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Gene: Arhgap35 MGI:1929494

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:

p190RhoGAP, Grlf1, P190 RhoGAP, p190A, 6430596G11Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Arhgap35 (0 diseases)
Human diseases predicted to be associated with Arhgap35 (1481 diseases)

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	Matching phenotypes	Source
Spina Bifida-Hypospadias Syndrome	Hypospadias, Spina bifida, Spinal dysraphism	ORPHA:3176
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Optic atrophy, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum	OMIM:274270
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc...	ORPHA:1528
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Unilateral renal agenesis	OMIM:601355
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Peripheral axonal neuropathy, Facial palsy, Camptodactyly of finger, Dysgenesis of the basal gang...	OMIM:600638
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Myelomen...	ORPHA:1756
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the...	OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypop...	OMIM:613153
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Neurogenic bladder, Optic nerve hypoplasia, Aplasia/Hypop...	ORPHA:572013
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Ren...	OMIM:236500
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Fusion of the left...	OMIM:617542
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Ty...	ORPHA:370959
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microphthalmia, Arthrogryposis ...	OMIM:616570
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Coloboma, Retinal dysplasia, Micro...	ORPHA:324416
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Bilateral cryptorchidism, Nephroptosis	OMIM:617564
Meckel Syndrome, Type 9	Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Joint contracture, Optic atrophy, Agenesis of corpus callosum, Periventricular leukomalacia	OMIM:618324
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth, Renal hypoplasia	OMIM:276950
Meckel Syndrome, Type 11	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:615397
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Schisis Association	Encephalocele, Anencephaly, Renal agenesis, Spina bifida	ORPHA:63862
Joubert Syndrome 15	Micropenis, Exencephaly, Nephronophthisis	OMIM:614464
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Cryptorchidism, Unilateral Or Bilateral	Renal agenesis	OMIM:219050
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Microcephaly, Optic atrophy, Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Fro...	OMIM:618766
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Cerebellar vermi...	ORPHA:171680
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Lissencephaly 3	Agyria, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H...	OMIM:611603
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric...	ORPHA:171703
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si...	ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Microcephaly, Abnormally large globe, Hydrocephalus, Flexion contracture, ...	OMIM:615249
Lissencephaly 8	Occipital encephalocele, Type II lissencephaly, Microcephaly, Optic atrophy, Hypoplasia of the br...	OMIM:617255
Ventriculomegaly And Arthrogryposis	Arthrogryposis multiplex congenita, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventricul...	OMIM:619501
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Neon...	ORPHA:85284
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Marcus-Gunn Syndrome	Coloboma, Abnormal fifth cranial nerve morphology, Morning glory anomaly	ORPHA:91412
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Agenesis of corpus callosum	ORPHA:85334
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cere...	OMIM:304100
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria,...	OMIM:600118
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Bilateral Polymicrogyria	4-layered lissencephaly, Aplasia/Hypoplasia of the cerebral white matter, Perisylvian polymicrogy...	ORPHA:268940
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Arnold-Chiari Malformation Type I	Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of...	ORPHA:268882
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Microcephaly, Hydrocephalus, Flexi...	OMIM:613155
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Corpus Callosum, Agenesis Of	Joint contracture of the hand, Agenesis of corpus callosum, Camptodactyly, Microcephaly	OMIM:217990
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of t...	OMIM:619302
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Masa Syndrome	Agenesis of corpus callosum, Camptodactyly of finger, Ventriculomegaly	ORPHA:2466
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Optic atrophy, Aplasia of the left hemidiaphragm, Intrauterine growth retardatio...	OMIM:618238
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Renal cyst	OMIM:614870
Joubert Syndrome 16	Encephalocele, Renal cyst, Nephronophthisis	OMIM:614465
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bil...	ORPHA:2260
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Walker-Warburg Syndrome	Anophthalmia, Chorioretinal dysplasia, Abnormal optic nerve morphology, Retinal dysplasia, Pachyg...	ORPHA:899
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Flexion contracture, Optic atrophy, Hypoplasia of the corpus callosum	OMIM:613162
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:303350
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Umbilical hernia, M...	ORPHA:171839
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Peripheral axonal neuropathy, Corpus callosum atrophy, Retinal pigment epithel...	OMIM:619389
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Agenesis of corpus callosum, Thin corpus callosum, Ventriculomegaly	OMIM:618286
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Renal cortical cysts	OMIM:609180
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil...	OMIM:614922
Donnai-Barrow Syndrome	Omphalocele, Retinal detachment, Retinal dystrophy, Congenital diaphragmatic hernia, Aplasia/Hypo...	ORPHA:2143
Sirenomelia	Sirenomelia, Abnormality of the urinary system, Spina bifida, Renal hypoplasia/aplasia	ORPHA:3169
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Renal insufficiency, Testicular seminoma, Unilateral renal agenesis	ORPHA:281090
Williams-Beuren Region Duplication Syndrome	Cryptorchidism, Hydrocephalus, Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Frontonasal Dysplasia 1	Pericallosal lipoma, Frontal cutaneous lipoma, Anterior basal encephalocele, Coloboma, Camptodact...	OMIM:136760
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Congenital diaphragmatic hernia, Microcephaly, Hypoplasia of the corpus callos...	OMIM:300887
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr...	OMIM:620200
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal...	OMIM:216360
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Agyria, Remnants of the hyaloid vascular sys...	OMIM:614643
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Chorioretinal coloboma, Agenesis of corpus...	OMIM:619111
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Degeneration of the lateral corticospinal...	OMIM:604360
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Microcephaly, Retinal pigment epithel...	OMIM:618889
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Cofs Syndrome	Abnormality of retinal pigmentation, Cerebral calcification, Camptodactyly of finger, Microcephal...	ORPHA:1466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Coloboma, Congenital contracture, Hypoplasia of the brainstem, Retinal d...	OMIM:236670
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Unilateral renal agenesis	OMIM:618504
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:617562
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern...	OMIM:615219
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia	OMIM:615996
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Oculocerebrocutaneous Syndrome	Anophthalmia, Orbital encephalocele, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis ...	OMIM:164180
Septooptic Dysplasia	Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response ...	OMIM:182230
Donnai-Barrow Syndrome	Omphalocele, Retinal detachment, Retinal dystrophy, Congenital diaphragmatic hernia, Partial agen...	OMIM:222448
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Tethered cord, Renal hypoplasia, Spinal dysraphism	OMIM:612918
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul...	ORPHA:85179
Microcephaly, Amish Type	Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, F...	OMIM:607196
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Lissenceph...	OMIM:614833
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Joubert Syndrome 5	Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re...	OMIM:610188
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cryptorchidism, Micropenis, Unilateral renal agenesis	OMIM:244200
Lissencephaly, X-Linked, 1	Pachygyria, Agenesis of corpus callosum, Agyria, Lissencephaly	OMIM:300067
Microcephaly 16, Primary, Autosomal Recessive	Hypermelanotic macule, Simplified gyral pattern, Knee flexion contracture, Primary microcephaly, ...	OMIM:616681
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Microphthalmia, Agenesis of corpus callosum	ORPHA:93267
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Morning glory anomaly...	OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalo...	OMIM:615181
Hogue-Janssen Syndrome 2	Hydrocephalus, Unilateral renal agenesis	OMIM:616362
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia, Microcephaly	OMIM:616335
Isolated Klippel-Feil Syndrome	Spina bifida, Renal hypoplasia/aplasia	ORPHA:2345
Diaphanospondylodysostosis	Myelomeningocele, Multiple renal cysts	ORPHA:66637
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Absent septum pellucidum, Anterior encephalocele, Coloboma, Holoprosencephaly	OMIM:601357
Mismatch Repair Cancer Syndrome 4	Multiple cafe-au-lait spots, Agenesis of corpus callosum	OMIM:619101
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Mpdu1-Cdg	Renal cortical cysts	ORPHA:79323
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Schwannoma	ORPHA:221098
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Neurogenic bladder, Microcephaly, Hypoplasia of the pons, Optic atrophy, Simplified gyral pattern...	OMIM:617669
Bardet-Biedl Syndrome 3	Renal hypoplasia	OMIM:600151
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:616540
Baraitser-Winter Syndrome 2	Coloboma, Lissencephaly, Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus c...	OMIM:614583
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atroph...	ORPHA:500144
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Flexion contractu...	OMIM:613154
Curry-Jones Syndrome	Optic disc coloboma, Hypopigmented skin patches, Microphthalmia, Agenesis of corpus callosum, Iri...	ORPHA:1553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Flex...	OMIM:253800
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy, Cerebral atrophy	OMIM:610951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Hydrocephalus, Retinal dysplasia, Cerebellar hypoplasia, Microphthalmia, V...	OMIM:614830
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Optic atrophy, Lissencephaly, Agenesis ...	ORPHA:99742
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Verheij Syndrome	Branchial cyst, Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Triploidy	Omphalocele, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holoprosencep...	ORPHA:3376
Joubert Syndrome 22	Agenesis of cerebellar vermis, Temporal cortical atrophy, Coloboma, Retinal dysplasia, Hypoplasia...	OMIM:615665
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death in childhood	OMIM:604273
Lumbar Syndrome	Renal agenesis, Hypospadias, Spina bifida, Myelomeningocele, Vesicoureteral reflux, Micropenis, B...	ORPHA:83628
Burning Mouth Syndrome	Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials	ORPHA:353253
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder	OMIM:601389
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonat...	OMIM:613390
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Tethered cord, Renal hypoplasia, Spinal dysraphism	OMIM:617660
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis	OMIM:618142
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Unilateral renal agenesis	ORPHA:1064
Burn-Mckeown Syndrome	Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Benign Schwannoma	Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera...	ORPHA:252164
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia	OMIM:613730
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Cervicomedullary schisis	OMIM:118100
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Co...	OMIM:619955
Branchiootorenal Syndrome 1	Branchial cyst, Renal malrotation, Branchial fistula, Unilateral renal agenesis, Renal steatosis,...	OMIM:113650
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Abnormality of the urinary syst...	ORPHA:2437
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Bardet-Biedl Syndrome 4	Cryptorchidism, Abnormality of the kidney, Renal cyst	OMIM:615982
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma	OMIM:251505
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Hydrocephalus	OMIM:258320
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:618325
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Hypoplasia of penis, Renal hypoplasia	ORPHA:2256
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Cyclopia, Agenesis of corpus callosum, A...	ORPHA:990
Pseudotrisomy 13 Syndrome	Encephalocele, Omphalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia...	OMIM:264480
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Hemihyperplasia, Isolated	Nephroblastoma, Myelomeningocele	OMIM:235000
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome...	ORPHA:93929
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Renal insufficiency, Hypospadias, Meningocele, Renal cortical cysts, Hyp...	ORPHA:397715
Meckel Syndrome, Type 2	Encephalocele, Omphalocele, Meningocele, Anencephaly, Microphthalmia, Dandy-Walker malformation, ...	OMIM:603194
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia	ORPHA:2246
Narp Syndrome	Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Retinal arteriolar tortuosity, Re...	ORPHA:644
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Unilateral renal agenesis, Hydrocephalus, Proximal tubulopathy, Hyperechogenic ...	OMIM:614576
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Microcephaly, Partial agenesis of the corpus callosum, Flexion contracture, Optic atrophy, Intrau...	OMIM:618346
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Combined Oxidative Phosphorylation Deficiency 50	Intrauterine growth retardation, Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ventriculomegaly, Decrea...	OMIM:218000
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve	ORPHA:90117
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum, Congenital diaphragmatic hernia	ORPHA:380
Miller-Dieker Syndrome	Omphalocele, Lissencephaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum	ORPHA:531
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Peripheral axonal neuropathy, Cerebral atrophy, Microcephaly	OMIM:619090
Hadziselimovic Syndrome	Renal hypoplasia	OMIM:612946
Inverted Duplicated Chromosome 15 Syndrome	Cryptorchidism, Unilateral renal agenesis	ORPHA:3306
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney	OMIM:613680
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Optic atrophy, Microcephaly	OMIM:245349
Imagawa-Matsumoto Syndrome	Melanocytic nevus, Camptodactyly, Umbilical hernia, Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Pigmentary...	ORPHA:370968
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia, Abnormal conus terminalis morphology	ORPHA:464288
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Renal cyst	OMIM:611561
Microhydranencephaly	Multiple joint contractures, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy...	OMIM:605013
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Even-Plus Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Renal hypoplasia	OMIM:616854
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Cryptorchidism, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Kallmann Syndrome With Spastic Paraplegia	Cryptorchidism, Micropenis, Testicular atrophy, Unilateral renal agenesis	OMIM:308750
Orofaciodigital Syndrome Xvii	Micropenis, Renal hypoplasia	OMIM:617926
Renal Tubular Dysgenesis	Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts	ORPHA:3033
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia	OMIM:207950
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Spina bifida occulta, Renal agenesis, Unilateral renal agenesis	OMIM:619227
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Trisomy 1Q	Omphalocele, Anophthalmia, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalu...	ORPHA:261344
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Hydrocephalus, Spinal dysraphism,...	ORPHA:1926
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia...	OMIM:611638
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney	OMIM:212780
Aicardi Syndrome	Retinal detachment, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Pachygyria, Chorior...	OMIM:304050
Braddock Syndrome	Unilateral renal agenesis	ORPHA:52047
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Inguinal hernia, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Colpocephal...	OMIM:618651
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Spina bifida, Myelomeningocele, Meningocele, Hydr...	ORPHA:1393
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Aganglionic megacolon, Hydrocepha...	ORPHA:220493
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma, Microcephaly	OMIM:618295
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Vesicoureteral reflux, Micropenis	OMIM:619951
Emanuel Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Ren...	OMIM:609029
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Hydrocephalus, Agenesis of corpus callosum, ...	OMIM:109120
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Inguinal hernia, Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus call...	OMIM:618603
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Umbilical hernia, Ren...	ORPHA:85321
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enla...	OMIM:613885
Biemond Syndrome Type 2	Microphthalmia, Coloboma, Hydrocephalus	ORPHA:141333
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Hydrocephalus, Camptodactyly of toe, Umbilical hernia, Joint contracture of the ...	OMIM:175700
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Syringomyelia, Renal hypoplasia, Hydronephrosis	OMIM:613735
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Optic atrophy, Hypoplastic an...	OMIM:616975
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Aplasia/Hypop...	ORPHA:65
C Syndrome	Cryptorchidism, Renal cortical cysts	OMIM:211750
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Hydrocephalus, Optic atrophy, Microphthalmia, Agenesis of corpus callosum,...	ORPHA:3301
Mosaic Trisomy 1	Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst	ORPHA:1692
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:1473
Holoprosencephaly	Encephalocele, Omphalocele, Anophthalmia, Congenital diaphragmatic hernia, Microcephaly, Anterior...	ORPHA:2162
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,...	OMIM:225790
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Cryptorchidism, Azoospermia, Micropenis, Testicular atrophy, Decreased...	OMIM:308700
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Ce...	OMIM:243605
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Pyruvate Dehydrogenase E1-Alpha Deficiency	Periventricular leukomalacia, Microcephaly, Partial agenesis of the corpus callosum, Flexion cont...	ORPHA:79243
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Coloboma, Cerebellar hypoplasia, Hypoplasia of the corpus c...	OMIM:617695
Tick-Borne Encephalitis	Facial palsy, Abnormal glossopharyngeal nerve morphology, Polyneuritis, Abnormal autonomic nervou...	ORPHA:297
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Cerebral calcification, Microcephaly, Hydrocephalus, Microph...	ORPHA:858
Joubert Syndrome 18	Occipital encephalocele, Renal cyst, Horseshoe kidney	OMIM:614815
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney	ORPHA:3109
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Joubert Syndrome 7	Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Trisomy 18	Omphalocele, Abnormality of retinal pigmentation, Camptodactyly of finger, Spina bifida, Microcep...	ORPHA:3380
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst	OMIM:611134
Holoprosencephaly 7	Omphalocele, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpu...	OMIM:610828
Congenital Disorder Of Glycosylation, Type Iq	Cerebellar vermis hypoplasia, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Micropht...	OMIM:612379
Phakomatosis Pigmentokeratotica	Spina bifida, Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Nep...	ORPHA:2874
Temtamy Syndrome	Thick corpus callosum, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum, Iris ...	OMIM:218340
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Foxg1 Syndrome	Optic disc hypoplasia, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum...	ORPHA:561854
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Adams-Oliver Syndrome 6	Renal hypoplasia	OMIM:616589
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618577
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Limb joint contracture, Abnormally large globe, Microcephaly, Optic atrophy, Agenesis of corpus c...	OMIM:300004
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Joubert Syndrome 23	Coloboma, Dysplastic corpus callosum	OMIM:616490
Gombo Syndrome	Microphthalmia, Microcephaly	OMIM:233270
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Lateral ventricle dilatation, Cereb...	OMIM:614219
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Cryptorchidism, Renal hypoplasia	OMIM:616817
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Retinal dystrophy, Microcephaly, Chorioretinal coloboma, Microphthalmia, Inferior c...	ORPHA:139471
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy, Lateral ventric...	OMIM:617296
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular leukomalacia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypo...	ORPHA:255138
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi...	OMIM:615095
Vici Syndrome	Abnormality of retinal pigmentation, Hypoplasia of the pons, Optic atrophy, Agenesis of corpus ca...	ORPHA:1493
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Polymicrogyria...	ORPHA:220497
Srd5A3-Cdg	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Optic atrophy, Colo...	ORPHA:324737
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Diamond-Blackfan Anemia 11	Unilateral renal agenesis	OMIM:614900
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Cryptorchidism, Albuminuria, Aminoaciduria, Death in childhood, Renal cortical micro...	OMIM:214100
Emanuel Syndrome	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Micropenis	ORPHA:96170
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Mild fetal ventriculomegaly, Agenesis of corpus callosum	OMIM:610498
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Motor axonal neuropathy, Abnormality of peripheral nerve conduction, Mic...	ORPHA:48431
Carpenter Syndrome 1	Omphalocele, Optic atrophy, Cerebral atrophy, Aplasia/Hypoplasia of the corpus callosum, Joint co...	OMIM:201000
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Later...	OMIM:619517
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Abnormality of retinal pigmentation, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Corneal scarring	ORPHA:137596
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Corticospinal tract atrophy	OMIM:551500
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Oliver-Mcfarlane Syndrome	Central heterochromia, Peripheral axonal neuropathy, Decreased response to growth hormone stimula...	OMIM:275400
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl...	ORPHA:991
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
2Q24 Microdeletion Syndrome	Microphthalmia, Coloboma, Camptodactyly of finger	ORPHA:1617
Mucolipidosis Iv	Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atrophy, Retinal degener...	OMIM:252650
Glycine Encephalopathy 1	Agenesis of corpus callosum	OMIM:605899
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Meckel Syndrome, Type 10	Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Micropenis	OMIM:614175
Cach Syndrome	Renal hypoplasia	ORPHA:135
Iniencephaly	Encephalocele, Renal agenesis, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal...	ORPHA:63259
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Alobar holoprosencephaly	OMIM:615433
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, Abnormal retinal morphology, 4-layered lissencephaly, Microlissencephaly,...	ORPHA:89844
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Pachygyria, Ventriculomegaly, Microcephaly	OMIM:617613
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Decreased response to growth hormone stimulation test, Ventriculomeg...	OMIM:615286
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Polysyndactyly With Cardiac Malformation	Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic ...	OMIM:603671
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Absent septum pell...	OMIM:609053
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Umbilical hernia, Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, ...	OMIM:615574
Meckel Syndrome 12	Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia	OMIM:616258
Mungan Syndrome	Vesicoureteral reflux, Renal hypoplasia	OMIM:611376
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hyp...	ORPHA:397951
12Q14 Microdeletion Syndrome	Syringomyelia, Renal hypoplasia, Horseshoe kidney, Ectopic kidney	ORPHA:94063
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Optic atrophy, Colpocephaly, Secondary microcephaly, Agenes...	OMIM:620352
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Hypospadias, Cryptorchidism, Renal cyst, Death in adolescence, Polycystic kidne...	OMIM:614866
Joubert Syndrome 20	Renal cyst	OMIM:614970
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Umbilical hernia, Renal hypoplasia	OMIM:618914
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Renal hypoplasia	ORPHA:254913
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Hyperintensity of ce...	OMIM:618476
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern...	ORPHA:468631
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Arthrogryposis multiplex cong...	OMIM:616342
Baraitser-Winter Syndrome 1	Microcephaly, Lissencephaly, Chorioretinal coloboma, Microphthalmia, Pachygyria, Agenesis of corp...	OMIM:243310
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Flexion contracture, Elbow f...	OMIM:214150
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Coloboma Of Macula With Type B Brachydactyly	Coloboma	OMIM:120400
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Distal Duplication 15Q	Omphalocele, Intrauterine growth retardation, Camptodactyly of finger, Microcephaly	ORPHA:1707
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k...	ORPHA:322
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Cerebral hypoplasia, Cerebellar hypoplasia, P...	ORPHA:168486
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:616602
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au...	OMIM:601596
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly	OMIM:619466
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Trisomy 20P	Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ...	ORPHA:261318
Fryns Syndrome	Omphalocele, Aganglionic megacolon, Congenital diaphragmatic hernia, Microphthalmia, Dandy-Walker...	ORPHA:2059
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum, Iris...	ORPHA:77298
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Hyperreflexia	Abnormality of retinal pigmentation, Microcephaly	OMIM:145290
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Omphalocele, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:2166
Beckwith-Wiedemann Syndrome	Cryptorchidism, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, N...	OMIM:130650
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Hydronephrosis, Spina bifida	ORPHA:2839
Hydrolethalus	Anophthalmia, Absent septum pellucidum, Hydrocephalus, Anencephaly, Microphthalmia, Agenesis of c...	ORPHA:2189
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micr...	OMIM:618454
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Subcutaneous lipoma, Cortical dysplasia, Hydrocephalus, Porencephalic c...	OMIM:613001
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Microphthalmia, Occipital meningocele, ...	OMIM:601707
Omphalocele	Omphalocele	ORPHA:660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Flexion contracture, Pigmentary retinop...	OMIM:613156
Pallister-Hall Syndrome	Decreased testicular size, Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kid...	OMIM:146510
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Hernia, Microphthalmia, Cavum septum pellucidum, Polymicrogyria, V...	OMIM:602501
Nager Syndrome	Unilateral renal agenesis	ORPHA:245
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia	ORPHA:75389
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Intrauterine growth retardation, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Matthew-Wood Syndrome	Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia, Horseshoe kidney	ORPHA:2470
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Unilateral renal agenesis, Ovarian cyst, Umbilical hernia, Enlarged ...	OMIM:618188
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus	OMIM:607361
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Leber Congenital Amaurosis 2	Optic disc pallor, Cerebellar vermis hypoplasia, Fundus atrophy, Absent foveal reflex, Pigmentary...	OMIM:204100
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Micropenis	OMIM:616541
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Shashi-Pena Syndrome	Unilateral renal agenesis	OMIM:617190
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth	OMIM:616300
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Spinocerebellar Ataxia 23	Agenesis of corpus callosum	OMIM:610245
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Microphthalmia, Agenesis of corpus callosum, Intrau...	ORPHA:228390
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia	OMIM:275100
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Spina bifida, Congenital diaphra...	ORPHA:2092
Microphthalmia, Syndromic 13	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Microcephaly	OMIM:300915
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Cerebral atrophy, Basal ganglia cysts, Agenesis of corpus callosum, Ventriculomegaly	OMIM:312170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Type II lissencephaly, Microcephaly, Hydrocephalus, Partial absence of cerebellar ...	OMIM:613150
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Coloboma, Iris coloboma	OMIM:610023
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Focal Dermal Hypoplasia	Linear hyperpigmentation, Anophthalmia, Congenital diaphragmatic hernia, Chorioretinal coloboma, ...	OMIM:305600
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Coloboma, M...	OMIM:610125
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Microcephaly, Retinal pigment epithelial mottling, Congen...	ORPHA:448237
Solitary Median Maxillary Central Incisor	Anophthalmia, Decreased response to growth hormone stimulation test, Microcephaly, Coloboma, Holo...	OMIM:147250
Autosomal Recessive Spastic Paraplegia Type 15	Peripheral axonal neuropathy, Pigmentary retinopathy, Abnormal cerebral white matter morphology, ...	ORPHA:100996
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Femoral hernia, Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria...	OMIM:620316
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Microcephaly, Hiatus hernia, Partial age...	ORPHA:50
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Type II lissencephaly, Microcephaly, Hydrocephalus, Optic atro...	OMIM:253280
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Spina bifida, Cryptorchidism, Horseshoe kidney, Multiple re...	ORPHA:99776
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Intrauterine growth retardation, Ventriculomegaly, Microcephaly	ORPHA:2515
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis	OMIM:608980
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616239
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:218350
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Renal hypoplasia, Holoprosencephaly, Neonatal death, Cystic renal dys...	OMIM:269860
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Inguinal hernia, Macular coloboma, Chorioretinal coloboma, U...	ORPHA:2196
Rere-Related Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Optic atrophy, Hypoplasia of the corpus callosum, Chorioretinal col...	ORPHA:494344
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ...	OMIM:618733
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Camptodactyly of finger, Ventriculomegaly, Microcephaly	ORPHA:251056
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Microce...	OMIM:206900
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Flexion contracture of finger, Axonal degeneration, Pigm...	ORPHA:88628
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Optic disc coloboma, Agenesis of corpus callosum, Iris coloboma	ORPHA:52055
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Renal agenesis, Renal dysplasia, Ectopic kidney	ORPHA:2578
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Meningocele, Renal cyst	ORPHA:2031
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Microceph...	ORPHA:94065
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida	ORPHA:1327
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Facial palsy, Microcephaly, Coloboma, Abnormal optic disc m...	ORPHA:508498
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Nanophthalmos 2	Microphthalmia	OMIM:609549
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Cryptorchidism, Unilateral renal agenesis	OMIM:620024
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Trigonocephaly 1	Omphalocele, Microcephaly	OMIM:190440
Trichohepatoenteric Syndrome 1	Large placenta, Galactosuria, Hypospadias, Renal cortical microcysts	OMIM:222470
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1777
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the...	OMIM:612284
Boomerang Dysplasia	Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Decreased response to growth h...	ORPHA:1263
Maternal Uniparental Disomy Of Chromosome X	Camptodactyly of finger, Microcephaly, Flexion contracture, Agenesis of corpus callosum, Hypopigm...	ORPHA:261519
Marden-Walker Syndrome	Cryptorchidism, Micropenis, Hypospadias, Renal hypoplasia	OMIM:248700
Microphthalmia, Syndromic 9	Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Neonatal death, Pelvic kid...	OMIM:601186
Methylmalonic Acidemia With Homocystinuria Type Cblf	Methylmalonic aciduria, Unilateral renal agenesis	ORPHA:79284
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves...	ORPHA:2237
Ataxia-Tapetoretinal Degeneration Syndrome	Aplasia/Hypoplasia of the cerebellum, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo...	OMIM:619244
Acromelic Frontonasal Dysplasia	Encephalocele, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Meningocele...	ORPHA:1827
Fanconi Anemia, Complementation Group L	Hydrocephalus, Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:614083
Micro Syndrome	Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Microcephaly, Optic atrophy, A...	ORPHA:2510
1Q44 Microdeletion Syndrome	Optic disc hypoplasia, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Microcephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:452
Hartsfield Syndrome	Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Microphthalmia...	ORPHA:2117
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Ventriculomegaly, Generalized hyperpigmentation, Numerous co...	ORPHA:2481
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Retinal neovascularization...	OMIM:619074
Schizophrenia 1	Partially duplicated kidney, Renal agenesis, Ectopic kidney	OMIM:181510
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Retinal dystrophy...	OMIM:608091
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Intrauterine growth retardation, Cerebral calcification, Omphalocele	ORPHA:3035
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Microphthalmia, Cerebral co...	OMIM:234050
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Omphalocele, Camptodactyly o...	OMIM:249000
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney	OMIM:602200
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Takenouchi-Kosaki Syndrome	Cryptorchidism, Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Hematuria, Nephrotic syndrome	OMIM:161200
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Anterior pituitary hypop...	ORPHA:3157
Marshall-Smith Syndrome	Omphalocele, Optic nerve hypoplasia, Absent septum pellucidum, Hydrocephalus, Cerebral atrophy, M...	OMIM:602535
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Hydrocephalus, Unilateral renal agenesis	OMIM:101800
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Spina bifida occulta, Iris coloboma	OMIM:169550
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi...	ORPHA:107
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, G...	OMIM:301056
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Aqueductal stenosis, Cryptorchidism, Hydroc...	OMIM:620305
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Inguinal hernia, Microcephaly, Partial absence of cerebellar vermis, Coloboma, Cerebellar hypopla...	ORPHA:329224
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly	OMIM:619318
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Facial palsy, Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida o...	OMIM:300373
Vacterl With Hydrocephalus	Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Hydrocephalus	ORPHA:3412
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, De...	OMIM:600145
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Spina bifida	ORPHA:1120
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Chorioretinal dysplasia, Microcephaly, Chorioretinal lacunae, Optic atrophy, ...	OMIM:152950
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Umbilical hernia, Stillbirth, Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Papilledema, Iris coloboma	ORPHA:371428
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplas...	ORPHA:457284
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Abnormal cerebral white matter morph...	ORPHA:79264
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Flexion contracture, Optic atrophy, Leukoencephalopathy, Pigmentary retinopathy, Progressive leuk...	OMIM:252011
Chromosome 13Q14 Deletion Syndrome	Inguinal hernia, Absent septum pellucidum, Retinoblastoma, Holoprosencephaly, Chorioretinal colob...	OMIM:613884
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Igg4-Related Ophthalmic Disease	Abnormality of the anterior pituitary, Abnormal optic nerve morphology, Abnormal fifth cranial ne...	ORPHA:449563
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Hydrocephalus, Cerebral cortical atrophy, Congenital diaphragmatic hernia	ORPHA:1834
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Inguinal hernia, Cerebellar vermis hypoplasia, Hydrocephalus, Camptodactyly, Agenesis of corpus c...	ORPHA:459061
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Glutathionuria	Agenesis of corpus callosum	OMIM:231950
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele	OMIM:614450
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Pigmentary retinopathy, Umbilical hernia, Agenesis of corpus callosum, Dandy-Walke...	OMIM:612582
Split Cord Malformation	Neurogenic bladder, Tethered cord, Hypospadias, Urinary incontinence, Detrusor sphincter dyssyner...	ORPHA:573278
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Rauch-Steindl Syndrome	Hyperechogenic kidneys, Bilateral renal hypoplasia, Miscarriage	OMIM:619695
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha...	OMIM:301043
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Hydrocephalus, Chorioretinal coloboma, Microphthalmia, Agenesis ...	ORPHA:268249
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Pigmentar...	OMIM:309801
Axial Osteomalacia	Renal cyst	OMIM:109130
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Lissencephaly	OMIM:300215
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Diprosopus	Abnormality of retinal pigmentation, Anencephaly	ORPHA:1681
4Q21 Microdeletion Syndrome	Intrauterine growth retardation, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculome...	ORPHA:238750
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Intrauterine growth retardation	ORPHA:195
Microform Holoprosencephaly	Microcephaly, Panhypopituitarism, Holoprosencephaly, Intrauterine growth retardation, Cyclopia, A...	ORPHA:280200
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Flexion contracture, Congenital diaphragmatic hernia, Microcephaly	OMIM:263210
Al-Gazali-Bakalinova Syndrome	Inguinal hernia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia	OMIM:613630
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Congenital Varicella Syndrome	Microcephaly, Atypical scarring of skin, Microphthalmia, Cerebral cortical atrophy, Intrauterine ...	ORPHA:291
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Stevenson-Carey Syndrome	Coloboma, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Camptodactyly, Microphthalmia...	OMIM:611961
Kapur-Toriello Syndrome	Pachygyria, Dysplastic corpus callosum, Retinal coloboma, Microphthalmia, Polymicrogyria, Iris co...	ORPHA:2328
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Premature Ovarian Failure 12	Microphthalmia, Macular dystrophy	OMIM:616947
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Fanconi Anemia, Complementation Group F	Cryptorchidism, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney	OMIM:603467
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Optic disc coloboma, Agenesis of corpus callosum, Iris coloboma	OMIM:300472
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy...	ORPHA:464311
Pierpont Syndrome	Abnormal peripheral nervous system morphology, Microphthalmia, Microcephaly	OMIM:602342
Cutis Laxa, Autosomal Recessive, Type Iib	Inguinal hernia, Microcephaly, Hydrocephalus, Intrauterine growth retardation, Agenesis of corpus...	OMIM:612940
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Isolated Posterior Meningocele	Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Hy...	ORPHA:268810
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Abruzzo-Erickson Syndrome	Coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:921
Opitz Gbbb Syndrome	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Microcephaly, Aplasia/Hypoplasia o...	ORPHA:2745
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tethered cord, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydrone...	OMIM:618460
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Microcephaly, Hydrocephalus, Microphthalmia, Agenesis of corpus callosum, Iris c...	ORPHA:250989
Bohring-Opitz Syndrome	Ventriculomegaly, Retinal atrophy, Microcephaly, Optic atrophy, Bilateral wrist flexion contractu...	ORPHA:97297
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Abruzzo-Erickson Syndrome	Coloboma	OMIM:302905
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Retinal coloboma, Hypothal...	OMIM:619775
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Micropenis, Spina bifida occulta	OMIM:151100
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Pentalogy Of Cantrell	Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly	ORPHA:1335
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Renal cyst	OMIM:614862
Hydrolethalus Syndrome 1	Omphalocele, Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Sever...	OMIM:236680
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Umbilical hernia, Recurrent urinary tract infections, Unilateral renal agenesis	ORPHA:221139
Vacterl/Vater Association	Omphalocele, Occipital encephalocele, Congenital diaphragmatic hernia, Anencephaly, Intrauterine ...	ORPHA:887
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Atypica...	ORPHA:791
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Retinal degenerati...	ORPHA:3363
Warburg Micro Syndrome 3	Microcephaly, Flexion contracture, Optic atrophy, Secondary microcephaly, Hypoplasia of the corpu...	OMIM:614222
Pierpont Syndrome	Abnormal cortical gyration, Abnormal subcutaneous fat tissue distribution, Primary microcephaly, ...	ORPHA:487825
Familial Multiple Lipomatosis	Cerebral calcification, Lipodystrophy, Increased adipose tissue, Coloboma, Chorioretinitis, Hypop...	ORPHA:199276
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Coloboma, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy	OMIM:618659
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Retinal dystrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalm...	OMIM:616538
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmi...	OMIM:616449
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Lens coloboma, Agenesis of corpus callosum, Retinal vascula...	ORPHA:42775
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Perisylvian polymicrogyria, Optic atrophy, Flexion con...	OMIM:615663
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Tethered cord, Hypospadias, Renal agenesis, Spina bifid...	OMIM:192350
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Cryptorchidism, Hydrocephalu...	ORPHA:95699
Duplication Of The Pituitary Gland	Encephalocele, Microcephaly, Abnormal pituitary gland morphology, Abnormal hypothalamus morpholog...	ORPHA:314621
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hydrocephalus, Coloboma, Intrauterine grow...	OMIM:220210
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy...	ORPHA:464306
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Neurofaciodigitorenal Syndrome	Cryptorchidism, Unilateral renal agenesis	ORPHA:2673
Frontofacionasal Dysplasia	Encephalocele, Brushfield spots, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum...	ORPHA:1791
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Retinal pigment epithelial mottling, Lateral ventricle dilatation, Hypoplasia of th...	OMIM:614105
Apert Syndrome	Absent septum pellucidum, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum, Ventriculome...	ORPHA:87
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Enuresis, Hydronephrosis	ORPHA:96121
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Camptodactyly of finger, Microcephaly, Optic disc coloboma, Coloboma, Microphtha...	ORPHA:251014
Frontorhiny	Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus cal...	ORPHA:391474
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Microcephaly	ORPHA:2528
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Decreased nerve conduction velocity, Basal ganglia calcification, Optic atrophy, Pi...	OMIM:610651
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Beare-Stevenson Cutis Gyrata Syndrome	Redundant umbilical skin, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum, Ventriculome...	OMIM:123790
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Inguinal hernia, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Latera...	ORPHA:544488
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Inguinal hernia, Microcephaly, Abnormality of the abdominal wall, Joint contracture ...	OMIM:247200
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Fryns Syndrome	Omphalocele, Aganglionic megacolon, Hypoplasia of the optic tract, Stillbirth, Aplasia of the lef...	OMIM:229850
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Microcephaly, Optic atrophy, Cerebral atrophy, Hypoplasia of...	OMIM:606812
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the ...	ORPHA:464738
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Retinal dystrophy, Microcephaly, Cerebral...	OMIM:615802
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Microcephaly, Holoprosencephaly, Cyclopia, Agenesis of corpus callosum, ...	ORPHA:261236
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Anterior pituitary hypoplasia, Microcephaly, Optic atrophy, Hypoplasia of the co...	OMIM:613457
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly	OMIM:313850
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Diastasis recti, Elevated circulating luteinizing hormone level, Elevated circulatin...	OMIM:618419
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante...	OMIM:610829
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Trisomy 13	Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia of the iris...	ORPHA:3378
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microc...	OMIM:618820
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microcephaly, Anencephaly, Camptodactyly, Microphthalmia, Cafe-au-lait spot, Agene...	OMIM:619148
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Death in infancy, Duplicated collecting system, Hypospadias, ...	OMIM:270400
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Spina bifida occulta, Small cerebral cortex, Hypoplasia of the corpus callosum, Cam...	OMIM:617360
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho...	ORPHA:816
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Microcephaly, Optic atrophy, Aplasia/Hypoplasia of the cereb...	ORPHA:2518
Bohring-Opitz Syndrome	Delayed peripheral myelination, Microcephaly, Flexion contracture, Hypoplasia of the brainstem, A...	OMIM:605039
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Encephalocele, Hypospadias, Epispadias, Exencephaly	ORPHA:2211
Developmental And Epileptic Encephalopathy 49	Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, H...	OMIM:617281
Joubert Syndrome 39	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:619562
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Hydrocephalus, Aplasia/Hypoplasia of the cere...	ORPHA:1812
Ring Chromosome 22 Syndrome	Neurofibroma, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:1446
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Coloboma, Secondary microcephaly	OMIM:618652
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Increased circulating gonadotropin level, Abnormal peripheral nerve morphology by anatomical site...	ORPHA:168563
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly, Hydrocephalus, Flexion...	ORPHA:500055
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele	OMIM:618316
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Fg Syndrome 3	Joint contracture, Agenesis of corpus callosum	OMIM:300406
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia	OMIM:618975
Otodental Dysplasia	Coloboma, Enamel hypoplasia	OMIM:166750
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Flexion con...	OMIM:609033
Poland Syndrome	Duplicated collecting system, Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidis...	ORPHA:2911
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Multiple joint contr...	ORPHA:506
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Coloboma, Iris transillumination defect, Microphthalmia, Cavum septum pellucidum, Generalized hyp...	OMIM:617306
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Large placenta, Umbilical hernia, Diastasis recti	ORPHA:254534
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Diastasis recti, Large placenta, Flexion contracture, Camptodactyly...	ORPHA:254528
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter...	OMIM:122470
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Retinal dystrophy, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Part...	OMIM:619512
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst, Death in childhood	OMIM:602579
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Microcephaly, Hydrocephalus, Optic atrophy, Abnormality of p...	ORPHA:585
Andersen-Tawil Syndrome	Renal tubular dysfunction, Renal hypoplasia	ORPHA:37553
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ...	OMIM:616819
Mmep Syndrome	Microphthalmia, Microcephaly	ORPHA:3434
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618619
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Intrauterine growth retardation, Age...	OMIM:612863
Ring Chromosome 14 Syndrome	Pigmentary retinopathy, Microcephaly	OMIM:616606
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Death in infancy, Renal malrotation, Spina bifida, Pancreatic cysts, Dilata...	OMIM:274000
Cerebrofacioarticular Syndrome	Hypospadias, Renal hypoplasia	ORPHA:314679
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Macrogyria, Li...	ORPHA:35107
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Femoral hernia, Absent septum pellucidum, Microcephaly, Subcortical cerebral atr...	ORPHA:96147
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Hyperpigmented nevi, Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Microcephaly, Holoprosencephaly, Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3186
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum, Iris coloboma	OMIM:147950
Alexander Disease	Cerebral calcification, Facial palsy, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Abnorma...	ORPHA:58
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Van Maldergem Syndrome 2	Cryptorchidism, Micropenis, Hypospadias, Renal hypoplasia	OMIM:615546
Van Maldergem Syndrome 1	Hypospadias, Renal hypoplasia	OMIM:601390
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age...	OMIM:308205
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Cryptorchidism, Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis	OMIM:619194
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Iris coloboma	OMIM:610092
Distal 22Q11.2 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Unilateral renal agenesis, Branchial fistula	ORPHA:261337
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Hydrocephalus, Tubular luminal dilatation, Renal corticomedullary cysts, Hyp...	OMIM:219730
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Flexion contracture, Cerebral cortical atrophy, Agene...	OMIM:619720
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly	ORPHA:466688
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Congenital diaphragmatic hernia	OMIM:601163
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera...	ORPHA:77299
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Canavan Disease	Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy	ORPHA:141
Orofaciodigital Syndrome V	Aganglionic megacolon, Optic disc coloboma, Agenesis of corpus callosum, Microcephaly	OMIM:174300
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Flexion contracture, Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus ...	ORPHA:481152
Warburg Micro Syndrome 2	Microcephaly, Flexion contracture, Optic atrophy, Secondary microcephaly, Hypoplasia of the corpu...	OMIM:614225
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Optic nerve hypoplasia, Decreased response to growth hormone stimula...	ORPHA:226307
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microcephaly, Knee flexion contracture, Camptodactyly, Microphthalmia, Thin corpus callosum	OMIM:619694
Ulnar-Mammary Syndrome	Cryptorchidism, Hypoplasia of penis, Renal hypoplasia	ORPHA:3138
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Microceph...	ORPHA:363528
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis, Umbilica...	ORPHA:2241
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, Chorioreti...	OMIM:212550
Distal Triplication 15Q	Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pelvis, Horseshoe kidney, Hydro...	ORPHA:314588
Developmental And Epileptic Encephalopathy 89	Omphalocele, Flexion contracture, Cerebral atrophy, Hypoplasia of the corpus callosum, Neonatal d...	OMIM:619124
Immunodeficiency 49	Umbilical hernia, Agenesis of corpus callosum, Reduced cerebral white matter volume	OMIM:617237
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Optic nerve...	ORPHA:95494
Agnathia-Otocephaly Complex	Agenesis of corpus callosum, Holoprosencephaly	OMIM:202650
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Microcephaly	OMIM:278780
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Diffuse cerebral atrophy	ORPHA:363654
Jacobsen Syndrome	Death in infancy, Multicystic kidney dysplasia, Spina bifida, Cryptorchidism, Hydronephrosis	ORPHA:2308
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Limb Body Wall Complex	Encephalocele, Abnormality of the kidney, Spina bifida, Myelomeningocele, Hydrocephalus, Abnormal...	ORPHA:2369
Acrocallosal Syndrome	Inguinal hernia, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, Coloboma, Umbilical he...	OMIM:200990
Otopalatodigital Syndrome Type 2	Encephalocele, Omphalocele, Camptodactyly of finger, Myelomeningocele, Hydrocephalus, Cerebellar ...	ORPHA:90652
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Holoprosencephaly 14	Ventriculomegaly, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microc...	OMIM:619895
Cln3 Disease	Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy, Generalized cerebral atrophy/hypop...	ORPHA:228346
Microphthalmia, Lenz Type	Camptodactyly of finger, Microcephaly, Optic disc coloboma, Aplasia/Hypoplasia of the corpus call...	ORPHA:568
Fraser Syndrome	Encephalocele, Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, ...	ORPHA:2052
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes...	ORPHA:1873
Galloway-Mowat Syndrome 1	Dandy-Walker malformation, Microcephaly, Hiatus hernia, Optic atrophy, Cerebral atrophy, Hypoplas...	OMIM:251300
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Retinitis, Microcephaly, Partial agenesis ...	OMIM:615948
Histiocytoid Cardiomyopathy	Hydrocephalus, Optic atrophy, Microphthalmia, Agenesis of corpus callosum, Congenital aphakia	ORPHA:137675
Leigh Syndrome	Pigmentary retinopathy, Focal substantia nigra T2 hyperintensity, Optic atrophy	OMIM:256000
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Retinal d...	OMIM:608629
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Unilateral renal agenesis	OMIM:154400
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Genitopalatocardiac Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Hydrocephalus	ORPHA:2075
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Cataract 9, Multiple Types	Microphthalmia, Iris coloboma	OMIM:604219
Braddock-Carey Syndrome 1	Enamel hypoplasia, Agenesis of corpus callosum, Camptodactyly, Microcephaly	OMIM:619980
Toriello-Carey Syndrome	Aganglionic megacolon, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, H...	ORPHA:3338
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Kinsship Syndrome	Death in infancy, Renal hypoplasia, Horseshoe kidney	OMIM:619297
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy, Cerebellar hypoplasia, Lipoma, Hyperintensity of cereb...	ORPHA:502423
Jacobsen Syndrome	Microcephaly, Hydrocephalus, Flexion contracture, Optic atrophy, Macular hypoplasia, Holoprosence...	OMIM:147791
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Abnormal cerebral white matter morphology, Dilated third ventricle, Optic atrophy, Cerebral atrophy	ORPHA:314404
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Iris coloboma, Hypoplasia of the corpus callosum	OMIM:618872
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Microcephaly, Aplasia/Hypoplasia of the iris, Microphthalmia...	ORPHA:290
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Spina bifida, ...	ORPHA:84
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis	OMIM:181270
Fibular Hemimelia	Renal dysplasia, Spina bifida	ORPHA:93323
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia	OMIM:615524
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis...	ORPHA:157
Trichothiodystrophy	Ventriculomegaly, Multiple joint contractures, Cerebral dysmyelination, Microcephaly, Partial age...	ORPHA:33364
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Eye of the tiger anomaly of globus...	ORPHA:216866
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Agenesis of corpus callosum, Ve...	ORPHA:264200
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ...	OMIM:620113
22Q11.2 Deletion Syndrome	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Renal hypoplasia, Occipita...	ORPHA:567
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Lipodystrophy, Absent septum pellucidum, Cerebral atrophy, Agenesis of co...	ORPHA:2396
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Coloboma, Lipomas of eyelids	OMIM:167730
Intellectual Developmental Disorder, Autosomal Recessive 65	Inguinal hernia, Partial agenesis of the corpus callosum, Contracture of the proximal interphalan...	OMIM:618109
Developmental And Epileptic Encephalopathy 1	Global brain atrophy, Microphthalmia, Ventriculomegaly, Microcephaly	OMIM:308350
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Hydrocephalus, Micropenis, Renal hypoplasia	OMIM:619321
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Decreas...	OMIM:216550
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis	OMIM:213980
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Mosaic Variegated Aneuploidy Syndrome 1	Hypodysplasia of the corpus callosum, Microcephaly, Hydrocephalus, Cerebral hypoplasia, Cerebella...	OMIM:257300
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Microcephaly, Holoprosencephal...	OMIM:157170
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag...	ORPHA:897
Melas	Peripheral axonal neuropathy, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calc...	ORPHA:550
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Elbow f...	OMIM:151050
Charge Syndrome	Omphalocele, Anophthalmia, Facial palsy, Decreased response to growth hormone stimulation test, M...	OMIM:214800
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Microcephaly	OMIM:609625
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Microcephaly, Bilateral microphthalmos, Coloboma, Multiple lipomas, Microphth...	ORPHA:2399
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Flexion contracture, Diastasis recti	OMIM:608149
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Flexion contr...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Flexion contr...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Flexion contr...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Flexion contr...	ORPHA:220386
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Fanconi Anemia, Complementation Group G	Multiple cafe-au-lait spots, Microphthalmia, Microcephaly	OMIM:614082
Fraser Syndrome 1	Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Myelomeningocele, Hydroceph...	OMIM:219000
Ritscher-Schinzel Syndrome 4	Mild fetal ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker mal...	OMIM:619435
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida	OMIM:162200
Trisomy 17P	Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Polycystic kidney dysplasi...	ORPHA:261290
Odontochondrodysplasia 1	Death in infancy, Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Isolated Anencephaly	Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia	ORPHA:563609
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Microcephaly, Coloboma, Branchial anomaly, Abnormal autonomic nervous system physiology, Hypoplas...	ORPHA:453499
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Flexion contracture, Large basal ganglia, Agenesis of corpus callos...	ORPHA:261552
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Thakker-Donnai Syndrome	Communicating hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum, Congen...	ORPHA:1780
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Optic atrophy, Facial palsy	OMIM:615085
8Q24.3 Microdeletion Syndrome	Branchial cyst, Abnormality of the kidney, Unilateral renal agenesis, Bilateral renal hypoplasia,...	ORPHA:508488
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ...	OMIM:620073
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Ab...	ORPHA:2556
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Holoprosencephaly, Unilateral renal agenesis	ORPHA:141099
Epidermal Nevus Syndrome	Spinal cord compression, Atrophy of the spinal cord, Spinal cord tumor, Polycystic kidney dysplasia	ORPHA:35125
Neu-Laxova Syndrome 2	Spina bifida	OMIM:616038
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Microcephaly, Flexion contracture, Optic atrophy, Agenesis of corpus callo...	ORPHA:847
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Coloboma, Branchial anomaly, Abnormal optic nerve morpholog...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Coloboma, Branchial anomaly, Abnormal optic nerve morpholog...	ORPHA:352665
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Campomelia, Cumming Type	Pancreatic cysts, Death in infancy, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Hydrocephalus, Flexion contrac...	OMIM:309900
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620250
Simpson-Golabi-Behmel Syndrome	Omphalocele, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Aplasia/H...	ORPHA:373
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Sandestig-Stefanova Syndrome	Hypoplasia of the corpus callosum, Camptodactyly, Microphthalmia, Primary microcephaly, Ventricul...	OMIM:618804
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Joubert Syndrome 8	Occipital encephalocele, Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Meckel Syndrome	Encephalocele, Anophthalmia, Abnormal chorioretinal morphology, Microcephaly, Hydrocephalus, Anen...	ORPHA:564
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele	OMIM:617895
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exudative vitreore...	ORPHA:2788
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Anterior hypopituitarism	ORPHA:480
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Spina bifida, Cryptorchidis...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Spina bifida, Cryptorchidis...	ORPHA:363958
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism	ORPHA:110
Isolated Exencephaly	Anterior pituitary hypoplasia, Holoprosencephaly, Posterior pituitary agenesis, Aplasia/Hypoplasi...	ORPHA:563612
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Contracture of the proximal ...	ORPHA:314585
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Renal cyst, Stillbirth, Polycy...	OMIM:210710
Multiple Benign Circumferential Skin Creases On Limbs	Inguinal hernia, Microcephaly, Umbilical hernia, Microphthalmia, Irregular hyperpigmentation, Ret...	ORPHA:2505
Neu-Laxova Syndrome 1	Hydranencephaly, Renal agenesis, Spina bifida, Cryptorchidism, Stillbirth, Short umbilical cord, ...	OMIM:256520
Desmosterolosis	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:602398
Chromosome 9P Deletion Syndrome	Omphalocele, Inguinal hernia, Fair hair	OMIM:158170
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
3Mc Syndrome 1	Omphalocele, Diastasis recti, Microcephaly, Abnormality of the abdominal wall, Spina bifida occulta	OMIM:257920
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Abnormal periventricular white matter morphology, Dilated third ventricle, Microcephaly	OMIM:619725
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Microcephaly, Optic atrophy, Abnorm...	ORPHA:193
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Femoral hernia, Absent septum pellucidum, Facial palsy, Abnormal dental enamel m...	ORPHA:2658
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum	OMIM:613174
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Dilat...	ORPHA:268261
Mulibrey Nanism	Pigmentary retinopathy, Intrauterine growth retardation, Enamel hypoplasia, Iris coloboma, Ventri...	OMIM:253250
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Tethered cord, Cr...	OMIM:107480
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Wolfram Syndrome 1	Pigmentary retinopathy, Neurogenic bladder, Optic atrophy, Cerebral atrophy	OMIM:222300
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Fibrochondrogenesis 1	Omphalocele, Joint contracture of the hand, Stillbirth, Camptodactyly	OMIM:228520
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Rod-cone dystrophy, Phthisis ...	OMIM:612109
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lateral ventricle dilatation, Agenesis of corpus callosum, Hyperpigmented streaks	OMIM:300952
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Hydrocephalus, Polycystic kidney dysplasia	OMIM:617866
Bladder Exstrophy	Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Opitz Gbbb Syndrome	Inguinal hernia, Cerebellar vermis hypoplasia, Microcephaly, Umbilical hernia, Agenesis of corpus...	OMIM:300000
Orofaciodigital Syndrome Type 5	Aganglionic megacolon, Enamel hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum	OMIM:618929
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Occipital meningocele, ...	OMIM:277170
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Intellectual Developmental Disorder, Autosomal Dominant 22	Intrauterine growth retardation, Agenesis of corpus callosum, Microcephaly	OMIM:612337
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Abnormal peripheral myelination, Abnormal auditory evoked po...	OMIM:133540
Cerebrooculofacioskeletal Syndrome 4	Abnormal retinal morphology, Camptodactyly of finger, Microcephaly, Bilateral microphthalmos, Elb...	OMIM:610758
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Aganglionic megacolon, Absent septum pellucidum, Abnormal dental en...	ORPHA:2273
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Coloboma, Chorioretinal colobo...	ORPHA:959
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla...	OMIM:612651
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Leukoencephalopathy	OMIM:619473
Xk Aprosencephaly Syndrome	Microphthalmia, Microcephaly	ORPHA:3469
Diamond-Blackfan Anemia 1	Spina bifida occulta, Renal hypoplasia	OMIM:105650
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Moebius Syndrome	Facial diplegia, Hypoplasia of the brainstem, Camptodactyly, Microphthalmia, Arthrogryposis multi...	OMIM:157900
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu...	OMIM:618500
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Radio-Tartaglia Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:619312
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Ventriculomegaly, Microcephaly	OMIM:619059
Chromosome Xp11.3 Deletion Syndrome	Microcephaly, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal b...	OMIM:300578
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at...	OMIM:208540
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Norrie Disease	Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp...	OMIM:310600
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Renal cyst, Horseshoe kidney	ORPHA:166035
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Microcephaly, Aplasia/Hypoplasia of ...	ORPHA:2714
Kapur-Toriello Syndrome	Camptodactyly of finger, Pachygyria, Joint contracture of the hand, Retinal coloboma, Microphthal...	OMIM:244300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Elbow flexion contracture, Knee flexi...	OMIM:608836
Linear Nevus Sebaceus Syndrome	Cerebral calcification, Porencephalic cyst, Melanocytic nevus, Aplasia/Hypoplasia of the corpus c...	ORPHA:2612
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Microcephaly, Optic atrophy, Agenesis of corpus callosum, Hernia...	ORPHA:280
Codas Syndrome	Omphalocele, Enamel hypoplasia, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:600373
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Leukoencephalopat...	ORPHA:79282
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Otopalatodigital Syndrome, Type I	Omphalocele	OMIM:311300
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Campomelic Dysplasia	Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Hydronephrosis	OMIM:114290
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Constricting Bands, Congenital	Encephalocele, Bladder exstrophy, Omphalocele, Gastroschisis	OMIM:217100
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Hypoplasia of ...	OMIM:617260
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele	OMIM:601927
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Occipital meningocele, Micropenis	OMIM:616546
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Retinal coloboma...	ORPHA:434179
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon, Intrauterine growth retardation	ORPHA:1438
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Microcephaly-Micromelia Syndrome	Microcephaly, Aqueductal stenosis, Simplified gyral pattern, Aplasia/Hypoplasia of the corpus cal...	OMIM:251230
Holoprosencephaly 1	Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, Cyclopia, Ethmocep...	OMIM:236100
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Hyperechogenic kidneys, Renal cyst	OMIM:615636
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc...	OMIM:619103
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Generalized hyperpigmentation, Agenesis of corpus callosum, Absent septum ...	ORPHA:3339
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig...	ORPHA:2715
Cystic Echinococcosis	Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, Hepatic cysts	ORPHA:400
Fanconi Anemia, Complementation Group D2	Microcephaly, Hydrocephalus, Abnormality of skin pigmentation, Hypoplasia of the corpus callosum,...	OMIM:227646
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Hallermann-Streiff Syndrome	Spina bifida, Microcephaly, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris col...	OMIM:234100
Joubert Syndrome 1	Nephropathy, Renal cyst, Occipital myelomeningocele	OMIM:213300
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Coloboma	OMIM:616789
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Camptodactyly	OMIM:618529
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism	OMIM:603546
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Microcephaly, Optic atrophy, Aplasia/Hypoplasia of the corpu...	ORPHA:192
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cryptorchidism, Renal hypoplasia	OMIM:620005
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Unilateral facial palsy, Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida	OMIM:619480
Autosomal Dominant Cutis Laxa	Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis	ORPHA:90348
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Microcephaly, Holoprosencephaly, Cerebellar hypoplasia, Micropht...	OMIM:612530
Teebi Hypertelorism Syndrome 1	Omphalocele	OMIM:145420
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Monosomy 18P	Microphthalmia, Holoprosencephaly, Microcephaly	ORPHA:1598
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce...	OMIM:311200
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Hydrocephalus	ORPHA:2736
Neu-Laxova Syndrome	Spina bifida	ORPHA:2671
Heart And Brain Malformation Syndrome	Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Cerebral atrophy, Hypoplasia...	OMIM:616920
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Intrauterine growth retardation, Enamel hypoplasia	OMIM:243150
Melnick-Needles Syndrome	Omphalocele	ORPHA:2484
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Cranium bifidum occultum, Microphthalmia, Agenesis ...	ORPHA:306542
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Peripheral retinal avascularization, Interphalangeal joint contracture of finger, Di...	ORPHA:96334
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia, Hydroneph...	OMIM:304120
Kagami-Ogata Syndrome	Omphalocele, Large placenta, Inguinal hernia, Diastasis recti	ORPHA:254519
Pancreatic Agenesis-Holoprosencephaly Syndrome	Intrauterine growth retardation, Agenesis of corpus callosum, Holoprosencephaly, Semilobar holopr...	ORPHA:556955
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Intrauterine growth retardation	ORPHA:163966
Pallister-Hall Syndrome	Renal dysplasia, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Bilatera...	ORPHA:672
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Nephro...	ORPHA:1454
Opitz-Kaveggia Syndrome	Inguinal hernia, Multiple joint contractures, Hydrocephalus, Partial agenesis of the corpus callo...	OMIM:305450
Otodental Syndrome	Abnormal dental enamel morphology, Lens coloboma, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Kleefstra Syndrome	Microcephaly, Hernia, Agenesis of corpus callosum, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:261494
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Williams Syndrome	Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref...	ORPHA:904
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Porencephalic cyst, Microphthalmia, Periventricular leukomalacia	ORPHA:974
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid	ORPHA:209956
Digeorge Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydrocele testis, Hydronephrosis, Ovarian cyst, U...	OMIM:188400
Renpenning Syndrome 1	Hypospadias, Phimosis, Renal hypoplasia, Death in childhood, Decreased testicular size	OMIM:309500
Degcags Syndrome	Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull...	OMIM:619488
Zellweger Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydronephrosis	ORPHA:912
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia, Death in childhood	OMIM:214110
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Agenesis of corpus callosum, Cerebellar hypoplasia, Hernia, Microcephaly	OMIM:217980
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Abnormal peripheral myelin...	OMIM:216400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Hydrocephalus, Intrauterine growth retardation	OMIM:300863
Ulnar Hemimelia	Spinal dysraphism	ORPHA:93320
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Vici Syndrome	Hypopigmentation of hair, Schizencephaly, Cerebellar vermis hypoplasia, Macular atrophy, Albinism...	OMIM:242840
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Spondylo-Ocular Syndrome	Microphthalmia, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Umbilical hernia, Spi...	OMIM:135900
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Flexion contracture, Microphthalmia, Intrauterine growth retardatio...	OMIM:263650
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst	ORPHA:488618
Manitoba Oculotrichoanal Syndrome	Omphalocele, Microphthalmia, Anophthalmia	OMIM:248450
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Mismatch Repair Cancer Syndrome 1	Axillary freckling, Agenesis of corpus callosum, Plexiform neurofibroma, Multiple cafe-au-lait sp...	OMIM:276300
Lethal Congenital Contracture Syndrome 10	Omphalocele, Intrauterine growth retardation	OMIM:617022
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Meckel Syndrome 14	Occipital encephalocele, Holoprosencephaly, Polycystic kidney dysplasia	OMIM:619879
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, F...	ORPHA:466768
Frontonasal Dysplasia 2	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Microcephaly, Hypopla...	OMIM:613451
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Distal arthrogryposis, Retinal fold, Congenital finger flexi...	OMIM:108145
Mowat-Wilson Syndrome	Aganglionic megacolon, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal...	OMIM:235730
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Hypopigmentation of the skin, Hemimegalencephaly	OMIM:163200
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Retinal detachment, Iris coloboma, Macular coloboma	OMIM:615145
Incontinentia Pigmenti	Retinal detachment, Abnormal chorioretinal morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Cerebellar...	OMIM:606519
Galloway-Mowat Syndrome 3	Microcephaly, Hiatus hernia, Simplified gyral pattern, Cerebral atrophy, Lissencephaly, Hypoplasi...	OMIM:617729
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Cerebellar hypoplasia	OMIM:306955
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Severe intrauterine growth r...	OMIM:241410
Joubert Syndrome 37	Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum	OMIM:619185
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Tethered cord, Renal hypoplasia	OMIM:617157
Craniofrontonasal Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Hypoplasia of the...	OMIM:304110
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ...	ORPHA:83461
Ring Chromosome 13 Syndrome	Abnormal retinal morphology, Microcephaly, Anencephaly, Abnormality of skin pigmentation, Retinob...	ORPHA:96176
Rubinstein-Taybi Syndrome 1	Hypospadias, Spina bifida, Bilateral cryptorchidism, Cryptorchidism, Spina bifida occulta, Hydron...	OMIM:180849
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpu...	OMIM:101200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Ren...	OMIM:208500
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Renal cyst	OMIM:617478
Von Hippel-Lindau Syndrome	Pancreatic cysts, Spinal hemangioblastoma, Renal cell carcinoma, Multiple renal cysts, Epididymal...	OMIM:193300
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Anophthalmia, Foot joint contracture, Hypermelanotic macule,...	ORPHA:90321
Meckel Syndrome, Type 7	Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney...	OMIM:267010
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Inguinal hernia	ORPHA:1135
Microphthalmia, Syndromic 8	Microphthalmia, Microcephaly	OMIM:601349
Alg9-Cdg	Omphalocele, Progressive microcephaly, Lipodystrophy, Cerebral atrophy	ORPHA:79328
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Abnormality of retinal pigmentation	ORPHA:3085
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the abdominal wall musculature, Retino...	ORPHA:578
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Gland...	ORPHA:2473
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Tethered cord, Epispadias, Vesicovagin...	OMIM:258040
Sotos Syndrome	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:117550
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle...	ORPHA:157850
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Flexion contracture, Agenesis of corpus callosum	OMIM:309520
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele	ORPHA:3329
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Intrauterine growth retardation, Camptodactyly of finger, Microcephaly	OMIM:610756
Anterior Segment Dysgenesis 2	Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia	OMIM:610256
Ramon Syndrome	Abnormality of retinal pigmentation, Abnormal dental enamel morphology	ORPHA:3019
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,...	ORPHA:857
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Death in chi...	OMIM:212065
Charge Syndrome	Anophthalmia, Facial palsy, Microcephaly, Aqueductal stenosis, Optic atrophy, Intrauterine growth...	ORPHA:138
Trisomy 8P	Multiple joint contractures, Microcephaly, Hydrocephalus, Hernia, Agenesis of corpus callosum, He...	ORPHA:264450
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Scarring, Microcephaly, Retinal vascular proliferati...	OMIM:308300
Genitopatellar Syndrome	Hip contracture, Microcephaly, Knee flexion contracture, Arthrogryposis multiplex congenita, Agen...	ORPHA:85201
Fibrochondrogenesis	Omphalocele, Camptodactyly of finger	ORPHA:2021
2Q37 Microdeletion Syndrome	Umbilical hernia, Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Seckel Syndrome 2	Few cafe-au-lait spots, Microphthalmia, Cerebellar hypoplasia, Microcephaly	OMIM:606744
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Colobom...	OMIM:607932
Monosomy 13Q14	Microcephaly, Holoprosencephaly, Hypoplasia of the corpus callosum, Microphthalmia, Retinoblastom...	ORPHA:1587
21Q22.11Q22.12 Microdeletion Syndrome	Periorbital hyperpigmentation, Agenesis of corpus callosum, Camptodactyly, Microcephaly	ORPHA:261323
8P Inverted Duplication/Deletion Syndrome	Contractures of the large joints, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walke...	ORPHA:96092
Mosaic Trisomy 8	Camptodactyly of finger, Hypopigmented skin patches, Agenesis of corpus callosum, Arthrogryposis ...	ORPHA:96061
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Anterior pituit...	OMIM:619841
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Umbilical hernia, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Monosomy 9Q22.3	Hydrocephalus, Calcification of falx cerebri, Microphthalmia, Umbilical hernia, Retinopathy, Vent...	ORPHA:77301
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Macular atrophy, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ve...	OMIM:619418
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Fanconi Anemia, Complementation Group R	Microphthalmia, Hydrocephalus, Microcephaly	OMIM:617244
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Syringomyelia	ORPHA:261197
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Williams-Beuren Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urethral stenosis, Abnormal renal morpho...	OMIM:194050
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Holoprosencephaly, Microcephaly	ORPHA:2163
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger, Microcephaly	ORPHA:2521
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Periventricular cysts, Increased caudate lactate level, Hyperinten...	ORPHA:3008
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Retinal detachment, Hypopigmentation of the fundus	ORPHA:163649
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Martsolf Syndrome 1	Enlarged sylvian cistern, Inguinal hernia, Microcephaly, Periventricular white matter hyperintens...	OMIM:212720
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Camptodactyly of finger, Microcephaly, Hydrocephalus, Optic disc coloboma, Opt...	OMIM:607872
Oculofaciocardiodental Syndrome	Retinal detachment, Flexion contracture of the 2nd toe, Microphthalmia, Iris coloboma, Flexion co...	ORPHA:2712
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Hydron...	ORPHA:93271
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Focal cortical dysplasia, Schizencephaly, Retinal arteriolar tortuosity, Hydrocephalus, Porenceph...	OMIM:175780
Fanconi Anemia, Complementation Group J	Multiple cafe-au-lait spots, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Renal hypoplasia	OMIM:270100
3P25.3 Microdeletion Syndrome	Microphthalmia, Cerebral white matter atrophy, Abnormal thalamus morphology, Knee flexion contrac...	ORPHA:435638
Okamoto Syndrome	Tethered cord, Urinary incontinence, Unilateral renal hypoplasia, Syringomyelia, Ureteropelvic ju...	ORPHA:2729
Kabuki Syndrome	Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Coloboma, Cerebral cortical atrophy...	ORPHA:2322
Monosomy 13Q34	Agenesis of corpus callosum, Microcephaly	ORPHA:96168
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Hartsfield Syndrome	Alobar holoprosencephaly, Microcephaly, Gonadotropin deficiency, Lobar holoprosencephaly, Agenesi...	OMIM:615465
Esophageal Atresia	Omphalocele, Coloboma	ORPHA:1199
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Cerebral calcification, Hydrocephalus, Flexion contracture, ...	ORPHA:505248
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bilateral renal dysplasia, Unilateral renal agenesis, Horseshoe kidney	ORPHA:500150
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Microcephaly, Hydrocephalus, Neurofibroma, Melanocytic nevus, Abnormality of skin pigmentation, C...	OMIM:619475
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc...	ORPHA:99880
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k...	ORPHA:26791
Chromosome 8Q21.11 Deletion Syndrome	Lozenge-shaped umbilicus, Pigmentary retinopathy, Hypoplasia of the corpus callosum, Camptodactyl...	OMIM:614230
Mend Syndrome	Abnormal auditory evoked potentials, Hydrocephalus, Spotty hypopigmentation, Hypoplasia of the co...	ORPHA:401973
Alg3-Cdg	Neural tube defect	ORPHA:79321
Nance-Horan Syndrome	Microphthalmia, Retinal detachment	ORPHA:627
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Basal ganglia calcification, Microphthalmia	OMIM:127000
Ulbright-Hodes Syndrome	Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Xp21 Deletion Syndrome	Agenesis of corpus callosum	ORPHA:261476
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Coloboma, Microcephaly	ORPHA:251028
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Hydrocephalus	OMIM:602361
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Scarring alopecia of scalp, Optic atrophy, Enamel hypoplasia	OMIM:618727
Pierson Syndrome	Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu...	OMIM:609049
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Unilateral renal agenesis, Cryptorchidism, Urinary urgency, Micropenis, Pelvic kidney	OMIM:619503
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Progressive leukoencephalopathy, Optic atrophy	ORPHA:436271
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc...	ORPHA:143
Baller-Gerold Syndrome	Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Severe intrauterine growth retardation, Spi...	OMIM:218600
Braddock-Carey Syndrome 2	Microphthalmia, Microcephaly	OMIM:619981
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling, Hypoplasia of the corpus callosum	OMIM:617102
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Hiatus hernia, Microphthalmia...	ORPHA:2538
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Inguinal hernia	ORPHA:3191
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
17Q12 Microduplication Syndrome	Microphthalmia, Cortical dysplasia	ORPHA:261272
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Limb joint contracture, Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Right Atrial Isomerism	Inguinal hernia, Agenesis of corpus callosum	OMIM:208530
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Cartilage-Hair Hypoplasia	Mucopolysacchariduria, Spinal dysraphism	ORPHA:175
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Abnormal corpus striatum morphology, Optic disc hypoplasia, ...	ORPHA:3455
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, A...	ORPHA:580
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Ablepharon Macrostomia Syndrome	Abnormality of skin pigmentation, Umbilical hernia, Omphalocele, Camptodactyly of finger	ORPHA:920
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Camptodactyly of finger, Abnor...	ORPHA:217093
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Camptodactyly	OMIM:616894
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Unilateral renal hypoplasia, Macroorchidism	OMIM:619950
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Inferior cerebellar vermis hypoplasia, Retinal coloboma	OMIM:618571
Hajdu-Cheney Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Renal cyst, Polycystic kidney dysplasia, Umbilical he...	OMIM:102500
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Microphakia	ORPHA:171844
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Large placenta, M...	ORPHA:116
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos, Arthrogryposis-like hand anomaly, Camptodactyly	ORPHA:369891
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Leukoencephalopathy	OMIM:220110
Wolf-Hirschhorn Syndrome	Rieger anomaly, Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Cav...	OMIM:194190
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Microcephaly	OMIM:257910
Refsum Disease	Microphthalmia, Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Mosaic Variegated Aneuploidy Syndrome	Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Ab...	ORPHA:1052
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau...	ORPHA:369837
Cousin Syndrome	Hydrocephalus, Camptodactyly, Hydranencephaly, Microphthalmia, Joint contracture of the hand, Wri...	OMIM:260660
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Spina bifida occulta, Nephroblastoma, Bifid uret...	ORPHA:500095
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Umbilical her...	OMIM:261540
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Intrauterine growth retardation, Knee flexion contracture	ORPHA:3208
Fetal Alcohol Syndrome	Microphthalmia, Intrauterine growth retardation, Congenital diaphragmatic hernia, Microcephaly	ORPHA:1915
Myoclonic-Astatic Epilepsy	Microphthalmia, Microcephaly	ORPHA:1942
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy	OMIM:268020
Monosomy 9P	Congenital diaphragmatic hernia, Microcephaly, Hernia, Microphthalmia, Agenesis of corpus callosum	ORPHA:261112
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Desmoid Tumor	Abnormality of retinal pigmentation, Abnormality of the abdominal wall	ORPHA:873
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Microcephaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1824
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cerebellar vermis hypoplasia, Chorioretinal coloboma	OMIM:619135
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe...	OMIM:613254
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Aceruloplasminemia	Abnormality of retinal pigmentation, Abnormal thalamic MRI signal intensity, Macular degeneration...	ORPHA:48818
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cerebellar hypoplasia	OMIM:618805
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang...	ORPHA:538
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Hypopituitarism, Microcephaly	OMIM:600462
Brain-Lung-Thyroid Syndrome	Cavum septum pellucidum, Agenesis of corpus callosum, Microcephaly	ORPHA:209905
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Neurogenic bladder, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
3Q29 Microduplication Syndrome	Microcephaly, Aniridia, Microphthalmia, Iris coloboma, Camptodactyly of toe	ORPHA:251038
Coffin-Siris Syndrome	Microcephaly, Simplified gyral pattern, Hernia, Intrauterine growth retardation, Agenesis of corp...	ORPHA:1465
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hypospadias, Cryptorchidism, Renal hypoplasia, Vesicoureteral reflux, Micropenis, Decreased testi...	OMIM:309580
Steinfeld Syndrome	Microphthalmia, Iris coloboma, Retinal coloboma, Holoprosencephaly	OMIM:184705
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination, Microcephaly, Microphthalmia, Cafe-au-lait spot, Intrauterine gro...	ORPHA:364577
Cat Eye Syndrome	Microphthalmia, Umbilical hernia, Iris coloboma, Chorioretinal coloboma	OMIM:115470
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Alveolar Echinococcosis	Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst	ORPHA:284
C Syndrome	Omphalocele, Congenital diaphragmatic hernia, Microcephaly, Aplasia/Hypoplasia of the abdominal w...	ORPHA:1308
Kaposiform Lymphangiomatosis	Pancreatic cysts, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Dubowitz Syndrome	Inguinal hernia, Microcephaly, Hypoplasia of the iris, Microphthalmia, Rod-cone dystrophy, Iris c...	OMIM:223370
Adams-Oliver Syndrome 1	Encephalocele, Periventricular leukomalacia, Microcephaly, Cortical dysplasia, Hypoplasia of the ...	OMIM:100300
1P36 Deletion Syndrome	Camptodactyly of finger, Microcephaly, Optic atrophy, Ocular albinism, Agenesis of corpus callosu...	ORPHA:1606
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger	ORPHA:2547
Mucopolysaccharidosis Type 3	Ventriculomegaly, Inguinal hernia, Hydrocephalus, Flexion contracture, Optic atrophy, Pigmentary ...	ORPHA:581
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation, Ocular albinism, Microcephaly	ORPHA:1352
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Generalized hyperpigmentation, Elevated circulating luteinizing hormone level, Adrenocorticotropi...	ORPHA:168558
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi...	OMIM:266920
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Microcephaly, Phthisis...	OMIM:300166
Fanconi Anemia, Complementation Group S	Microphthalmia, Microcephaly	OMIM:617883
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia	OMIM:606232
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Generalized hyperpigmentation, Elevated circulating luteinizing hormone level, Adrenocorticotropi...	ORPHA:289548
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal death, Omphalocele, Diastasis recti, Ventriculomegaly	OMIM:265380
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hydrocephalus, Hypopigmented ...	ORPHA:636
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Cree Mental Retardation Syndrome	Coloboma	OMIM:606851
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation, Multiple lipomas	ORPHA:122
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Retinal nonattachment, Buphthalmos, Micr...	OMIM:221900
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Abnormal thalamus morphology	ORPHA:404440
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Microcephaly, Unilateral microphthalmos, Cafe-au-lait spot, Enamel hypoplasia, Polymicrogyria, Ir...	OMIM:618874
Cardiac Diverticulum	Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti	ORPHA:1686
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Coloboma, Anophthalmia	OMIM:615877
Melnick-Needles Syndrome	Omphalocele, Stillbirth	OMIM:309350
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Leprosy	Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomic nervous s...	ORPHA:548
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:156610
8Q21.11 Microdeletion Syndrome	Microphthalmia, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Iris hypopigm...	ORPHA:284160
Perlman Syndrome	Hypoplasia of the abdominal wall musculature, Agenesis of corpus callosum, Congenital diaphragmat...	OMIM:267000
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Yunis-Varon Syndrome	Hydrocephalus, Bilateral microphthalmos, Hypoplasia of the frontal lobes, Cerebellar hypoplasia, ...	ORPHA:3472
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Limb joint contracture, Achilles tendon contracture, ...	ORPHA:404454
Coffin-Siris Syndrome 4	Intrauterine growth retardation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcep...	OMIM:614609
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Abnormal cerebral white matter morphology,...	ORPHA:506358
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Basal ganglia calcification, Bilateral microphthalmos, Retinal calcification, Intrau...	ORPHA:93325
Microphthalmia With Limb Anomalies	Hydrocephalus, Optic atrophy, Camptodactyly of 2nd-5th fingers, Microphthalmia, True anophthalmia	ORPHA:1106
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Schinzel-Giedion Syndrome	Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Neural tube ...	ORPHA:798
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	D-2-hydroxyglutaric aciduria, Unilateral renal agenesis	ORPHA:99646
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Umbilical hernia	ORPHA:1519
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation, Hernia	ORPHA:394
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Joint contracture of the 5th finger, Microcephaly	OMIM:620098
D-Bifunctional Protein Deficiency	Renal cyst	OMIM:261515
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Facial palsy, Optic disc coloboma, Microphthalmia, Iris coloboma, Intrauterine gr...	OMIM:620186
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Camptodactyly of finger, Abnor...	ORPHA:217085
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Aganglionic megacolon, Focal hypointensity of cerebral white matte...	ORPHA:261537
Witteveen-Kolk Syndrome	Branchial fistula, Inguinal hernia, Decreased response to growth hormone stimulation test, Congen...	OMIM:613406
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Branchiooculofacial Syndrome	Anophthalmia, Agenesis of cerebellar vermis, Facial palsy, Microcephaly, Elbow flexion contractur...	OMIM:113620
Atelis Syndrome 2	Microphthalmia, Vitreous hemorrhage, Remnants of the hyaloid vascular system, Microcephaly	OMIM:620185
Lowry-Wood Syndrome	Pigmentary retinopathy, Intrauterine growth retardation, Elbow flexion contracture, Microcephaly	OMIM:226960
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia, Iris coloboma	OMIM:269400
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Mitochondrial Dna-Associated Leigh Syndrome	Segmental peripheral demyelination/remyelination, Optic atrophy, Pigmentary retinopathy, Focal T2...	ORPHA:255210
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Microcephaly, Hydrocephalus, Frontal encephalocele, Elbow flexion cont...	OMIM:268300
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Microcephaly, Brushfield spots,...	OMIM:619539
Trichothiodystrophy 1, Photosensitive	Freckling, Microcephaly, Flexion contracture, Absence of subcutaneous fat, Microphthalmia	OMIM:601675
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Intrauterine growth retardation	ORPHA:436252
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn...	ORPHA:2044
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Coloboma, Inguinal hernia	OMIM:603457
Monosomy 22Q13.3	Umbilical hernia, Agenesis of corpus callosum	ORPHA:48652
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Intrauterine growth retardation	OMIM:616395
Werner Syndrome	Abnormality of retinal pigmentation, Lipodystrophy, Lipoatrophy, Premature graying of hair, White...	ORPHA:902
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Hydrocephalus, Cerebral cortical atrophy, Microcephaly	OMIM:277400
Autosomal Recessive Robinow Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Umbilical he...	ORPHA:1507
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Renal insufficiency, Glomerulopathy, Proteinuria, Cryptorchidism, Proximal rena...	ORPHA:534
Kearns-Sayre Syndrome	Pigmentary retinopathy, Basal ganglia calcification, Microcephaly	OMIM:530000
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Optic atrophy	OMIM:201180
Usher Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of retinal pigmentation, Abnormal dental enamel...	ORPHA:886
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Camptodactyly of finger, Iris coloboma, Microcephaly	ORPHA:1236
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Eye of the tiger anomaly of globus pallidus, Global brain ...	OMIM:234200
Oculodentodigital Dysplasia	Neurogenic bladder, Microcephaly, Basal ganglia calcification, Abnormal cerebral white matter mor...	OMIM:164200
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Hyperpigmente...	OMIM:601803
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callo...	OMIM:220111
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Orofaciodigital Syndrome Type 1	Agenesis of corpus callosum, Abnormal dental enamel morphology, Dandy-Walker malformation	ORPHA:2750
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Intrauterine growth retardation, Microcephaly	ORPHA:2728
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Anophthalmia, Hypoplasia of the olfactory bulb, Microphthalmia, Iris coloboma	ORPHA:2250
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, Cerebellar vermis...	ORPHA:2152
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Camptodactyly of 2nd-5th fingers	OMIM:206920
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Lipoatrophy, Hydrocephalus, Flexion contracture, Absence of ...	OMIM:264090
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor...	ORPHA:818
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Reduced circulating prolactin concentration, Pigmentary retinopathy, Anterior hypopituitarism, Ro...	ORPHA:2235
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Microphthalmia, Iris coloboma	ORPHA:861
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Stage 5 chronic kidney...	ORPHA:731
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of th...	OMIM:612289
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia, Frontal cutaneous lipoma, Iris coloboma	OMIM:229400
Hajdu-Cheney Syndrome	Hypospadias, Hydrocephalus, Syringomyelia, Multiple renal cysts, Umbilical hernia	ORPHA:955
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst...	ORPHA:892
Distal Deletion 12Q	Unilateral cryptorchidism, Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Mi...	ORPHA:96149
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Ventriculomegaly, Dandy-Walker malformation	OMIM:302960
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Cryptorchidism, Hydrocephalus, Abnormal spin...	ORPHA:3310
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Ohdo Syndrome, X-Linked	Microphthalmia, Inguinal hernia, Cafe-au-lait spot, Hiatus hernia	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Hypermyelinated retinal nerve fibers, Microphthalmia, Keloids, Joint contracture, Fl...	OMIM:601812
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Fanconi Anemia, Complementation Group C	Microcephaly, Flexion contracture, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the sk...	OMIM:227645
3Q29 Microdeletion Syndrome	Abnormality of skin pigmentation, Microphthalmia, Microcephaly	ORPHA:65286
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Scarring alopecia of scalp, Flexion contracture	ORPHA:35173
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Frontotempora...	OMIM:619534
Robinow Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Umbilical hernia, Webbed penis, Micropenis, Hydrone...	ORPHA:97360
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cryptorchidism, Hypospadias, Renal cyst	ORPHA:495875
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Multiple lipomas, Increased circulating prolactin concentration	OMIM:617675
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia	OMIM:309800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Corneal scarring, Coloboma, Secondary microcephaly, Keloid...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Corneal scarring, Coloboma, Secondary microcephaly, Keloid...	ORPHA:353277
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:263520
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerve conduction velocit...	ORPHA:167
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria	ORPHA:699
Simpson-Golabi-Behmel Syndrome, Type 1	Inguinal hernia, Cerebellar vermis hypoplasia, Diastasis recti, Congenital diaphragmatic hernia, ...	OMIM:312870
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Camptodactyly	OMIM:200110
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy, Decreased response to growth hormone stimulation...	OMIM:203800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Keloids, Coloboma, Retinopathy, Secondary microcephaly	ORPHA:353281
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Micro...	ORPHA:1596
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock	ORPHA:742
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Sensory axonal neuropathy	OMIM:607459
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Polycystic kidney dy...	OMIM:134780
Cranioectodermal Dysplasia 2	Renal insufficiency, Renal cyst	OMIM:613610
Fanconi Anemia, Complementation Group E	Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, Microcephaly	OMIM:600901
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele	ORPHA:3164
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of skin pigmentation, Microphthalmia	ORPHA:1806
Shprintzen Omphalocele Syndrome	Omphalocele	OMIM:182210
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma	OMIM:618183
Fanconi Anemia, Complementation Group A	Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot, Microcephaly	OMIM:227650
Genitopatellar Syndrome	Hip contracture, Microcephaly, Knee flexion contracture, Colpocephaly, Pachygyria, Agenesis of co...	OMIM:606170
Roberts Syndrome	Cryptorchidism, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Microphthalmia, Agenesis...	OMIM:164210
Ogden Syndrome	Global glomerulosclerosis, Cryptorchidism, Hydrocele testis, Polycystic kidney dysplasia, Umbilic...	OMIM:300855
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum	OMIM:618748
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Rodrigues Blindness	Microphthalmia	OMIM:268320
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Osteoporosis-Pseudoglioma Syndrome	Microcephaly, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Mi...	OMIM:259770
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Enamel hypoplasia, Pigmentary retinopathy, Vitiligo	OMIM:240300
Teebi-Shaltout Syndrome	Microphthalmia, Camptodactyly, Microcephaly	OMIM:272950
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Abnorm...	ORPHA:744
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Microcephaly	OMIM:278730
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Tetraamelia Syndrome 1	Microphthalmia, Hydrocephalus, Gastroschisis, Congenital diaphragmatic hernia	OMIM:273395
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly	OMIM:616734
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Intrauterine growth retardation	ORPHA:71212
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Knee flexion contracture, Microphthalmia, Inguinal hernia, Microcephaly	OMIM:609945
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Increased circulating gonadotropin level	OMIM:110100
Nijmegen Breakage Syndrome	Microcephaly, Retinal pigment epithelial mottling, Progressive vitiligo, Intrauterine growth reta...	OMIM:251260
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Hallermann-Streiff Syndrome	Microphthalmia, Cerebellar hypoplasia, Microcephaly	ORPHA:2108
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Periventricular cysts, Corneal scarring, Keloids, Microphthalmia, Enamel...	OMIM:309000
Abetalipoproteinemia	Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus	ORPHA:14
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cerebral white matter morphology	ORPHA:411629
Proximal Renal Tubular Acidosis	Coloboma, Enamel hypomineralization	ORPHA:47159
Myhre Syndrome	Microphthalmia, Intrauterine growth retardation, Camptodactyly, Microcephaly	OMIM:139210
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation, Cafe-au-lait spot, Microcephaly	OMIM:608670
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M...	ORPHA:1969
Lymphedema-Distichiasis Syndrome	Microphthalmia, Cellulitis	OMIM:153400
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Cerebral calcification, Retinal pigment e...	OMIM:219800
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Microphthalmia	OMIM:268400
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi...	ORPHA:199
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy...	OMIM:606721
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Microphthalmia	OMIM:617925
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the frontal lobes, Hypoplasia of the co...	OMIM:216340
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Lipoatrophy, Patchy hypo- and hyperpigmentation, Generalized...	ORPHA:79474
Hardikar Syndrome	Umbilical hernia, Bladder exstrophy, Pigmentary retinopathy	OMIM:301068
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Camptodactyly, Microcephaly	OMIM:612474
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Pmm2-Cdg	Proteinuria, Nephrotic syndrome, Multiple renal cysts, Decreased testicular size, Abnormal renal ...	ORPHA:79318
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Arhgap35

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Arhgap35.

No publications found that use IMPC mice or data for Arhgap35.

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MGI Allele	Allele Type	Produced
Arhgap35^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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