Gene: Pnkp MGI:1891698

Gene Summary

Name:

polynucleotide kinase 3'- phosphatase

Synonyms:

PNK, 1810009G08Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage
enlarged kidney	Pnkp^em1(IMPC)Mbp	HET	Early adult
single kidney	Pnkp^em1(IMPC)Mbp	HET	Early adult
abnormal skin morphology	Pnkp^em1(IMPC)Mbp	HET	Early adult
abnormal eye morphology	Pnkp^em1(IMPC)Mbp	HET	Early adult
preweaning lethality, complete penetrance	Pnkp^em1(IMPC)Mbp	HOM	Early adult
abnormal kidney morphology	Pnkp^em1(IMPC)Mbp	HET	Early adult
microphthalmia	Pnkp^em1(IMPC)Mbp	HET	Early adult
embryonic lethality prior to organogenesis	Pnkp^em1(IMPC)Mbp	HOM	E9.5

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pnkp 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 Pnkp (5 diseases)
Human diseases predicted to be associated with Pnkp (544 diseases)

The table below shows human diseases associated to Pnkp by orthology or direct annotation.

Disease	Matching phenotypes	Source
Microcephaly, Seizures, And Developmental Delay	Progressive microcephaly, Simplified gyral pattern, Microcephaly, Hypoplasia of the corpus callos...	OMIM:613402
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy	OMIM:616267
Early Infantile Epileptic Encephalopathy	Diffuse white matter abnormalities, Diffuse cerebral atrophy, Pachygyria, Microcephaly, Hypoplasi...	ORPHA:1934
Ataxia-Oculomotor Apraxia Type 4		ORPHA:459033
Charcot-Marie-Tooth Disease, Axonal, Type 2B2		OMIM:605589

The table below shows human diseases predicted to be associated to Pnkp by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Kidney Disease 5	Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,...	OMIM:617610
Congenital Anomalies Of Kidney And Urinary Tract 1	Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve...	OMIM:610805
Xeroderma Pigmentosum, Complementation Group G	Microcephaly, Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Congenital Megacalycosis	Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial...	ORPHA:93109
Immunodeficiency, Common Variable, 6	Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ...	OMIM:613496
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis, Aniridia	OMIM:206750
Renal Hypoplasia	Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic...	ORPHA:93101
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cryptorchidism, Unilateral Or Bilateral	Renal agenesis	OMIM:219050
Nephronophthisis 16	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Renal insufficiency...	OMIM:615382
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Microphthalmia, Hyperechogenic kidneys, Anophthalmia	OMIM:613885
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability, Microcephaly	OMIM:620153
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Hepatorenocardiac Degenerative Fibrosis	Hepatosplenomegaly, Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corti...	OMIM:619902
Renal Hypodysplasia/Aplasia 3	Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp...	OMIM:617805
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Micropenis, Abnormally large globe	OMIM:618504
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros...	OMIM:616002
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Enlarged kidney	OMIM:615285
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Radial-Renal Syndrome	Ectopic kidney, Unilateral renal agenesis	OMIM:179280
Renal Dysplasia	Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi...	ORPHA:93108
Nephronophthisis 2	Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar...	OMIM:602088
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly, Seizures, And Developmental Delay	Progressive microcephaly, Simplified gyral pattern, Microcephaly, Hypoplasia of the corpus callos...	OMIM:613402
Aa Amyloidosis	Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Enlarged kid...	ORPHA:85445
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis	OMIM:601355
Congenital Anomalies Of Kidney And Urinary Tract 3	Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl...	OMIM:618270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Renal agenesis	OMIM:601076
Xeroderma Pigmentosum, Complementation Group F	Aplasia/Hypoplasia involving the central nervous system, Deficient excision of UV-induced pyrimid...	OMIM:278760
Gombo Syndrome	Microphthalmia	OMIM:233270
Bladder Exstrophy And Epispadias Complex	Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy	OMIM:600057
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Oligomeganephronia	Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtrati...	ORPHA:2260
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability, Microcephaly	OMIM:600546
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia, Microphthalmia	ORPHA:195
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Unilateral renal agenesis, Microphthalmia, Renal hypoplasia	OMIM:618494
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microphthalmia	ORPHA:2432
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Renal Agenesis	Proteinuria, Renal insufficiency, Unilateral renal agenesis, Renal agenesis, Bilateral renal agen...	ORPHA:411709
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Micropenis	OMIM:244200
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Crossed fused renal ectopia, Micropenis	OMIM:618142
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia	OMIM:120433
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins...	OMIM:143400
Burn-Mckeown Syndrome	Unilateral renal agenesis, Renal hypoplasia	OMIM:608572
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki...	OMIM:263200
Fraser Syndrome 2	Unilateral renal agenesis, Microphthalmia, Bilateral renal agenesis, Ureteral agenesis, Renal age...	OMIM:617666
Mayer-Rokitansky-Küster-Hauser Syndrome	Horseshoe kidney, Unilateral renal agenesis, Abnormality of the kidney, Ectopic kidney	ORPHA:3109
Autosomal Dominant Polycystic Kidney Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor...	ORPHA:730
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Beaulieu-Boycott-Innes Syndrome	Horseshoe kidney, Recurrent urinary tract infections, Unilateral renal agenesis	OMIM:613680
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Tubulointerst...	OMIM:613092
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Aniridia	ORPHA:1064
Nanophthalmos	Microphthalmia	ORPHA:35612
Coach Syndrome 1	Stage 5 chronic kidney disease, Renal cyst, Unilateral renal agenesis, Hepatomegaly, Nephronophth...	OMIM:216360
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ectopic kidney, Cystic renal dysplasia, Hepatomegaly, Microphthalmia	OMIM:613730
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis	ORPHA:3306
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M...	OMIM:617641
Braddock Syndrome	Unilateral renal agenesis	ORPHA:52047
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Intellectual Developmental Disorder, Autosomal Dominant 36	Unilateral renal agenesis	OMIM:616362
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Hepatomegaly, Proximal tubulopathy, Hyperechogenic kidneys, Splenomegaly	OMIM:614576
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Microphthalmia, Abnormality of the bladder, Hypoplasia of penis, Abnormality of the ...	ORPHA:2547
Dihydropyrimidine Dehydrogenase Deficiency	Uraciluria, Microphthalmia	OMIM:274270
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Microcephaly	OMIM:614082
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Branchiootorenal Syndrome 1	Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Unilateral renal agenes...	OMIM:113650
Biemond Syndrome Type 2	Microphthalmia, Hypospadias	ORPHA:141333
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Micropenis	OMIM:308750
Joubert Syndrome 22	Microphthalmia, Renal hypoplasia	OMIM:615665
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Abnormality of the kidney, Micropenis, Horseshoe kidney, Unil...	ORPHA:363444
Renal Cysts And Diabetes Syndrome	Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Multiple glomerular cysts, Sta...	OMIM:137920
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Emanuel Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Micropenis, Renal hypoplasia	OMIM:609029
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Aplasia/Hypoplasia of t...	ORPHA:137902
Diamond-Blackfan Anemia 11	Unilateral renal agenesis	OMIM:614900
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Ketonuria, Hepatomegaly, Renal hypoplasia	OMIM:619053
De Sanctis-Cacchione Syndrome	Global brain atrophy, Cerebral atrophy, Basal ganglia calcification, Microcephaly, Olivopontocere...	OMIM:278800
Diaphanospondylodysostosis	Enlarged kidney, Horseshoe kidney, Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest	OMIM:608022
Seckel Syndrome 2	Ectopic kidney, Microphthalmia, Hypospadias	OMIM:606744
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Nephronophthisis 13	Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea...	OMIM:614377
Renal-Hepatic-Pancreatic Dysplasia 2	Cystic renal dysplasia, Hepatomegaly, Enlarged kidney	OMIM:615415
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Renal insufficiency, Hepatomegaly, ...	OMIM:608836
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Renal tubular atrophy, Enlarged kidney, Hepatomegaly, Nephrotic syndrome, Nephritis,...	OMIM:617303
Emanuel Syndrome	Unilateral renal agenesis, Micropenis, Renal hypoplasia	ORPHA:96170
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Vesicoureteral reflux, Unilateral renal agenesis, Micropenis	OMIM:619951
Bresek Syndrome	Hypoplasia of the bladder, Optic nerve hypoplasia, Microphthalmia, Renal dysplasia, Vesicouretera...	ORPHA:85284
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Optic nerve hypoplasia, Microphthalmia, Bilateral renal agenesis, Hyperechogen...	OMIM:617914
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Micropenis	OMIM:308700
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Renal agenesis	OMIM:619227
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Xeroderma Pigmentosum, Complementation Group A	Microcephaly, Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Shashi-Pena Syndrome	Unilateral renal agenesis	OMIM:617190
Oculogastrointestinal Neurodevelopmental Syndrome	Horseshoe kidney, Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Paternal Uniparental Disomy Of Chromosome 1	Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney	ORPHA:251004
Short Stature, Microcephaly, And Endocrine Dysfunction	Ectopic kidney, Unilateral renal agenesis, Micropenis, Renal hypoplasia	OMIM:616541
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Nager Syndrome	Unilateral renal agenesis	ORPHA:245
Crome Syndrome	Renal tubular epithelial necrosis, Microcephaly, Cerebellar dysplasia	OMIM:218900
Mmep Syndrome	Microphthalmia	ORPHA:3434
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Bifid Nose With Or Without Anorectal And Renal Anomalies	Unilateral renal agenesis, Renal agenesis	OMIM:608980
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Denys-Drash Syndrome	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro...	OMIM:194080
Xeroderma Pigmentosum, Complementation Group D	Microcephaly, Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia	ORPHA:1473
Glycogen Storage Disease Ia	Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Nephrolithiasis...	OMIM:232200
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
Schizophrenia 1	Ectopic kidney, Partially duplicated kidney, Renal agenesis	OMIM:181510
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Matthew-Wood Syndrome	Horseshoe kidney, Microphthalmia, Vesicoureteral reflux, Anophthalmia, Renal hypoplasia	ORPHA:2470
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Microphthalmia, Micropenis, Renal hypoplasia	OMIM:614083
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia	ORPHA:83461
Glycogen Storage Disease Ib	Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Nephrolithiasis...	OMIM:232220
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis, Rena...	ORPHA:2237
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Chromosome 17Q12 Deletion Syndrome	Recurrent urinary tract infections, Hydronephrosis, Stage 5 chronic kidney disease, Hypoplasia of...	OMIM:614527
Renal-Hepatic-Pancreatic Dysplasia 1	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Ureteral atresia, R...	OMIM:208540
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst	OMIM:611561
Takenouchi-Kosaki Syndrome	Hydronephrosis, Unilateral renal agenesis, Hypospadias	OMIM:616737
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Methylmalonic aciduria	ORPHA:79284
Papillorenal Syndrome	Absence of renal corticomedullary differentiation, Proteinuria, Stage 5 chronic kidney disease, C...	OMIM:120330
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney	OMIM:618188
Fanconi Anemia, Complementation Group E	Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ...	OMIM:600901
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Cockayne Syndrome Type 3	Hydronephrosis, Urinary retention, Neurogenic bladder, Hydroureter, Renal insufficiency, Unilater...	ORPHA:90324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal renal collecting system morphology, Bilateral microphthalmos, Microphallus, Unilateral r...	ORPHA:468631
Fanconi Anemia, Complementation Group A	Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ...	OMIM:227650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Xfe Progeroid Syndrome	Microcephaly, Defective DNA repair after ultraviolet radiation damage	OMIM:610965
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Pierpont Syndrome	Micropenis, Microphthalmia	OMIM:602342
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Unilateral renal agenesis, Optic nerve hypoplasia	ORPHA:221139
Tyrosinemia, Type I	Nephrocalcinosis, Enlarged kidney, Renal Fanconi syndrome, Renal insufficiency, Hepatomegaly, Ele...	OMIM:276700
Trichothiodystrophy	Diffuse cerebellar atrophy, Partial agenesis of the corpus callosum, Microcephaly, Cerebral dysmy...	ORPHA:33364
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Hepatomegaly, Enlarged kidney	OMIM:200995
Cofs Syndrome	Microphthalmia	ORPHA:1466
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney	OMIM:613091
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hydronephrosis, Micropenis, Renal cyst, Unilateral renal agenesis, Pelvic kidney, Hypospadias	ORPHA:464311
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Beckwith-Wiedemann Syndrome	Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Nephrolithiasis, Vesicoure...	OMIM:130650
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly, Microphthalmia	ORPHA:858
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Multiple renal cysts, Splenomegaly, Enlarged kidney	ORPHA:464329
Developmental And Epileptic Encephalopathy 1	Micropenis, Microphthalmia	OMIM:308350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Microphthalmia	OMIM:602501
Fanconi Anemia, Complementation Group C	Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ...	OMIM:227645
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Fanconi Anemia, Complementation Group D2	Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ...	OMIM:227646
Fanconi Anemia, Complementation Group I	Abnormal renal morphology, Horseshoe kidney, Optic nerve hypoplasia, Microphthalmia, Vesicoureter...	OMIM:609053
Joubert Syndrome 37	Hydronephrosis, Hepatomegaly, Micropenis, Microphthalmia	OMIM:619185
H Syndrome	Hepatosplenomegaly, Abnormality of the kidney, Micropenis, Enlarged kidney	ORPHA:168569
Dyrk1A-Related Intellectual Disability Syndrome	Hydronephrosis, Micropenis, Renal cyst, Unilateral renal agenesis, Pelvic kidney, Hypospadias	ORPHA:464306
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Bilateral renal agenesis, Hydroureter, Unilateral renal agenesis, Hypoplasia of the iris	OMIM:619194
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Microphallus, Enlarged kidney, Hypospadias	OMIM:612651
Microphthalmia, Isolated 8	True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia	OMIM:615113
Ring Chromosome 10 Syndrome	Renal hypoplasia/aplasia, Microphthalmia	ORPHA:1438
Trisomy 13	Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Microphthalmia, Aplasia/Hypoplas...	ORPHA:3378
7Q11.23 Microduplication Syndrome	Enuresis, Hydronephrosis, Unilateral renal agenesis, Hypospadias	ORPHA:96121
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis	OMIM:101800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Heparan sulfate excretion in urine, Hepatosplenomegaly, Proteinuria, Enlarged kidney, Heavy prote...	ORPHA:505248
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Igg4-Related Kidney Disease	Hydronephrosis, Proteinuria, Acute kidney injury, Urinary bladder inflammation, Enlarged kidney, ...	ORPHA:449395
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu...	OMIM:174000
Cockayne Syndrome	Proteinuria, Abnormal renal physiology, Neurogenic bladder, Urinary incontinence, Renal insuffici...	ORPHA:191
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst	OMIM:603194
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Microphthalmia, Renal hypoplasia	OMIM:618914
Proboscis Lateralis	Duplication of renal pelvis, Unilateral renal agenesis, Microphthalmia, Optic nerve hypoplasia, U...	ORPHA:141099
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis	ORPHA:2673
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Alg9-Cdg	Hydronephrosis, Enlarged kidney, Hypoplasia of the bladder, Abnormal renal artery morphology, Hep...	ORPHA:79328
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis	OMIM:620024
Fanconi Anemia, Complementation Group R	Pelvic kidney, Microphthalmia	OMIM:617244
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Smith-Lemli-Opitz Syndrome	Hydronephrosis, Penoscrotal hypospadias, Micropenis, Renal cyst, Ureteropelvic junction obstructi...	OMIM:270400
Ventriculomegaly With Defects Of The Radius And Kidney	Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney	OMIM:602200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Optic nerve hypoplasia	ORPHA:457284
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Stage 5 chronic kidney disease, Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Nep...	ORPHA:79259
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Dilatation of the renal pelvis, Micropenis, Unilateral renal agenesis, Vesicoureteral reflux, Enl...	ORPHA:95699
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Microphthalmia	OMIM:610756
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Hepatomegaly, Splenomegaly, Microphthalmia	ORPHA:290
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic aciduria, Microphthalmia, Elevated urinary 3-hydroxybutyric acid, Elevated urinary ...	OMIM:614105
Mucolipidosis Ii Alpha/Beta	Mucopolysacchariduria, Enlarged kidney, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:252500
Scleroderma, Familial Progressive	Abnormality of chromosome stability, Chromosome breakage	OMIM:181750
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Polycystic kidney dysplasia, Hepatosplenomegaly, Acute kidney...	ORPHA:731
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis	OMIM:213980
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microphthalmia	OMIM:618805
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis	OMIM:181270
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis	OMIM:618419
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hydronephrosis, Unilateral renal agenesis, Hypospadias	ORPHA:487796
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst	OMIM:611134
Coloboma, Ocular, Autosomal Dominant	Vesicoureteral reflux, Optic nerve aplasia, Microphthalmia	OMIM:120200
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Bifid ureter, Enlarged kidney, Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma	ORPHA:500095
Meacham Syndrome	Horseshoe kidney, Enlarged kidney	OMIM:608978
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypospadias, Anophthalmia, Microphthalmia, Hypoplasia of penis	ORPHA:77298
Beckwith-Wiedemann Syndrome	Enlarged kidney, Congenital megaureter, Multiple renal cysts, Nephropathy, Hepatomegaly, Hypercal...	ORPHA:116
Microphthalmia, Syndromic 5	Anophthalmia, Micropenis, Microphthalmia, Optic nerve hypoplasia	OMIM:610125
Leopard Syndrome 1	Unilateral renal agenesis, Micropenis, Hypospadias	OMIM:151100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Lissencephaly 8	Microphthalmia	OMIM:617255
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Left ventricular hypertrophy	OMIM:613153
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Dilatation of the renal pelvis, Micropenis, Unilateral renal ...	ORPHA:268261
Duane-Radial Ray Syndrome	Hydronephrosis, Optic disc hypoplasia, Horseshoe kidney, Microphthalmia, Renal malrotation, Vesic...	OMIM:607323
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Congenital Fibrinogen Deficiency	Right ventricular hypertrophy, Micropenis, Microphthalmia, Left ventricular hypertrophy	ORPHA:335
8Q24.3 Microdeletion Syndrome	Abnormality of the kidney, Bilateral microphthalmos, Pelvic kidney, Unilateral renal agenesis, Op...	ORPHA:508488
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Hepatomegaly, Splenomegaly	OMIM:615085
Marden-Walker Syndrome	Microphthalmia, Micropenis, Renal hypoplasia, Hypospadias	OMIM:248700
Anterior Segment Dysgenesis 5	Rieger anomaly, Hypoplasia of the fovea, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Zttk Syndrome	Horseshoe kidney, Polyuria, Unilateral renal agenesis	OMIM:617140
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Horseshoe kidney, Hepatomegaly, Cardiomegaly, Renal agenesis	OMIM:306955
Rere-Related Neurodevelopmental Syndrome	Vesicoureteral reflux, Microphthalmia, Hypospadias	ORPHA:494344
Leprechaunism	Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Enlarged ovaries, Hypercalciuria, Long penis	ORPHA:508
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hypoplasia of the iris, Microphthalmia, Hydronephrosis	OMIM:613001
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Fanconi Anemia, Complementation Group F	Vesicoureteral reflux, Microphallus, Microphthalmia, Pelvic kidney, Renal hypoplasia	OMIM:603467
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Microphthalmia	OMIM:618652
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Enuresis nocturna, Enlarged kidney	OMIM:615873
Ogden Syndrome	Global glomerulosclerosis, Polycystic kidney dysplasia, Cardiomegaly, Enlarged kidney	OMIM:300855
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Microphthalmia, Lenz Type	Hydronephrosis, Hydroureter, Renal hypoplasia/aplasia, Microphthalmia, Hypospadias	ORPHA:568
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis	ORPHA:261337
Acrofacial Dysostosis 1, Nager Type	Unilateral renal agenesis	OMIM:154400
Refsum Disease	Renal insufficiency, Splenomegaly, Microphthalmia	ORPHA:773
Gracile Bone Dysplasia	Aniridia, Micropenis, Microphthalmia	OMIM:602361
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Oligosacchariduria, Microphthalmia	ORPHA:163649
Micro Syndrome	Hydronephrosis, Abnormal localization of kidney, Microphthalmia, Hypoplasia of penis	ORPHA:2510
Moebius Syndrome	Micropenis, Microphthalmia	OMIM:157900
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Bladder diverticulum, Pyelonephritis	ORPHA:90348
Baraitser-Winter Syndrome 1	Micropenis, Microphthalmia	OMIM:243310
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Pseudotrisomy 13 Syndrome	Renal agenesis, Microphthalmia, Micropenis, Renal hypoplasia	OMIM:264480
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Aniridia, Macular hyp...	ORPHA:2334
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Microphthalmia, Multiple bladder diverticula	ORPHA:2728
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Joubert Syndrome 14	Microphthalmia, Renal cyst	OMIM:614424
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Microphthalmia	OMIM:611961
Pallister-Hall Syndrome	Micropenis, Ectopic kidney, Unilateral renal agenesis, Microphthalmia, Renal dysplasia, Bilateral...	ORPHA:672
Microgastria-Limb Reduction Defect Syndrome	Horseshoe kidney, Anophthalmia, Renal hypoplasia/aplasia, Hepatomegaly, Microphthalmia, Renal dys...	ORPHA:2538
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2328
Stromme Syndrome	Hydronephrosis, Microphthalmia, Optic nerve hypoplasia, Bilateral renal hypoplasia	OMIM:243605
Warburg Micro Syndrome 4	Micropenis, Microphthalmia	OMIM:615663
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Microphthalmia, Hypospadias	OMIM:616449
Cat Eye Syndrome	Hydronephrosis, Horseshoe kidney, Microphthalmia, Vesicoureteral reflux, Renal agenesis	OMIM:115470
Pierson Syndrome	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hypoplasia of the cilia...	OMIM:609049
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Bladder diverticulum, Micropht...	ORPHA:959
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Horseshoe kidney, Unilateral renal agenesis, Optic nerve hypoplasia, Bilateral renal dysplasia	ORPHA:500150
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Pallister-Hall Syndrome	Hydronephrosis, Micropenis, Renal cyst, Ectopic kidney, Hydroureter, Microphthalmia, Renal dyspla...	OMIM:146510
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Anterior Segment Dysgenesis 2	Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia	OMIM:610256
Galloway-Mowat Syndrome 3	Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Mic...	OMIM:617729
Microphthalmia, Syndromic 9	Hydronephrosis, Bilateral microphthalmos, Horseshoe kidney, Renal malrotation, Pelvic kidney, Ano...	OMIM:601186
Mosaic Trisomy 9	Hydronephrosis, Horseshoe kidney, Multiple renal cysts, Microphthalmia, Hypoplasia of penis, Rena...	ORPHA:99776
Joubert Syndrome 2	Renal insufficiency, Nephronophthisis, Microphthalmia, Renal cyst	OMIM:608091
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Warburg Micro Syndrome 3	Micropenis, Microphthalmia	OMIM:614222
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Anterior Segment Dysgenesis 7	Microphthalmia, Buphthalmos	OMIM:269400
Monosomy 18P	Microphthalmia	ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Microphthalmia	ORPHA:35173
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Buphthalmos	OMIM:212550
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Digeorge Syndrome	Hydronephrosis, Renal insufficiency, Unilateral renal agenesis, Renal dysplasia, Splenomegaly	OMIM:188400
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Hypospa...	OMIM:308205
Mosaic Trisomy 1	Renal cortical cysts, Micropenis, Renal cyst, Microphthalmia, Penile hypospadias	ORPHA:1692
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Renal dysplasia, Microphthalmia	OMIM:618571
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia, Hypoplasia of penis	ORPHA:899
3Q29 Microdeletion Syndrome	Horseshoe kidney, Microphthalmia, Hypospadias	ORPHA:65286
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias	ORPHA:2505
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatosplenomegaly, Micropenis, Unilateral renal agenesis, Urinary urgency, Pelvic kidney	OMIM:619503
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Temtamy Syndrome	Microphthalmia	OMIM:218340
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Fryns Syndrome	Hydronephrosis, Microphthalmia, Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias	ORPHA:2059
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micropenis, Microphthalmia	OMIM:241410
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Cardiac-Urogenital Syndrome	Patent urachus, Penoscrotal hypospadias, Micropenis, Enlarged kidney	OMIM:618280
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Vacterl With Hydrocephalus	Anophthalmia, Renal hypoplasia/aplasia, Renal agenesis, Microphthalmia	ORPHA:3412
Simpson-Golabi-Behmel Syndrome, Type 1	Hydronephrosis, Enlarged kidney, Renal cyst, Duplication of renal pelvis, Hepatomegaly, Right ven...	OMIM:312870
Galloway-Mowat Syndrome 1	Proteinuria, Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Microphthalmia...	OMIM:251300
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Kapur-Toriello Syndrome	Abnormality of the urinary system, Micropenis, Microphthalmia	OMIM:244300
Teebi-Shaltout Syndrome	Horseshoe kidney, Hydronephrosis, Ureteral stenosis, Microphthalmia	OMIM:272950
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Focal Dermal Hypoplasia	Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia, Microphthalmia, Hypoplasia of the iri...	ORPHA:2092
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Warburg Micro Syndrome 2	Micropenis, Microphthalmia	OMIM:614225
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Rodrigues Blindness	Microphthalmia	OMIM:268320
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Microphthalmia	OMIM:302960
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia, Hypospadias	OMIM:615877
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Left ventricular hypertrophy, Microphthalmia, Hypospadias	OMIM:619148
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Holoprosencephaly-Postaxial Polydactyly Syndrome	Renal hypoplasia/aplasia, Microphthalmia, Hypoplasia of penis, Abnormal localization of kidney, H...	ORPHA:2166
Meckel Syndrome 14	Polycystic kidney dysplasia, Microphthalmia	OMIM:619879
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal hypoplasia, Renal cyst	OMIM:616300
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Martsolf Syndrome 1	Micropenis, Microphthalmia	OMIM:212720
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
1Q21.1 Microdeletion Syndrome	Hydronephrosis, Vesicoureteral reflux, Microphthalmia	ORPHA:250989
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Male urethral meatus stenosis, Microphthalmia, Hypospadias	ORPHA:464738
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Horseshoe kidney, Optic nerve hypoplasia, Microphthalmia, Pelvic kidney, Renal agenesis, Renal hy...	ORPHA:508498
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Microphthalmia	ORPHA:268249
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:284160
Microphthalmia, Syndromic 3	Optic nerve aplasia, Micropenis, Microphthalmia, Optic nerve hypoplasia, Anophthalmia, Hypospadias	OMIM:206900
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Chromosome 8Q21.11 Deletion Syndrome	Micropenis, Microphthalmia	OMIM:614230
Pelvis-Shoulder Dysplasia	Hydronephrosis, Bilateral microphthalmos	ORPHA:2839
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Histiocytoid Cardiomyopathy	Congenital aphakia, Renal cyst, Hepatomegaly, Microphthalmia, Cardiomegaly	ORPHA:137675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Microphthalmia, Buphthalmos	OMIM:616538
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia, Hypoplasia of penis	ORPHA:2250
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias	OMIM:618874
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Cousin Syndrome	Hydronephrosis, Microphthalmia	OMIM:260660
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Meckel Syndrome	Urethral atresia, Microphthalmia, Ureteral duplication, Aplasia/Hypoplasia of the iris, Multicyst...	ORPHA:564
Trisomy 18	Hydronephrosis, Microphthalmia, Abnormality of the upper urinary tract	ORPHA:3380
Tetraamelia Syndrome 1	Renal agenesis, Urethral atresia, Microphthalmia	OMIM:273395
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Renal dysplasia, Microphthalmia, Optic nerve hypoplasia, Buphthalmos	OMIM:236670
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Steinfeld Syndrome	Unilateral renal dysplasia, Microphthalmia	OMIM:184705
Ohdo Syndrome, X-Linked	Micropenis, Microphthalmia	OMIM:300895
Oculocerebrorenal Syndrome Of Lowe	Proximal renal tubular acidosis, Proteinuria, Glomerulopathy, Nephrocalcinosis, Oligosacchariduri...	ORPHA:534
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Unilateral renal agenesis, D-2-hydroxyglutaric aciduria	ORPHA:99646
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Fanconi Anemia	Recurrent urinary tract infections, Abnormal renal morphology, Abnormal preputium morphology, Hyd...	ORPHA:84
Fryns Syndrome	Hydronephrosis, Renal cyst, Microphthalmia, Ureteral duplication, Renal agenesis, Hypospadias	OMIM:229850
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormal localization of kidney, Renal hypoplasia/aplasia, Microphthalmia	ORPHA:3186
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos	ORPHA:91495
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Microphthalmia, Renal cyst, Hypospadias	OMIM:616975
Meckel Syndrome, Type 1	Polycystic kidney dysplasia, Hypoplasia of the bladder, Abnormality of the ureter, Microphthalmia...	OMIM:249000
Mosaic Variegated Aneuploidy Syndrome	Nephroblastoma, Multicystic kidney dysplasia, Microphthalmia	ORPHA:1052
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Linear Skin Defects With Multiple Congenital Anomalies 1	Chordee, Micropenis, Microphthalmia, Hypospadias	OMIM:309801
Degcags Syndrome	Recurrent urinary tract infections, Hepatosplenomegaly, Chronic kidney disease, Bilateral renal d...	OMIM:619488
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia, Hypospadias	OMIM:147791
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Renal hypoplasia	OMIM:620005
Holoprosencephaly	Proteinuria, Microphthalmia, Hypoplasia of penis, Anophthalmia, Abnormality of the urinary system	ORPHA:2162
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Hypospadias	OMIM:223370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Buphthalmos	OMIM:613150
Cockayne Syndrome B	Proteinuria, Micropenis, Renal insufficiency, Hepatomegaly, Microphthalmia, Hypoplasia of the iri...	OMIM:133540
Cohen Syndrome	Microphthalmia	ORPHA:193
Frontorhiny	Microphthalmia	ORPHA:391474
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Bartsocas-Papas Syndrome 1	Ectopic kidney, Micropenis, Microphthalmia	OMIM:263650
Monosomy 9Q22.3	Nephroblastoma, Microphthalmia	ORPHA:77301
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Microphthalmia With Limb Anomalies	Horseshoe kidney, True anophthalmia, Microphthalmia	ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Roberts Syndrome	Long penis, Polycystic kidney dysplasia, Microphthalmia	ORPHA:3103
Fraser Syndrome	Urethral atresia, Microphthalmia, Hypoplasia of penis, Multicystic kidney dysplasia, Anophthalmia...	ORPHA:2052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Horseshoe kidney, Micropenis, Microphthalmia, Hypospadias	OMIM:609945
22Q11.2 Deletion Syndrome	Polycystic kidney dysplasia, Multiple renal cysts, Microphthalmia, Vesicoureteral reflux, Splenom...	ORPHA:567
Lowe Oculocerebrorenal Syndrome	Proximal renal tubular acidosis, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Renal in...	OMIM:309000
Bosma Arhinia Microphthalmia Syndrome	Micropenis, Microphthalmia, Hypospadias	OMIM:603457
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphthalmia, Microphakia	OMIM:612109
Townes-Brocks Syndrome	Abnormality of the kidney, Ectopic kidney, Renal insufficiency, Multiple renal cysts, Microphthal...	ORPHA:857
Oculodentodigital Dysplasia	Microphthalmia, Neurogenic bladder	OMIM:164200
Holoprosencephaly 9	Anophthalmia, Microphthalmia, Micropenis, Optic nerve hypoplasia	OMIM:610829
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Monosomy 9P	Ureteropelvic junction obstruction, Microphthalmia, Hypospadias	ORPHA:261112
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Renpenning Syndrome 1	Phimosis, Microphthalmia, Renal hypoplasia, Hypospadias	OMIM:309500
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micropenis, Microphthalmia	OMIM:617925
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Microphthalmia, Ureterocele	OMIM:616734
Hallermann-Streiff Syndrome	Microphthalmia	OMIM:234100
Charge Syndrome	Hydronephrosis, Micropenis, Horseshoe kidney, Microphthalmia, Vesicoureteral reflux, Anophthalmia	ORPHA:138
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:861
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Microphthalmia, Abnormal penis morphology, Anophthalmia, Hypospadias	ORPHA:2556
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Incontinentia Pigmenti

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