Gene Summary

Name:
polynucleotide kinase 3'- phosphatase
Synonyms:
PNK,  1810009G08Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged kidney Pnkpem1(IMPC)Mbp HET Early adult 0.00
single kidney Pnkpem1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Pnkpem1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Pnkpem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pnkpem1(IMPC)Mbp HOM   Early adult 0.00
abnormal kidney morphology Pnkpem1(IMPC)Mbp HET Early adult 0.00
microphthalmia Pnkpem1(IMPC)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Pnkpem1(IMPC)Mbp HOM   E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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.

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

Disease Similarity of
phenotypes
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 Similarity of
phenotypes
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-K├╝ster-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