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Gene: Pnkp MGI:1891698

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

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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.

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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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
Cerebellar atrophy, Hypoplasia of the corpus callosum, Microcephaly, Progressive microcephaly, Si... OMIM:613402
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy OMIM:616267
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Cerebellar atrophy, Hypoplasia of the corpus callosum, Diffus... 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
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:278780
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Aniridia OMIM:206750
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
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
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Mosaic Variegated Aneuploidy Syndrome 4
Microcephaly, Abnormality of chromosome stability OMIM:620153
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Abnormally large globe OMIM:618504
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia OMIM:617661
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hypoplasia of the corpus callosum, Microcephaly, Progressive microcephaly, Si... OMIM:613402
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Gombo Syndrome
Microphthalmia OMIM:233270
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis OMIM:601076
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Microcephaly, Deficient excision of UV-i... OMIM:278760
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Microcephaly, Abnormality of chromosome stability OMIM:600546
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Microphthalmia, Renal hypoplasia/aplasia ORPHA:195
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia, Microphthalmia OMIM:618494
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia OMIM:618142
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia OMIM:608572
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ectopic kidney, Microphthalmia, Pelv... OMIM:610832
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections OMIM:613680
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Nanophthalmos
Microphthalmia ORPHA:35612
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Aniridia ORPHA:1064
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Microphthalmia OMIM:613730
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia OMIM:274270
Nanophthalmos 4
Microphthalmia OMIM:615972
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Houge-Janssens Syndrome 2
Unilateral renal agenesis OMIM:616362
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Microphthalmia, Hypoplasia of penis, Abnorma... ORPHA:2547
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Splenomegaly, Hepatomegaly OMIM:614576
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormality of chromosome stability OMIM:614082
Biemond Syndrome Type 2
Hypospadias, Microphthalmia ORPHA:141333
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormality of t... ORPHA:363444
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Vesicoureteral reflux OMIM:606408
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Renal hypoplasia, Ketonuria, Microphthalmia OMIM:619053
Emanuel Syndrome
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infections OMIM:609029
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
De Sanctis-Cacchione Syndrome
Global brain atrophy, Cerebral atrophy, Basal ganglia calcification, Olivopontocerebellar atrophy... OMIM:278800
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Microphtha... OMIM:617914
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Micropenis, Unilateral renal agenesis, Vesicoureteral reflux OMIM:619951
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-chain dicarboxylic acidu... OMIM:608836
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Emanuel Syndrome
Micropenis, Unilateral renal agenesis, Renal hypoplasia ORPHA:96170
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic... OMIM:617303
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Microphthalmia, Renal dysplas... ORPHA:85284
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:278700
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis OMIM:619227
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:616541
Mmep Syndrome
Microphthalmia ORPHA:3434
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Renal agenesis OMIM:608980
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis, Hepatomegaly OMIM:620454
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:278730
Schizophrenia 1
Partially duplicated kidney, Ectopic kidney, Renal agenesis OMIM:181510
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Matthew-Wood Syndrome
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Microphthalmia ORPHA:2470
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Fanconi Anemia, Complementation Group L
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Microphthalmia OMIM:614083
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias OMIM:616737
Meckel Syndrome, Type 5
Renal cyst, Microphthalmia OMIM:611561
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atre... OMIM:208540
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria ORPHA:79284
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney, Abnormality of the kidney ORPHA:3109
Fanconi Anemia, Complementation Group E
Microcephaly, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage ind... OMIM:600901
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria, Microphthalmia OMIM:301108
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney OMIM:618188
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage, Microcephaly OMIM:610965
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus... ORPHA:468631
Fanconi Anemia, Complementation Group A
Microcephaly, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage ind... OMIM:227650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Vesicoureteral reflux OMIM:620654
Pierpont Syndrome
Micropenis, Microphthalmia OMIM:602342
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena... OMIM:276700
Trichothiodystrophy
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Periventricular leukomalacia, Microcephaly... ORPHA:33364
Cofs Syndrome
Microphthalmia ORPHA:1466
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Optic nerve hypoplasia, Recurrent urinary tract infections ORPHA:221139
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Developmental And Epileptic Encephalopathy 1
Micropenis, Microphthalmia OMIM:308350
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney ORPHA:464329
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464311
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Microphthalmia ORPHA:858
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Microphthalmia OMIM:602501
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Fanconi Anemia, Complementation Group C
Microcephaly, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage ind... OMIM:227645
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Hypoplasia of the corpus callosum, Age... OMIM:227646
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Abnormal renal morphology, Microphthal... OMIM:609053
Joubert Syndrome 37
Hydronephrosis, Hepatomegaly, Micropenis, Microphthalmia OMIM:619185
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Hypoplasia of the iris OMIM:619194
H Syndrome
Micropenis, Hepatosplenomegaly, Enlarged kidney, Abnormality of the kidney ORPHA:168569
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464306
Ring Chromosome 10 Syndrome
Microphthalmia, Renal hypoplasia/aplasia ORPHA:1438
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Trisomy 13
Abnormality of the ureter, Anophthalmia, Aplasia/Hypoplasia of the iris, Displacement of the uret... ORPHA:3378
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav... ORPHA:505248
Pierpont Syndrome
Microphthalmia ORPHA:487825
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... OMIM:174000
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Lens coloboma, Microphthalmia OMIM:618914
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Splenomegaly, Proteinuria, Hepa... ORPHA:191
7Q11.23 Microduplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Enuresis, Hypospadias ORPHA:96121
Meckel Syndrome, Type 2
Renal cyst, Microphthalmia OMIM:603194
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Fanconi Anemia, Complementation Group R
Pelvic kidney, Microphthalmia OMIM:617244
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... OMIM:614105
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Proboscis Lateralis
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, Anophthalmia, Micropht... ORPHA:141099
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter... ORPHA:79328
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis OMIM:620024
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia... ORPHA:79259
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal agenesis, Ureter... OMIM:270400
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Abnormality of the urinary system, Dilatation of the renal pelvis, Ves... ORPHA:95699
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Microphthalmia OMIM:610756
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney OMIM:252500
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Optic nerve hypoplasia ORPHA:457284
Congenital Rubella Syndrome
Hepatomegaly, Aplasia/Hypoplasia of the iris, Splenomegaly, Microphthalmia ORPHA:290
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis OMIM:181270
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microphthalmia OMIM:618805
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... ORPHA:731
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis OMIM:213980
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias ORPHA:487796
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Microphthalmia, Syndromic 5
Micropenis, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Meckel Syndrome, Type 4
Renal cyst, Microphthalmia OMIM:611134
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Microphthalmia/Coloboma 12
Optic nerve aplasia, Vesicoureteral reflux, Microphthalmia OMIM:120200
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis OMIM:618419
Temtamy Syndrome
Microphthalmia ORPHA:1777
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Anophthalmia, Microphthalmia ORPHA:77298
Leopard Syndrome 1
Micropenis, Unilateral renal agenesis, Hypospadias OMIM:151100
Lissencephaly 8
Microphthalmia OMIM:617255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Bilateral renal hypoplasia, Bilateral microphthalmos, Vesicoureteral r... ORPHA:508488
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... ORPHA:116
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Dilatation of the renal pelvis, Recurrent urinary tract infections, Ch... ORPHA:268261
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Optic disc hypoplasia, Horseshoe kidney, Crossed fused renal ec... OMIM:607323
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:306955
Congenital Fibrinogen Deficiency
Micropenis, Left ventricular hypertrophy, Right ventricular hypertrophy, Microphthalmia ORPHA:335
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Hypospadias, Microphthalmia OMIM:248700
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Unilateral microphthalmos, Splenomegaly OMIM:615085
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Microphthalmia OMIM:618652
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Hypospadias, Microphthalmia ORPHA:494344
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Polyuria OMIM:617140
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Hypoplasia of the iris, Pelvic kidney, Microphthalmia OMIM:613001
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney OMIM:603467
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections OMIM:615873
Microphthalmia, Lenz Type
Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis, Microphthalmia, Hypospadias ORPHA:568
Leprechaunism
Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney ORPHA:508
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Ogden Syndrome
Cardiomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney OMIM:300855
Gracile Bone Dysplasia
Micropenis, Aniridia, Microphthalmia OMIM:602361
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
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia OMIM:601794
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Oligosacchariduria, Microphthalmia ORPHA:163649
Moebius Syndrome
Micropenis, Microphthalmia OMIM:157900
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis, Microphthalmia ORPHA:2510
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Baraitser-Winter Syndrome 1
Micropenis, Microphthalmia OMIM:243310
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Anop... ORPHA:2538
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Stevenson-Carey Syndrome
Microphthalmia, Recurrent urinary tract infections OMIM:611961
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula, Microphthalmia ORPHA:2728
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Pseudotrisomy 13 Syndrome
Micropenis, Renal hypoplasia, Renal agenesis, Microphthalmia OMIM:264480
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Microphthalmia ORPHA:3301
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Joubert Syndrome 14
Renal cyst, Microphthalmia OMIM:614424
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum ORPHA:90348
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Microphthalmia OMIM:115470
Pallister-Hall Syndrome
Unilateral renal agenesis, Bilateral renal agenesis, Ectopic kidney, Microphthalmia, Micropenis, ... ORPHA:672
Kapur-Toriello Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:2328
Stromme Syndrome
Hydronephrosis, Optic nerve hypoplasia, Bilateral renal hypoplasia, Microphthalmia OMIM:243605
Warburg Micro Syndrome 4
Micropenis, Microphthalmia OMIM:615663
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias, Microphthalmia OMIM:616449
Pierson Syndrome
Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, P... OMIM:609049
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral reflux, Rena... ORPHA:959
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, M... OMIM:617729
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Horseshoe kidney, Unilateral renal agenesis, Bilateral renal dysplasia, Optic nerve hypoplasia ORPHA:500150
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency, Microphthalmia OMIM:608091
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Microphthalmia, Syndromic 9
Renal hypoplasia, Bilateral microphthalmos, Horseshoe kidney, Anophthalmia, Hydronephrosis, Pelvi... OMIM:601186
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Microphthalmia, Hypoplasia of penis, Rena... ORPHA:99776
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Microphthalmia ORPHA:35173
Warburg Micro Syndrome 3
Micropenis, Microphthalmia OMIM:614222
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
3Q29 Microdeletion Syndrome
Horseshoe kidney, Hypospadias, Microphthalmia ORPHA:65286
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Hepatosplenomegaly, Micropenis, Pelvic kidney, Urinary urgency OMIM:619503
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Vacterl With Hydrocephalus
Microphthalmia, Renal agenesis, Anophthalmia, Renal hypoplasia/aplasia ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Cardiac-Urogenital Syndrome
Micropenis, Patent urachus, Penoscrotal hypospadias, Enlarged kidney OMIM:618280
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Microphthalmia ORPHA:899
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Renal dysplasia, Microphthalmia OMIM:618571
Temtamy Syndrome
Microphthalmia OMIM:218340
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Microphthalmia ORPHA:2505
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Hydronephrosis, Renal cyst, Microphth... OMIM:146510
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Renal cyst, Microphthalmia, Micropenis ORPHA:1692
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Microphthalmia, Hypospadias ORPHA:2059
Digeorge Syndrome
Unilateral renal agenesis, Renal insufficiency, Splenomegaly, Hydronephrosis, Renal dysplasia OMIM:188400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Microphthalmia OMIM:241410
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoplasia of the iris, Renal insufficiency, Proteinuria, Dif... OMIM:251300
Kapur-Toriello Syndrome
Micropenis, Abnormality of the urinary system, 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
Proteus Syndrome
Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Buphthalmos, Enlarged kidney ORPHA:744
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Right ventricular hypertrophy, Nephroblastoma, Splenomegaly, Hydrone... OMIM:312870
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hypoplasia of the iris, Horseshoe kidney, Renal hypoplasia/aplasia,... ORPHA:2092
Warburg Micro Syndrome 2
Micropenis, Microphthalmia OMIM:614225
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Rodrigues Blindness
Microphthalmia OMIM:268320
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Renal dyspl... OMIM:308205
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Microphthalmia OMIM:302960
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Anophthalmia, Microphthalmia OMIM:615877
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Left ventricular hypertrophy, Hypospadias, Microphthalmia OMIM:619148
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Meckel Syndrome 14
Polycystic kidney dysplasia, Microphthalmia OMIM:619879
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Holoprosencephaly-Postaxial Polydactyly Syndrome
Renal hypoplasia/aplasia, Microphthalmia, Abnormal localization of kidney, Hypospadias, Hypoplasi... ORPHA:2166
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Vesicoureteral reflux, Microphthalmia ORPHA:250989
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias, Male urethral meatus stenosis, Microphthalmia ORPHA:464738
Martsolf Syndrome 1
Micropenis, Microphthalmia OMIM:212720
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Microphthalmia OMIM:616300
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Microphthalmia, Pelvic kidney, O... ORPHA:508498
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Microphthalmia ORPHA:268249
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:284160
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Microphthalmia, Micropenis, Hypospadias, Optic nerve hypoplasia OMIM:206900
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Pelvis-Shoulder Dysplasia
Hydronephrosis, Bilateral microphthalmos ORPHA:2839
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Microphthalmia OMIM:614230
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Histiocytoid Cardiomyopathy
Microphthalmia, Cardiomegaly, Renal cyst, Congenital aphakia, Hepatomegaly ORPHA:137675
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Microphthalmia ORPHA:2250
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Cousin Syndrome
Hydronephrosis, Microphthalmia OMIM:260660
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Hypospadias OMIM:618874
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Meckel Syndrome
Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the iris, Urethral atresia, Mic... ORPHA:564
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract, Microphthalmia ORPHA:3380
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu... ORPHA:534
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Renal dysplasia, Microphthalmia OMIM:236670
Ohdo Syndrome, X-Linked
Micropenis, Microphthalmia OMIM:300895
Fryns Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Microphthalmia, Ureteral duplication, Hypospadias OMIM:229850
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Renal insuffi... ORPHA:84
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:3186
Steinfeld Syndrome
Unilateral renal dysplasia, Microphthalmia OMIM:184705
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, D-2-hydroxyglutaric aciduria ORPHA:99646
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Tetraamelia Syndrome 1
Urethral atresia, Renal agenesis, Microphthalmia OMIM:273395
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Microphthalmia ORPHA:1052
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Renal cyst, Vesicoureteral reflux, Hypospadias, Microphthalmia OMIM:616975
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia, Microphthalmia OMIM:620005
Linear Skin Defects With Multiple Congenital Anomalies 1
Micropenis, Chordee, Hypospadias, Microphthalmia OMIM:309801
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Cockayne Syndrome B
Hypoplasia of the iris, Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegaly, Microphthal... OMIM:133540
Jacobsen Syndrome
Macular hypoplasia, Hypospadias, Microphthalmia OMIM:147791
Holoprosencephaly
Abnormality of the urinary system, Anophthalmia, Proteinuria, Microphthalmia, Hypoplasia of penis ORPHA:2162
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Splenomegaly, Microphthalmi... OMIM:249000
Dubowitz Syndrome
Hypoplasia of the iris, Hypospadias, Microphthalmia OMIM:223370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Cohen Syndrome
Microphthalmia ORPHA:193
Monosomy 9Q22.3
Nephroblastoma, Microphthalmia ORPHA:77301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Frontorhiny
Microphthalmia ORPHA:391474
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
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Horseshoe kidney, Micropenis, Hypospadias, Microphthalmia OMIM:609945
Bartsocas-Papas Syndrome 1
Micropenis, Ectopic kidney, Microphthalmia OMIM:263650
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Roberts Syndrome
Long penis, Polycystic kidney dysplasia, Microphthalmia ORPHA:3103
Bosma Arhinia Microphthalmia Syndrome
Micropenis, Hypospadias, Microphthalmia OMIM:603457
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia OMIM:612109
Oculodentodigital Dysplasia
Neurogenic bladder, Microphthalmia OMIM:164200
22Q11.2 Deletion Syndrome
Renal hypoplasia, Vesicoureteral reflux, Splenomegaly, Multiple renal cysts, Microphthalmia, Poly... ORPHA:567
Renpenning Syndrome 1
Renal hypoplasia, Hypospadias, Phimosis, Microphthalmia OMIM:309500
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Monosomy 9P
Microphthalmia, Hypospadias, Ureteropelvic junction obstruction ORPHA:261112
Townes-Brocks Syndrome
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne... ORPHA:857
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Ureterocele, Microphthalmia OMIM:616734
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Microphthalmia OMIM:617925
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Traboulsi Syndrome
Homocystinuria, Microphthalmia OMIM:601552
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Microphthalmia With Linear Skin Defects Syndrome