omphalocele ORPHA:93267
Joubert Syndrome 22
Temporal cortical atrophy, Coloboma, Hypoplasia of the corpus callosum, Retinal dysplasia, Microp... OMIM:615665
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Agenesis of corpus callosum, Knee flexion contracture, Simplified gyral pattern OMIM:616681
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Ureteral agenesis OMIM:274210
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Simplified gyral pattern, Agen... OMIM:619302
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Multiple cafe-au-lait spots OMIM:619101
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Flexion contracture, Retinal dysplasia, Optic atrophy, H... OMIM:613154
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Remnants of the hyaloid vascular system, Pachygyria, Type II lissenc... OMIM:614643
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve morphology, Cyclopia, Holoprosenceph... ORPHA:990
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Communicating hydrocephalus ORPHA:1064
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Septooptic Dysplasia
Absent septum pellucidum, Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypop... OMIM:182230
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Flexion contracture, Intrauterine growth retardation, Microcephaly, Optic atrophy, Partial agenes... OMIM:618346
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Spinal dysraphism, Renal hypoplasia, Tethered cord OMIM:617660
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Camptodactyly of finger, Facial palsy, Wrist flexion contracture, Peripheral axonal neuropathy, J... OMIM:600638
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Omphalocele, Coloboma, Absent septum pellucidum OMIM:601357
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Death in infancy, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal in... OMIM:614922
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1574
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Abnormal cerebral white matter m... OMIM:618476
Baraitser-Winter Syndrome 2
Pachygyria, Coloboma, Ventriculomegaly, Microphthalmia, Secondary microcephaly, Agenesis of corpu... OMIM:614583
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ventricul... OMIM:218000
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar hypoplasia, Polymicrogyria, Optic nerve hypoplasia, Microphthal... OMIM:615181
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydrocephalus, Hydronephrosis OMIM:609757
Miller-Dieker Syndrome
Lissencephaly, Hypoplasia of the corpus callosum, Omphalocele, Cerebral cortical atrophy ORPHA:531
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder, Hypoplasia of the pons, Hypoplasia of the optic tract, Ventriculomegaly, Cere... ORPHA:500144
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis OMIM:618142
Isolated Hemihyperplasia
Myelomeningocele, Nephroblastoma ORPHA:2128
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias OMIM:600057
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Microcephaly, Cerebral atrophy, Peripheral axonal neuropathy, Pigmentary retinopathy OMIM:619090
Triploidy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Iris coloboma, Omphalocele, Meningo... ORPHA:3376
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Coloboma, Type II lissencephaly, Agyria, Hydrocephalus, Pachygyria, ... OMIM:236670
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Intrauterine growth retardation, Partial agenesis of the corpus callosum OMIM:233810
Narp Syndrome
Ventriculomegaly, Retinal pigment epithelial mottling, Cerebral cortical atrophy, Corticospinal t... ORPHA:644
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney, Cervicomedullary schisis OMIM:118100
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth OMIM:300073
Combined Oxidative Phosphorylation Deficiency 50
Intrauterine growth retardation, Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Imagawa-Matsumoto Syndrome
Melanocytic nevus, Camptodactyly, Umbilical hernia, Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Glossopharyngeal Neuralgia
Schwannoma, Abnormal glossopharyngeal nerve morphology, Cranial nerve compression ORPHA:221098
Mental Retardation, Autosomal Dominant 22
Microcephaly, Agenesis of corpus callosum OMIM:612337
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Pigmentary retinopathy, Hypoplasia of the corpu... ORPHA:370968
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Renal dysplasia, Urethral obstruction, Hypertrophy of the urinary bladder OMIM:601389
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly, Flexion contracture, Cerebellar hyp... OMIM:225790
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Renal agenesis, Hydronephrosis OMIM:618494
Congenital Disorder Of Glycosylation, Type Iil
Proximal tubulopathy, Death in infancy, Unilateral renal agenesis, Hyperechogenic kidneys, Hydroc... OMIM:614576
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis OMIM:608406
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Hydrocephalus OMIM:258320
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Optic atrophy, Partial agenesis of the corpus callosum OMIM:245349
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Spina bifida ORPHA:2345
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Stillbirth ORPHA:294975
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude ORPHA:90117
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Arnold-Chiari Malformation Type I
Abnormality of the eleventh cranial nerve, Abnormality of the twelfth cranial nerve, Abnormality ... ORPHA:268882
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Developmental And Epileptic Encephalopathy 88
Inferior vermis hypoplasia, Hypoplasia of the pons, Progressive microcephaly, Partial agenesis of... OMIM:618959
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Dandy-Walker ma... ORPHA:262767
Lumbar Syndrome
Spina bifida, Vesicoureteral reflux, Bladder exstrophy, Hypospadias, Renal agenesis, Myelomeningo... ORPHA:83628
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia ORPHA:2246
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Spina bifida occulta OMIM:619227
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Holoprosencephaly,... OMIM:253800
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Holoprosencephaly, Iris coloboma, Bilateral microphthalmos, Microphthalmi... OMIM:611638
Cerebrooculofacioskeletal Syndrome 1
Arthrogryposis multiplex congenita, Camptodactyly, Cerebellar hypoplasia, Microphthalmia, Joint c... OMIM:214150
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Coloboma, Camptodactyly, Lipoma of corpus callosum, Microphthalmia, Joi... OMIM:136760
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Inguinal hernia, Microcephaly, Agenesis of corpus callosum ORPHA:2508
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Rieger anomaly, Ventriculomegaly, Abnormal auditory evoked potentials, Agenesis of... OMIM:109120
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus OMIM:266810
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Syringomyelia OMIM:613735
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Retinal degeneration, Peripheral axonal neuropathy... OMIM:275400
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Trisomy 1Q
Camptodactyly of finger, Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia, Omphalocele, Ano... ORPHA:261344
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis OMIM:617926
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... ORPHA:411709
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Hyperechogenic kidneys, Meningocele, Renal dysplasia, Hypospadias, Renal in... ORPHA:397715
Gombo Syndrome
Microcephaly, Microphthalmia OMIM:233270
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux, Abnormal conus terminalis morphology ORPHA:464288
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic kidney, Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis ORPHA:3109
Biemond Syndrome Type 2
Microphthalmia, Coloboma, Hydrocephalus ORPHA:141333
Pseudotrisomy 13 Syndrome
Cyclopia, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Omphalocele, Polymicrogyria, M... OMIM:264480
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly, Flexion contracture, ... OMIM:618651
Cloacal Exstrophy
Spina bifida, Horseshoe kidney, Hydroureter, Ureteropelvic junction obstruction, Vesicoureteral r... ORPHA:93929
Curry-Jones Syndrome
Optic disc coloboma, Ventriculomegaly, Iris coloboma, Microphthalmia, Hypopigmented skin patches,... ORPHA:1553
Meckel Syndrome, Type 10
Hypospadias, Micropenis, Renal cyst, Anencephaly OMIM:614175
Srd5A3-Cdg
Coloboma, Optic disc hypoplasia, Spotty hyperpigmentation, Optic atrophy, Rod-cone dystrophy, Dec... ORPHA:324737
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Coloboma, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hypoplasia, Hypo... OMIM:616975
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Hydrocephalus, Fusion of the left and right thal... OMIM:610828
Czeizel-Losonci Syndrome
Spina bifida, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis, Spina bif... ORPHA:2437
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Meckel Syndrome, Type 2
Meningocele, Renal cyst, Anencephaly OMIM:603194
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst OMIM:614866
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Ventriculomegaly, Cerebral atrophy, Microcephaly, Agenesis of corpus callosum OMIM:312170
Harrod Syndrome
Hypospadias, Renal cortical microcysts OMIM:601095
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Camptodactyly of toe, Ventriculomegaly, Umbilical hernia, Inguinal hernia, Joint c... OMIM:175700
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Umbilical hernia, Renal dysplasia, Hypoplasia of penis, Renal insufficiency ORPHA:85321
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis ORPHA:1745
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Iris coloboma, Septo-optic dysplasia, Microphthalmia, Optic atrophy, Agenesis of c... ORPHA:3301
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microcephaly, Arthrogryposis multiplex congenita, Microphthalmia OMIM:616570
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum OMIM:211200
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis, Nephropathy ORPHA:3033
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Jaberi-Elahi Syndrome
Microcephaly, Optic atrophy, Agenesis of corpus callosum OMIM:617988
Mosaic Trisomy 1
Penile hypospadias, Micropenis, Renal cortical cysts, Renal cyst ORPHA:1692
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Joubert Syndrome 23
Dysplastic corpus callosum, Coloboma OMIM:616490
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Ureteral hypoplasia OMIM:616258
Charcot-Marie-Tooth Disease Type 4C
Abnormal motor nerve conduction velocity, Onion bulb formation, Facial palsy, Abnormality of the ... ORPHA:99949
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Anencephaly OMIM:614120
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Ventriculomegaly, Cerebral calcification, Microphthalmia, In... ORPHA:858
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Coloboma, Hypoplasia of the corpus callosum, Anterior pituitary hypoplasi... OMIM:206900
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Even-Plus Syndrome
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:616854
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Iris coloboma, Microphthalmia, Retinal detachment, Optic atrophy ORPHA:1473
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Ventriculomegaly, Intrauterine growth retardation, Cerebral cortical atr... ORPHA:48431
Aicardi Syndrome
Chorioretinal lacunae, Hiatus hernia, Cavum septum pellucidum, Spina bifida, Pachygyria, Cerebell... OMIM:304050
Holoprosencephaly
Chorioretinal coloboma, Panhypopituitarism, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypopla... ORPHA:2162
Trisomy 18
Camptodactyly of finger, Abnormality of retinal pigmentation, Spina bifida, Aplasia/Hypoplasia of... ORPHA:3380
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Abnormally large globe, Microcephaly, Optic atrophy, Agenesis of corpus callosum, Limb joint cont... OMIM:300004
Stromme Syndrome
Stillbirth, Hydrocephalus, Cerebellar vermis hypoplasia, Iris coloboma, Cerebellar hypoplasia, Op... OMIM:243605
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
C Syndrome
Renal cortical cysts OMIM:211750
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus ... OMIM:619301
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Hydrocephalus OMIM:614083
Lissencephaly 7 With Cerebellar Hypoplasia
Arthrogryposis multiplex congenita, Cerebellar hypoplasia, Agyria, Microcephaly, Agenesis of corp... OMIM:616342
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypoplasia of the pons, Cerebel... ORPHA:1493
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Unilateral renal agenesis, Umbilical hernia, Multicystic kidney dysplasia OMIM:308205
Glycine Encephalopathy
Agenesis of corpus callosum OMIM:605899
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Pachygyria, Diffuse axonal swell... ORPHA:86822
Cerebrocostomandibular Syndrome
Spina bifida, Death in infancy, Multicystic kidney dysplasia, Meningocele, Hydranencephaly, Myelo... ORPHA:1393
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Polyneuritis, Ab... ORPHA:297
Burn-Mckeown Syndrome
Renal hypoplasia OMIM:608572
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Inferior vermis hypoplasia, Microphthal... ORPHA:139471
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Horseshoe kidney, Recurrent urinary tract infections, Unilateral renal agenesis, Hypospadias, Mic... ORPHA:363444
Emanuel Syndrome
Renal hypoplasia, Micropenis, Hydrocephalus, Unilateral renal agenesis ORPHA:96170
Mucolipidosis Iv
Retinal degeneration, Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Optic at... OMIM:252650
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Dan... OMIM:164180
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Ventriculomegaly, Inguinal hernia, Microcephaly, Abnormal glob... OMIM:618603
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Corticospinal tract hypopla... ORPHA:255138
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Hydrocephalus, Absent septum pellucidum, Corticospinal tract hypopl... OMIM:307000
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Ventriculomegaly, Aplas... ORPHA:137902
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, Facial palsy, Microcephaly, Optic atrophy, Agenesis of corpus ... OMIM:616239
Joubert Syndrome With Ocular Defect
Hydrocephalus, Retinal coloboma, Cerebellar vermis hypoplasia, Iris coloboma, Aganglionic megacol... ORPHA:220493
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Arrhinencephaly, Unilateral renal agenesis, Pelvic kidney OMIM:156810
Hyperreflexia
Microcephaly, Abnormality of retinal pigmentation OMIM:145290
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Ventriculomegaly, Pachygyria, Pigmentary retinopathy OMIM:617613
Chiari Malformation Type Ii
Spina bifida, Cervical myelopathy, Syringomyelia, Myelomeningocele, Hydrocephalus OMIM:207950
Curry-Jones Syndrome
Coloboma, Ventriculomegaly, Megalencephaly, Polymicrogyria, Microphthalmia, Hemimegalencephaly, A... OMIM:601707
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Ventriculomegaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Microc... ORPHA:168486
Diabetic Embryopathy
Spinal dysraphism, Hydronephrosis, Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hy... ORPHA:1926
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hypoplasia of the corpus callosum, Cerebral atrophy, Seconda... ORPHA:397951
Craniosynostosis 6
Abnormal corpus callosum morphology, Spina bifida occulta, Microcephaly, Agenesis of corpus callo... OMIM:616602
Microphthalmia, Syndromic 13
Microphthalmia, Microcephaly, Coloboma OMIM:300915
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Diastasis recti, Elevated circulating luteinizing hormone level, Agenesis of corpus callosum, Omp... OMIM:618419
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis OMIM:120400
Foxg1 Syndrome
Pachygyria, Optic disc hypoplasia, Hypoplasia of the corpus callosum, Abnormal corpus callosum mo... ORPHA:561854
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia/aplasia, Spinal dysraphism, Tethered cord OMIM:612918
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Omphalocele, Hydrocephalus OMIM:236640
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Micropenis, Unilateral renal agenesis OMIM:308700
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Cerebellar hypoplasia, Multiple joint ... OMIM:605013
Joubert Syndrome 5
Nephronophthisis, Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kid... OMIM:610188
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:618577
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Optic nerve hypoplasia, Cafe-au-lait spot, Microphthalmia... OMIM:609053
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Abnormality of retinal pigmentation, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Distal Trisomy 15Q
Intrauterine growth retardation, Camptodactyly of finger, Microcephaly, Omphalocele ORPHA:1707
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal periventricular white matter morphology, Cortical dysplasia, Cerebral hypoplasia, Hypopl... ORPHA:468631
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormal retinal morphology, Prim... ORPHA:89844
Combined Oxidative Phosphorylation Deficiency 2
Ventriculomegaly, Agenesis of corpus callosum OMIM:610498
Exstrophy-Epispadias Complex
Spina bifida, Bladder duplication, Abnormality of the kidney, Horseshoe kidney, Renal hypoplasia,... ORPHA:322
Meckel Syndrome, Type 4
Meningocele, Renal cyst, Hydrocephalus, Anencephaly OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contracture,... OMIM:613156
Carpenter Syndrome 1
Aplasia/Hypoplasia of the corpus callosum, Camptodactyly, Cerebral atrophy, Omphalocele, Umbilica... OMIM:201000
Adams-Oliver Syndrome 2
Cerebral atrophy, Cerebellar hypoplasia, Polymicrogyria, Microphthalmia, Microcephaly, Optic atrophy OMIM:614219
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Ventri... ORPHA:272
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Microphthalmia, Retina... OMIM:212550
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder OMIM:617666
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Pachygyria, Ventriculomegaly, Iris coloboma, Microphthalmia, Microcephaly... OMIM:243310
2Q24 Microdeletion Syndrome
Microphthalmia, Camptodactyly of finger, Coloboma ORPHA:1617
Trigonocephaly 1
Microcephaly, Omphalocele OMIM:190440
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Hypoplasia of the corpus callosum, Abnormal cerebral whit... ORPHA:100996
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hernia, Microphthalmia... OMIM:602501
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Neurocutaneous Melanocytosis
Meningocele, Renal hypoplasia/aplasia, Death in infancy, Syringomyelia ORPHA:2481
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Microphthalmia, Syndromic 5
Coloboma, Ectopic posterior pituitary, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia,... OMIM:610125
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Ectopic kidney, Syringomyelia ORPHA:94063
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Congenital Disorder Of Glycosylation, Type Ii
Coloboma OMIM:607906
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele, Decreased response to growth h... ORPHA:1263
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Iris coloboma, Microphthalmia, Anophthalmia, Agenesis of corpus... ORPHA:77298
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Porencephalic cyst, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia o... OMIM:613001
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Holoprosencephaly 11
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:614226
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Mental Retardation, Buenos Aires Type
Hydrocephalus, Fair hair, Microcephaly, Blue irides, Partial agenesis of the corpus callosum OMIM:249630
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Decreased amplitude of sensory action potentials, Retinal pigment epitheli... OMIM:618733
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Orofaciodigital Syndrome Xv
Ventriculomegaly, Agenesis of corpus callosum OMIM:617127
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Temtamy Syndrome
Chorioretinal coloboma, Lens luxation, Ventriculomegaly, Ectopia lentis, Iris coloboma, Agenesis ... OMIM:218340
Neurotrophic Keratopathy
Corneal scarring, Abnormal fifth cranial nerve morphology ORPHA:137596
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Orofaciodigital Syndrome V
Aganglionic megacolon, Agenesis of corpus callosum OMIM:174300
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia, Holoprosencephaly, Microphthalmia, Anophthalmia, Microcephaly, Anterior hypop... OMIM:147250
Subependymal Nodular Heterotopia
Meningocele, Polymicrogyria, Focal cortical dysplasia, Myelomeningocele, Partial agenesis of the ... ORPHA:101030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the brainstem, Buphthalmos, Retinal atrophy, Coloboma, Type II lissencephaly, Pachy... OMIM:253280
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hypospadias, Renal cyst, Polycystic kidney dysplasia OMIM:614091
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:610680
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Hydronephrosis, Aminoaciduria OMIM:617913
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Joubert Syndrome With Renal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Aganglionic megacolon, Iris coloboma, Polymicrogyria... ORPHA:220497
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Umbilical hernia OMIM:618914
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Microphthalmia, Isolated 8
Microphthalmia, Optic nerve hypoplasia, Coloboma, Retinal detachment OMIM:615113
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly, Microcephaly, Abnormality of retinal pigmentation, Intrauterine growth retardation ORPHA:2515
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Hydronephrosis, Hypospadias, Renal cortical microcysts OMIM:214100
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Micropenis, Ectopic kidney, Unilateral renal agenesis OMIM:616541
Omphalocele
Omphalocele ORPHA:660
Emanuel Syndrome
Renal hypoplasia, Renal agenesis, Micropenis OMIM:609029
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Neonatal death, Absence of renal corticomedullary d... OMIM:263200
Fumarase Deficiency
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebral atrophy, Polymicrogyria, Reduc... OMIM:606812
Focal Dermal Hypoplasia
Enamel hypoplasia, Aniridia, Reticular hyperpigmentation, Iris coloboma, Omphalocele, Spina bifid... OMIM:305600
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Matthew-Wood Syndrome
Renal hypoplasia, Vesicoureteral reflux, Horseshoe kidney ORPHA:2470
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Cach Syndrome
Renal hypoplasia ORPHA:135
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Fryns Syndrome
Ventriculomegaly, Aganglionic megacolon, Omphalocele, Cerebral cortical atrophy, Microphthalmia, ... ORPHA:2059
Polysyndactyly With Cardiac Malformation
Renal cyst, Stillbirth OMIM:263630
Joubert Syndrome 14
Coloboma, Morning glory anomaly, Microphthalmia, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma, Aplasia/Hypoplasia of the corpus callosum ORPHA:1777
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Renal hypoplasia, Vesicouretera... OMIM:607323
Focal Dermal Hypoplasia
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormal dental enamel morphology, Camp... ORPHA:2092
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Flexion contracture, Microcephaly, Agenesis of corpus callosum, Hypopigm... ORPHA:261519
Joubert Syndrome 20
Renal cyst OMIM:614970
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:218350
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Microphthalmia, Microcephaly, Optic atrophy, Partial agenesis of the c... OMIM:234050
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Flexion contracture, Progressive leukoencephalopathy, Leukoencephalopathy... OMIM:252011
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary tract infections, Unilateral renal... OMIM:614527
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Umbilical hernia, Vesicoureteral reflux, Renal cyst, Hydronephrosis OMIM:618454
Pallister-Hall Syndrome
Hydroureter, Renal hypoplasia, Holoprosencephaly, Renal dysplasia, Neonatal death, Ectopic kidney... OMIM:146510
Congenital Varicella Syndrome
Atypical scarring of skin, Cerebral cortical atrophy, Microphthalmia, Intrauterine growth retarda... ORPHA:291
Al-Gazali-Bakalinova Syndrome
Inguinal hernia, Agenesis of corpus callosum OMIM:607131
Aicardi Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Hi... ORPHA:50
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Bilateral microphthalmos, Coloboma, Unilateral microphthalmos OMIM:619318
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Iris coloboma, Coloboma OMIM:610023
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Coloboma OMIM:602499
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Abnormality of retinal pigmentation, Umbilical hernia, Inguinal hernia, M... ORPHA:2196
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Syringomyelia, Renal agenesis, M... ORPHA:63259
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Micro Syndrome
Abnormality of retinal pigmentation, Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Retin... ORPHA:2510
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Diprosopus
Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Vesicoureteral reflux, Nephroblastoma, Nephrocalcinosis, N... OMIM:130650
Hydrolethalus
Agenesis of corpus callosum, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Microphthalm... ORPHA:2189
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ectopic kidney, Renal agenesis, Ureteral duplication, Hydrocephalus OMIM:602200
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cyclopia, Holoprosencephaly, Cerebellar hypoplasia, Om... ORPHA:2166
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Renal dysplasia, Renal agenesis, Ectopic kidney ORPHA:2578
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Hydrocephalus, Ventriculomegaly, Aqueductal stenosis, Meningocele, Polymicrog... ORPHA:1136
Linear Skin Defects With Multiple Congenital Anomalies 1
Agenesis of corpus callosum, Pigmentary retinopathy, Absent septum pellucidum, Hydrocephalus, Iri... OMIM:309801
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Coloboma OMIM:120433
1Q44 Microdeletion Syndrome
Hydrocephalus, Optic disc hypoplasia, Ventriculomegaly, Microcephaly, Agenesis of corpus callosum ORPHA:238769
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Iris colobom... ORPHA:448237
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Mental Retardation Syndrome, Belgian Type
Coloboma OMIM:249599
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Hydrocephalus OMIM:101800
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hy... ORPHA:494344
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Microphthalmia, Retinal detachment,... OMIM:152950
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Posterior Meningocele
Enuresis, Neural tube defect, Meningocele, Occipital meningocele, Hydromyelia, Lipomyelomeningoce... ORPHA:268810
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimuation test OMIM:615286
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Coloboma, Retinal coloboma, Hypoplasia of the corpus callosum, Ventriculomegaly, Ir... ORPHA:508498
Pagod Syndrome
Spina bifida, Death in infancy, Multicystic kidney dysplasia, Meningocele, Renal hypoplasia/aplasia ORPHA:991
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Omphalocele, X-Linked
Omphalocele OMIM:310980
Nanophthalmos 2
Microphthalmia OMIM:609549
Leigh Syndrome With Leukodystrophy
Focal T2 hyperintense basal ganglia lesion, Optic atrophy, Pigmentary retinopathy ORPHA:255241
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Cyclopia, Alobar holoprosencephaly, Sep... OMIM:301043
Trisomy 20P
Spina bifida, Multiple renal cysts, Umbilical hernia, Abnormality of the ureter, Abnormal localiz... ORPHA:261318
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Igg4-Related Ophthalmic Disease
Abnormality of the optic nerve, Abnormality of infra-orbital nerve, Abnormal fifth cranial nerve ... ORPHA:449563
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Aqueductal stenosis, Omphalocele, Cerebral calcification ORPHA:3035
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Ventriculomegaly, Cerebellar vermis hypoplasia, Intrauterine growth reta... OMIM:619074
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hydrocephalus OMIM:617866
Trichohepatoenteric Syndrome 1
Hypospadias, Large placenta, Galactosuria, Renal cortical microcysts OMIM:222470
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydronephrosis, Hydrocephalus ORPHA:2839
Ring Chromosome 14 Syndrome
Microcephaly, Pigmentary retinopathy OMIM:616606
Schizophrenia 1
Renal agenesis, Partially duplicated kidney, Ectopic kidney OMIM:181510
Pontocerebellar Hypoplasia, Type 11
Hypoplasia of the corpus callosum, Microcephaly, Coloboma OMIM:617695
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Microphthalmia, Rod-cone dystrophy, Hydrocephalus OMIM:601794
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum, Lobar... ORPHA:2117
6Q25 Microdeletion Syndrome
Camptodactyly of finger, Ventriculomegaly, Microcephaly, Agenesis of corpus callosum ORPHA:251056
Lissencephaly 6 With Microcephaly
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Simplified gyral... OMIM:616212
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Pigmentary ret... ORPHA:79264
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Hydronephrosis OMIM:616737
Marden-Walker Syndrome
Renal hypoplasia, Hypospadias, Micropenis OMIM:248700
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Olivopontocerebellar hypoplas... ORPHA:457284
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Isolated Trigonocephaly
Omphalocele ORPHA:3366
Stevenson-Carey Syndrome
Coloboma, Hypoplasia of the corpus callosum, Camptodactyly, Cerebellar hypoplasia, Microphthalmia... OMIM:611961
4Q21 Microdeletion Syndrome
Intrauterine growth retardation, Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus call... ORPHA:238750
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Osteopathia Striata With Cranial Sclerosis
Camptodactyly, Flexion contracture of toe, Omphalocele, Facial palsy, Joint contracture of the ha... OMIM:300373
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum OMIM:600329
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Norrie Disease
Retinal dysplasia, Hypoplasia of the iris, Microphthalmia, Retinal detachment, Optic atrophy, Ret... OMIM:310600
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Optic atrophy, Agenesis of corpus callosum, Hydrocephalus OMIM:123790
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Ventriculomegaly, Hypopituitarism, Lipoma, Agenesis of corpus ... OMIM:603671
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Ventriculomegaly, Aganglionic megacolon, Microcephaly, Agenesis of corpus callosum ORPHA:452
Xeroderma Pigmentosum, Complementation Group B
Freckling, Pigmentary retinopathy, Ventriculomegaly, Basal ganglia calcification, Microphthalmia,... OMIM:610651
Ritscher-Schinzel Syndrome 1
Coloboma, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Decreased re... OMIM:220210
Warburg Micro Syndrome 3
Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contracture, Secondary microcephaly,... OMIM:614222
Waardenburg-Shah Syndrome