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Gene: Prdm4 MGI:1920093

Gene Summary

Name:

PR domain containing 4

Synonyms:

2810470D21Rik, SC1, SC-1, 1700031E19Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased cardiac muscle contractility	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.43×10^-10
microphthalmia	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal heart left ventricle morphology	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.92×10^-10
decreased total body fat amount	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.01×10^-06
abnormal iris morphology	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.76×10^-05
abnormal cornea morphology	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.22×10^-06
absent spleen	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
thick ventricular wall	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.49×10^-06
enlarged urinary bladder	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
impaired glucose tolerance	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.16×10^-06
increased circulating amylase level	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.72×10^-05
short tibia	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.66×10^-05
abnormal gait	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.08×10^-07
increased lean body mass	Prdm4^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.98×10^-07

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Gall bladder	Wholemount images	heterozygote	50% (1 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	50% (1 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

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

10 Images

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Echo

M-Mode Images

64 Images

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Adult LacZ

LacZ Images Wholemount

20 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

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Human diseases caused by Prdm4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Prdm4 (0 diseases)
Human diseases predicted to be associated with Prdm4 (587 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Prdm4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a...	ORPHA:93323
Gombo Syndrome	Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Micropenis, Slender long bone, Hypocalcemia, Aniridia, Microphthalmi...	OMIM:602361
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein c...	OMIM:614034
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Corneal opacity, Large for gestational age, Microcornea, Microphthalmia	ORPHA:2432
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest...	OMIM:615415
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle...	OMIM:615297
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Finger clinodactyly, Endocardial fibroel...	ORPHA:99776
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Cataract, Reduced systolic function, Failure to thrive in infancy...	OMIM:618805
Right Atrial Isomerism	Inguinal hernia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Situs...	OMIM:208530
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Dextrocardia, Situs inversus totalis	OMIM:618948
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
2Q24 Microdeletion Syndrome	Cataract, Toe syndactyly, Camptodactyly of finger, Small for gestational age, Long fingers, Bulle...	ORPHA:1617
Hypoglossia With Situs Inversus	Asplenia, Situs inversus totalis, Polysplenia, Micrognathia	OMIM:612776
Meckel Syndrome	Ureteral duplication, Anophthalmia, Sclerocornea, Micrognathia, Asplenia, Microcornea, Urethral a...	ORPHA:564
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microcoria, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Elevated circulating creatine kinase concentration, Inability to walk, Flexion contracture, Devel...	OMIM:613155
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Thrombocytopenia, Splenomegal...	ORPHA:290
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Xeroderma Pigmentosum, Complementation Group G	Cataract, Small for gestational age, Ataxia, Microphthalmia, Pes cavus	OMIM:278780
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g...	OMIM:306955
Laterality Defects, Autosomal Dominant	Asplenia, Situs inversus totalis	OMIM:601086
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iri...	OMIM:610023
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a...	ORPHA:210122
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Slc35A2-Cdg	Limb joint contracture, Camptodactyly of finger, Increased circulating thyroglobulin level, Coxa ...	ORPHA:356961
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Abdominal situs inversus, Pulmonic stenosis, C...	OMIM:619123
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid ...	OMIM:185070
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst	OMIM:620086
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Asplenia, Situs inversus totalis, Clubbing, ...	ORPHA:244
Congenital Varicella Syndrome	Atypical scarring of skin, Microphthalmia, Cataract, Micromelia	ORPHA:291
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis...	OMIM:269200
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferr...	OMIM:606069
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Cataract, Asplenia, Iridocyclitis, Keratoconjunctivitis, Nephrocalcinos...	OMIM:240300
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:120433
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Micrognathia, Biliary tract abnormality, Obesity, Membranous subvalvular aortic ...	ORPHA:3191
Ciliary Dyskinesia, Primary, 1	Absent frontal sinuses, Abnormal cornea morphology, Asplenia, Situs inversus totalis	OMIM:244400
Meckel Syndrome, Type 1	Micrognathia, Asplenia, Iris coloboma, Accessory spleen, Syndactyly, Malformation of the hepatic ...	OMIM:249000
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Asplenia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomer...	OMIM:605376
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Bowing of the long bones, Cataract, Rhizomelia, Ventricular septal defect, Proximal ...	ORPHA:93267
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Small for gestational age, Hypo...	OMIM:607143
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Hematuria, Chorioretinal coloboma, Microphthalmia, Posterior embryotox...	ORPHA:1473
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Hypoglycemia, Camptodactyly of finger, Ataxia, Micrognathia, Dysmetria, Microcornea, Mi...	ORPHA:48431
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Mmep Syndrome	Microphthalmia, Split foot, Ventricular septal defect, Triphalangeal thumb	ORPHA:3434
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Talipes equinovarus, Microphthalmia, Arthrogryposis multiplex c...	OMIM:616570
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Ventricular septal defect, Dextrocardia, Asplenia, Partial anomalous pulmonary ve...	OMIM:619657
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Temtamy Syndrome	Pes planus, Brachydactyly, Micrognathia, Short toe, Chorioretinal coloboma, Clinodactyly of the 5...	ORPHA:1777
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Asplenia, Long fingers, Bil...	OMIM:617746
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Pierpont Syndrome	Decreased body weight, Short toe, Micropenis, Microcornea, Deep plantar creases, Short foot, Broa...	OMIM:602342
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Pierpont Syndrome	Pes planus, Small for gestational age, Short toe, Abnormal subcutaneous fat tissue distribution, ...	ORPHA:487825
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Nanophthalmos	Microphthalmia, Abnormal choroid morphology	ORPHA:35612
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Absence of the sacrum, Right atrial isomerism, Ureteral duplication, ...	OMIM:270100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ...	ORPHA:1067
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Microphthalmia, Cystic renal d...	OMIM:613730
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Pes planus, Brachydactyly, Inguinal hernia, Overlapping toe,...	ORPHA:221120
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx...	OMIM:601559
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Micrognathia, Microcornea, Talipes equinovarus, Microphthalmia	OMIM:616171
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hypoplast...	OMIM:615524
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentrat...	OMIM:620306
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Micrognathia, Asplenia, Short th...	OMIM:164280
Refsum Disease	Short metacarpal, Cataract, Renal insufficiency, Ataxia, Heart block, Abnormal foot morphology, S...	ORPHA:773
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Cataract, Postaxial hand polydactyly, Hypoplastic ...	OMIM:136760
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Fem...	OMIM:620076
Osteoporosis-Pseudoglioma Syndrome	Waddling gait, Crumpled long bones, Corneal opacity, Metaphyseal widening, Abnormal femoral neck/...	ORPHA:2788
Cat-Eye Syndrome	Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hydronephrosis	ORPHA:195
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Cofs Syndrome	Cataract, Camptodactyly of finger, Talipes, Micrognathia, Microphthalmia, Arthrogryposis multiple...	ORPHA:1466
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri...	OMIM:265380
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Tetraamelia Syndrome 1	Cataract, Congenital diaphragmatic hernia, Micrognathia, Asplenia, Urethral atresia, Hypoplastic ...	OMIM:273395
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Miss...	OMIM:251230
Moebius Syndrome	Syndactyly, Pes planus, Brachydactyly, Micrognathia, Clinodactyly, Split hand, Micropenis, Abnorm...	OMIM:157900
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Patent foramen oval...	OMIM:609053
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Micr...	ORPHA:858
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Flexion contracture of the 4th toe, Ge...	ORPHA:2712
Short Syndrome	Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod...	ORPHA:3163
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Anophthalmia, Sclerocornea, Proximal placement of thumb, Microcornea...	ORPHA:139471
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Cataract, Small for gestational age, Rocker bottom foot, Micrognathia, Coxa va...	OMIM:214150
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral r...	ORPHA:959
Congenital Fibrinogen Deficiency	Tachycardia, Splenic rupture, Developmental cataract, Clubbing of fingers, Left ventricular hyper...	ORPHA:335
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Micrognathia, D...	OMIM:610756
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Temtamy Syndrome	Aortic regurgitation, Pes planus, Ectopia lentis, Lens luxation, Micrognathia, Hip dislocation, S...	OMIM:218340
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Obesity, Genu valgum, ...	ORPHA:65759
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Left ventricular h...	OMIM:613153
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Long penis, Coxa vara, Abnormal fi...	ORPHA:1988
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Abnormal morphology of the radius	ORPHA:3469
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Short tibia, Squared iliac bon...	OMIM:616300
Martsolf Syndrome 1	Micrognathia, Osteopathia striata, Finger joint hypermobility, Short palm, Micropenis, Short phal...	OMIM:212720
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Peters anomaly, Atrial septal d...	OMIM:618652
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Down-sloping shoulders, Micrognathia, Knee flexion contracture, Astigmatism, Camptodact...	OMIM:619694
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Small hand, Antecubital pterygium...	OMIM:619339
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morphology, Calcaneovalgus ...	ORPHA:261552
Warburg Micro Syndrome 1	Overlapping toe, Micrognathia, Developmental cataract, Microcornea, Microphthalmia, Failure to th...	OMIM:600118
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Pulmonary arterial hyperten...	OMIM:300887
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Polydactyly, Hernia, Microphthalmia, Leukemia	OMIM:602501
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Sclerocornea, Hypoplasia of the iris, Lipoma, Su...	OMIM:613001
Trisomy 13	Cataract, Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Postaxial...	ORPHA:3378
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Adams-Oliver Syndrome	Leukopenia, Finger syndactyly, Portal hypertension, Congenital hepatic fibrosis, Split hand, Abse...	ORPHA:974
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Renal hypoplasia, U...	OMIM:618914
Lissencephaly 8	Microphthalmia, Cataract, Talipes equinovarus, Elevated circulating creatine kinase concentration	OMIM:617255
Omodysplasia 1	Short humerus, Atrial septal defect, Rhizomelia, Increased fibular diameter, Ventricular septal d...	OMIM:258315
Microphthalmia With Limb Anomalies	Failure to thrive, Anophthalmia, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cuta...	OMIM:206920
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Abnormal pupil morphology, Flexion contractur...	OMIM:160565
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Flexion contract...	ORPHA:261537
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hypoplasia of the iris, Chorioretinal coloboma, Hernia, Iris col...	ORPHA:2092
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Thrombocytopenia, Neutropenia, Microphthalmia, Leukemia, Anemia	OMIM:614082
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Preaxial hand polydactyl...	OMIM:263520
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Ventricular septal defect, Camptodactyly of t...	ORPHA:251038
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Micrognathia, Complete atrioventricular canal defect, ...	OMIM:617925
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos...	OMIM:221900
Sandestig-Stefanova Syndrome	Small for gestational age, Rocker bottom foot, Muscular ventricular septal defect, Developmental ...	OMIM:618804
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Flexion contract...	ORPHA:2152
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Bilatera...	OMIM:610758
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Renal cyst, Finger clinodactyly, Micropenis, Absent distal inter...	ORPHA:1692
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Abnormal heart morphology, Hip dysplasia, A...	ORPHA:494344
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Fibular hypoplasia, Lateral humeral condyle aplasia, Opacification of ...	OMIM:164900
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Congenital Muscular Dystrophy With Cerebellar Involvement	Calf muscle pseudohypertrophy, Cataract, Optic nerve hypoplasia, Elevated circulating creatine ki...	ORPHA:370959
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Scle...	ORPHA:77298
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac wi...	ORPHA:96334
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Failure to thrive	OMIM:274270
Linear Verrucous Nevus Syndrome	Short metacarpal, Cataract, Genu recurvatum, Toe syndactyly, Talipes, Abnormal cornea morphology,...	ORPHA:2611
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly, Obesity, Hypospadias	ORPHA:141333
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:231736
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cataract, Overlapping toe, Inability to walk, Abnormal heart morphology, Astig...	OMIM:618571
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia...	OMIM:613885
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia, Split foot	OMIM:601349
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Male urethral meatus stenosis, Atrial septal defect, Finger syndactyly, Hypospadias,...	ORPHA:464738
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin...	OMIM:619135
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration	OMIM:615181
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Duplication of phalanx of hallux, Micropenis, Chorioretinal coloboma, Micr...	OMIM:243310
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Atrial septal defect, Overlapping fingers, Overlapping toe, Ventricular septal defect, Unilateral...	OMIM:618494
Spondylo-Ocular Syndrome	Pes planus, Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Microphthalmia, ...	ORPHA:85194
Cat Eye Syndrome	Ventricular septal defect, Micrognathia, Absent radius, Biliary atresia, Vesicoureteral reflux, H...	OMIM:115470
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Microphthalmia, Syndromic 9	Inguinal hernia, Anophthalmia, Truncus arteriosus, Ventricular septal defect, Congenital diaphrag...	OMIM:601186
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Micrognathia, Congeni...	ORPHA:435638
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Micrognathia, Coxa valga, Flat acetabular roof, Flattened epiphysis, Hemiatrophy of upp...	ORPHA:163649
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Mi...	OMIM:152950
Congenital Primary Aphakia	Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,...	ORPHA:83461
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:212550
Kapur-Toriello Syndrome	Cataract, Overlapping fingers, Camptodactyly of finger, Ventricular septal defect, Short thumb, A...	OMIM:244300
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Ocular albi...	ORPHA:1352
Warburg Micro Syndrome 3	Cataract, Micrognathia, Inability to walk, Flexion contracture, Developmental cataract, Microcorn...	OMIM:614222
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Inguinal hernia, Cataract, Toe syndactyly, Vesicoureteral reflux, Short foo...	ORPHA:250989
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Rocker bottom foot, Atrial septal defect, Hypoplastic spleen, Patent foramen o...	ORPHA:89844
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract, Chorioretinal dysplasia	OMIM:251270
Seckel Syndrome 2	Small for gestational age, Hypospadias, Micrognathia, Ectopic kidney, Heart murmur, Clinodactyly ...	OMIM:606744
Nance-Horan Syndrome	Microcornea, Microphthalmia, Short metacarpal, Cataract	ORPHA:627
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Cataract, Anophthalmia, Rhizomelia, Sclerocornea, Hypospadias, 2-3 toe syndactyly, Mi...	OMIM:615877
Alagille Syndrome	Keratoconus, Hypoplasia of the ulna, Hepatomegaly, Atrial septal defect, Ventricular septal defec...	ORPHA:52
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Peters anomaly, Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Prea...	OMIM:603671
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Broad...	ORPHA:1553
Oculoauricular Syndrome	Cataract, Short mandibular rami, Sclerocornea, Phthisis bulbi, Chorioretinal atrophy, Development...	OMIM:612109
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Nanophthalmos 4	Microphthalmia	OMIM:615972
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Short palm, Atrial septal defect, Clinodactyly of the 5t...	ORPHA:251014
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Micrognathia, Microcornea, Iris transillumination defect, Decreased body weight, Clinod...	OMIM:617306
Oculodentodigital Dysplasia	Micrognathia, Clinodactyly, Microcornea, Clinodactyly of the 5th finger, Finger syndactyly, Ataxi...	ORPHA:2710
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Re...	ORPHA:137675
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Tapered finger, Horseshoe kidney, Pulmonary arterial hypertension, Gait di...	ORPHA:65286
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Mirage Syndrome	Hyponatremia, Hypoglycemia, Rocker bottom foot, Hypospadias, Radial club hand, Thrombocytopenia, ...	OMIM:617053
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Charcot-Marie-Tooth Disease Type 1E	Hyporeflexia of lower limbs, Peroneal muscle weakness, Equinovarus deformity, Peroneal muscle atr...	ORPHA:90658
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of t...	OMIM:260660
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Ataxia	OMIM:615771
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, Corneal opacity, Chorioretinal dysplasia, Microcorne...	ORPHA:899
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	ORPHA:101082
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Lower limb asymmetry, Scarring alopecia of scalp, Neonatal epiphyseal stippling, Hip di...	ORPHA:35173
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde...	OMIM:274000
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Ataxia, Micrognathia, Tapered finger, Hypoplasia of the iris, Astigmatism, Metatars...	ORPHA:2479
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Tetralogy of Fallot, Microphthalmia, Failure to t...	ORPHA:2328
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Ventricular septal defect, Ataxia, Abnormal foot morphology, Bilateral microphthalmos...	ORPHA:369891
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Bilateral renal h...	OMIM:243605
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Micrognathia, Symphalangism affecting ...	ORPHA:2547
Weill-Marchesani Syndrome 2	Short metatarsal, Broad metacarpals, Short metacarpal, Shallow anterior chamber, Astigmatism, Pul...	OMIM:608328
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Bone marrow hypocellularity	OMIM:609054
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Broad hallux, Sandal gap, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Mi...	OMIM:618727
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Ventricular septal defect, Hypospadias, Micrognathia, Preaxial han...	OMIM:236680
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Mic...	OMIM:615665
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Microcornea, Bupht...	ORPHA:91495
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Obesity	OMIM:601794
Vitreoretinochoroidopathy	Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhage, Retinal neovascul...	OMIM:193220
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Obesity	ORPHA:363741
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognathia, 4-5 finger sy...	OMIM:257850
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Cataract, Broad hallux, Methylmal...	OMIM:614105
Brittle Cornea Syndrome 1	Keratoconus, Congenital hip dislocation, Mitral valve prolapse, Atypical scarring of skin, Kerato...	OMIM:229200
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Cataract, Ventricular septal defect, Hypospadias, 2-3 toe syndactyly, Microcorne...	OMIM:616449
Facial Clefting, Oblique, 1	Microphthalmia, Talipes calcaneovalgus	OMIM:600251
Steinfeld Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Missing ribs, Hypopl...	OMIM:184705
Cohen Syndrome	Finger syndactyly, Chorioretinal dystrophy, Arachnodactyly, Sandal gap, Ventricular septal defect...	ORPHA:193
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Meckel Syndrome, Type 4	Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Renal cyst, Bile...	OMIM:611134
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Congenital diaphragmatic her...	OMIM:309801
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi...	OMIM:602111
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Small for gestational age, Proteinuri...	OMIM:251300
Bresek Syndrome	Optic nerve hypoplasia, Postaxial hand polydactyly, Renal hypoplasia, Vesicoureteral reflux, Micr...	ORPHA:85284
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, Aplasia/Hypoplasia of th...	ORPHA:3472
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Cataract, Corneal opacity, Bilateral microphthalmos, Multiple lipomas, Clinod...	ORPHA:2399
Microphthalmia, Lenz Type	Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Hydroureter, Microcornea, Abno...	ORPHA:568
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Warburg Micro Syndrome 4	Inability to walk, Flexion contracture, Developmental cataract, Microcornea, Microphthalmia, Micr...	OMIM:615663
Neuhauser Syndrome	Iridodonesis, Pes planus, Genu recurvatum, Arachnodactyly, Ataxia, Micrognathia, Genu valgum, Hyp...	OMIM:249310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe, Flexion con...	OMIM:615249
Seckel Syndrome 10	Microretrognathia, Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes me...	OMIM:617253
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Renal hypoplasia, Aplasia/Hypoplasia of the pancre...	ORPHA:2470
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Flexion contracture, Developmental cataract, Microcornea, Microphthalm...	OMIM:614225
Hec Syndrome	Abnormal pupil morphology, Developmental cataract, Cardiomyopathy, Endocardial fibroelastosis, Ar...	ORPHA:2119
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Atrial septal defect, Phocom...	ORPHA:2538
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc...	OMIM:278730
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Micrognathia, Missing ribs, Microc...	ORPHA:3301
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th finger, Atrioventricular...	ORPHA:508498
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Failure to thrive, Corneal opacity, Lipoatrophy, Hyperextensibility of the knee, M...	OMIM:601812
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia, Toe syndactyly, Finger syndactyly	ORPHA:261272
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Pes planus, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, A...	OMIM:601552
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Multiple Benign Circumferential Skin Creases On Limbs	Inguinal hernia, Hypospadias, Lower limb asymmetry, Micrognathia, Congestive heart failure, Micro...	ORPHA:2505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Elevated circulating creatine kinase concentration, Flexion contracture, Dilated cardio...	OMIM:253800
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Tapered finger, Micrognathia, Hypocalcemia, Microphthalmia	ORPHA:1438
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Postaxial polydactyly, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholest...	OMIM:302960
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Nance-Horan Syndrome	Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Microphthalmia, ...	OMIM:302350
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler...	ORPHA:284160
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Thrombocytopen...	OMIM:600901
Fibrochondrogenesis 1	Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop...	OMIM:228520
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Thrombocytopenia, Hypoplasia of the radius, 2-3 finger syndactyly, Ves...	OMIM:603467
Jacobsen Syndrome	Atrial septal defect, Ventricular septal defect, Hypospadias, Micrognathia, Missing ribs, Flexion...	OMIM:147791
Atelis Syndrome 2	Pes planus, Micrognathia, Thrombocytopenia, Hyperinsulinemia, Dysmetria, Developmental cataract, ...	OMIM:620185
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Proteinuri...	OMIM:609049
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Micrognathia, Tetralogy of Fallot, Conjunctivitis, Recurrent corneal e...	OMIM:153400
Adams-Oliver Syndrome 2	Micrognathia, Developmental cataract, Absent distal phalanges, Short middle phalanx of finger, Mi...	OMIM:614219
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Occipital Horn Syndrome	Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Scarring, Aplastic clavic...	ORPHA:198
Developmental And Epileptic Encephalopathy 1	Choreoathetosis, Microphthalmia, Micropenis	OMIM:308350
Otodental Syndrome	Cataract, Abnormal dental enamel morphology, Lens coloboma, Microcornea, Microphthalmia, Iris col...	ORPHA:2791
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi...	OMIM:300952
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrhosis, Hepatitis, Thym...	ORPHA:227990
Meckel Syndrome, Type 5	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Bil...	OMIM:611561
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Talipes, Postax...	OMIM:619879
Incontinentia Pigmenti	Finger syndactyly, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Camptodactyly of...	ORPHA:464
Distal Deletion 6P	Atrial septal defect, Posterior embryotoxon, Corneal opacity, Micrognathia, Hypoplasia of the iri...	ORPHA:96125
Marden-Walker Syndrome	Inguinal hernia, Arachnodactyly, Dextrocardia, Hypospadias, Micrognathia, Renal hypoplasia, Radio...	OMIM:248700
Familial Dysautonomia	Abnormal peritoneum morphology, Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opaci...	ORPHA:1764
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Small for gestational age, Absent thumb, Absent radius, ...	OMIM:227645
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Atrial septal defect, Patent foramen ov...	OMIM:620005
Meckel Syndrome, Type 2	Omphalocele, Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Bile duct prolifer...	OMIM:603194
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Overrid...	ORPHA:3186
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Foot po...	ORPHA:268249
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Thrombocytopen...	OMIM:227650
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Papillorenal Syndrome	Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of renal corticomedul...	OMIM:120330
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrhosis, Hepatitis, Thym...	ORPHA:227982
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Chorioretinal coloboma, Peters anomaly, Vesicoureteral refl...	OMIM:120200
Trisomy 18	Microretrognathia, Omphalocele, Cataract, Ventricular septal defect, Camptodactyly of finger, Con...	ORPHA:3380
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Genu recurvatum, Lower limb asymmetry, Splenomegaly, Abnormal pupil...	ORPHA:2969
Vernal Keratoconjunctivitis	Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea...	ORPHA:70476
Fanconi Anemia, Complementation Group S	Ataxia, Proximal placement of thumb, Microphthalmia, Clinodactyly, Failure to thrive, Anemia	OMIM:617883
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hepat...	OMIM:208500
Neonatal Marfan Syndrome	Long toe, Iridodonesis, Tricuspid regurgitation, Arachnodactyly, Lipoatrophy, Small for gestation...	ORPHA:284979
Oculodentodigital Dysplasia	Atrial septal defect, Neurogenic bladder, Cataract, Ataxia, 4-5 finger syndactyly, Hip dislocatio...	OMIM:164200
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Postaxial polydactyly, Lower limb asymmetry, Micrognathia, 2-3 toe syn...	ORPHA:404440
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Failure to thrive, Cataract, Microcytic anemia	OMIM:612379
Frontometaphyseal Dysplasia	Micrognathia, Metaphyseal widening, Short metatarsal, Short phalanx of finger, Wrist flexion cont...	ORPHA:1826
Hartsfield Syndrome	Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand	ORPHA:2117
Charge Syndrome	Anophthalmia, Micrognathia, Secundum atrial septal defect, Hand monodactyly, Hypocalcemia, Atrial...	OMIM:214800
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Leukopenia, Abnormality of the liver, Triphalangeal thum...	ORPHA:84
Joubert Syndrome 37	Hepatomegaly, Postaxial polydactyly, Obesity, Microphthalmia, Micropenis, Hydronephrosis	OMIM:619185
Fryns Syndrome	Omphalocele, Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Congenital diaphragmatic...	ORPHA:2059
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular...	OMIM:264480
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Synostosis of carpal bones, Hypospadias, Short ha...	ORPHA:90652
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Microphthalmia, Anophthalmia	OMIM:164180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Joubert Syndrome 14	Ventricular septal defect, Ataxia, Postaxial polydactyly, Renal cyst, Intracranial hemorrhage, Hy...	OMIM:614424
Microphthalmia, Syndromic 5	Cataract, Anophthalmia, Optic nerve hypoplasia, Microcornea, Microphthalmia, Micropenis	OMIM:610125
Cockayne Syndrome Type 3	Flexion contracture, Microcornea, Lentiglobus, Hepatomegaly, Renal hypoplasia, Cardiomyopathy, Ur...	ORPHA:90324
Bartsocas-Papas Syndrome 1	Micrognathia, Ectopic kidney, Flexion contracture, Hypoplastic iliac wing, Pterygium, Micropenis,...	OMIM:263650
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Iris hypopigmen...	ORPHA:54
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Mend Syndrome	Cataract, Broad hallux, Overlapping fingers, Overlapping toe, Micrognathia, Long fingers, Elevate...	ORPHA:401973
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Unilateral microphthalmos, Mitral valve prolapse, Enamel hypoplasia, Failure to thri...	OMIM:618874
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Lentiglobus, Progressive gait ataxia, Hepatomegaly,...	ORPHA:191
Collagenoma, Familial Cutaneous	Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con...	OMIM:115250
Cockayne Syndrome B	Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of the iris, Square pelvis ...	OMIM:133540
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,...	OMIM:618150
Holoprosencephaly	Omphalocele, Hyponatremia, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Talipes,...	ORPHA:2162
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Conjunctival hyperemia, Lipomas of eyelids	OMIM:167730
Frontorhiny	Pericallosal lipoma, Cataract, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clino...	ORPHA:391474
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Micrognathia, Abse...	ORPHA:233
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Atrial septal defec...	OMIM:300166
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Microphthalmia...	OMIM:241410
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Small for gestational age, Hypospadias, Tapered finger, Micrognathia, Short thum...	OMIM:619148
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Cataract, Developmental cataract, Neutropenia, Microphthalmia, Lymphopenia	OMIM:616395
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic...	OMIM:227646
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Ureteral ...	OMIM:272950
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly, Thrombocytopenia	OMIM:619981
Myhre Syndrome	Hypoplastic iliac wing, Atrial septal defect, Ataxia, Pericardial effusion, Short toe, 2-3 toe sy...	OMIM:139210
Stevenson-Carey Syndrome	Hip dysplasia, Camptodactyly, Atrial septal defect, Microphthalmia, Joint contracture of the hand	OMIM:611961
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ...	OMIM:210600
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Pes planus, Inguinal hernia, Arachnodactyly, Bicuspid aortic valve, Transie...	ORPHA:91387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Congenital contracture...	OMIM:613150
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Large for gestation...	OMIM:229850
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Ventricular septal defect	OMIM:234050
Myoclonic-Astatic Epilepsy	Microphthalmia, Unsteady gait, Ataxia, Syndactyly	ORPHA:1942
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Cataract, Chorioretinal atrophy, Vitreous hemorrhage, Retinal neovascular...	ORPHA:891
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Small for gestational age, Developmental cataract, Hyperphosphatemia,...	OMIM:127000
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Sclerocornea, Micrognathia, Camptodactyly, Microphthalmia...	OMIM:614230
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Chorioretinal coloboma, Triphalangeal thumb, Atrial septal d...	ORPHA:857
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia	OMIM:617244
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Micrognathia, Hiatus hernia, Hip disloc...	OMIM:617729
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Congenital hip dislocation, Congenital diaphragmatic hernia, ...	OMIM:305600
Trichothiodystrophy 1, Photosensitive	Cataract, Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Telangiect...	OMIM:601675
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Mesoaxial foot po...	OMIM:146510
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Inguinal hernia	ORPHA:1135
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Rothmund-Thomson Syndrome, Type 2	Cataract, Congenital hip dislocation, Small for gestational age, Micrognathia, Short thumb, Small...	OMIM:268400
Chromosome 13Q14 Deletion Syndrome	Inguinal hernia, Overlapping toe, Ventricular septal defect, Micrognathia, Hip dislocation, Umbil...	OMIM:613884
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Missing ribs, ...	OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract, Elevated circulating creatine kinase concentration	OMIM:616538
22Q11.2 Deletion Syndrome	Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Vesicoureteral reflux...	ORPHA:567
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Hyposegmentation of neutrophil nuclei, Abnormality iris morphology, Congenit...	ORPHA:250999
Basal Cell Nevus Syndrome 1	Cataract, Down-sloping shoulders, Plantar pits, Irregular ossification of hand bones, Cardiac fib...	OMIM:109400
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Congenital diaphragmatic herni...	ORPHA:2556
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Large for gestational age, Tibial bowing, Long hallux, Multicystic kidney ...	ORPHA:500095
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Flexion contracture, Optic nerve hypoplasia, Decreased body weight	OMIM:614833
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Heart murmur, Multiple bladder diverticula, Atrial septal defect, Microphthalmia	ORPHA:2728
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Atrial sep...	OMIM:602482
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber, Retinal neovascularization	OMIM:305390
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Micro Syndrome	Hypoplasia of penis, Cataract, Micrognathia, Microcornea, Microphthalmia, Hydronephrosis	ORPHA:2510
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma...	ORPHA:42775
Monosomy 18P	Microphthalmia, Brachydactyly, Hypertension, Micrognathia	ORPHA:1598
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot pol...	OMIM:601707
Oculo-Palato-Cerebral Syndrome	Cataract, Small hand, Leukocoria, Short foot, Microphthalmia	ORPHA:2714
Joubert Syndrome 2	Renal insufficiency, Ataxia, Abnormal foot morphology, Postaxial hand polydactyly, Renal cyst, Po...	OMIM:608091
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular...	ORPHA:411634
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Ventricular septal defect, Congenital diaphragmatic hernia, 3-4 finger cutaneous synd...	OMIM:612530
Cutis Marmorata Telangiectatica Congenita	Bowing of the legs, Leukocoria, Telangiectasia, Hypertension, Short lower limbs	OMIM:219250
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Elevated circulating creatine kinase concentra...	OMIM:236670
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial b...	OMIM:259770
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Hypoammonemia, Micrognathia, Abnormal pupil morphology, Oligosaccharidur...	ORPHA:534
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Ventricular septal defect, Camptodactyly of finger	OMIM:616920
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Overlapping toe, Tapered finger, 2-3 toe syndactyly, Heart murmur, Obesity, Anis...	OMIM:618653
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Hypoplasia of mandible relative to maxill...	ORPHA:33364
Vacterl With Hydrocephalus	Absence of the sacrum, Inguinal hernia, Anophthalmia, Femoral hernia, Micrognathia, Hypoplasia of...	ORPHA:3412
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia, Congenital diaphragmatic hernia, Micrognathia	ORPHA:1915
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Atrial septal defect, Wrist ...	OMIM:268300
Hallermann-Streiff Syndrome	Cataract, Small for gestational age, Micrognathia, Metaphyseal widening, Telangiectasia, Choreoat...	OMIM:234100
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Pes planus, 2-3 toe syndactyly, Gait disturbance, Joint contracture of the 5th finger, Prominent ...	OMIM:620098
Dubowitz Syndrome	Syndactyly, Pes planus, Inguinal hernia, Aplastic anemia, Hypospadias, Micrognathia, Hypoplasia o...	OMIM:223370
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Omodysplasia 2	Short humerus, Hypospadias, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomel...	OMIM:164745
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi...	OMIM:200980
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Peters anom...	OMIM:614643
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Atrial septal defect, Multicystic kidney dysplasia, Cataract, Corneal opaci...	ORPHA:1052
Hydrolethalus	Anophthalmia, Micromelia, Micrognathia, Postaxial hand polydactyly, Microphthalmia	ORPHA:2189
Degcags Syndrome	Micrognathia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defec...	OMIM:619488
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal p...	OMIM:201180
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity, Ventricular septal defect, Micrognathia, Aplasia of the distal phalanx of the 5t...	OMIM:608670
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Pes planus, Cataract, Genu recu...	OMIM:619539
Ohdo Syndrome, X-Linked	Inguinal hernia, Ulnar deviation of the hand, Overlapping toe, Micrognathia, Hiatus hernia, Short...	OMIM:300895
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral h...	OMIM:175780
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Arrhythmia	ORPHA:2151
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Micrognathia, Clinodactyly of the 5th finger, Prominent fingertip pads, At...	OMIM:612474
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Short foot, Broad proximal phalanges of the hand, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Hepatomegaly...	OMIM:218330
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Cataract, Corneal opacity, Optic nerve hypoplasi...	ORPHA:141099
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr...	ORPHA:91500
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia, Long fingers, Micrognathia	OMIM:156610
Neu-Laxova Syndrome 1	Finger syndactyly, Cataract, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Ventri...	OMIM:256520
Neurooculorenal Syndrome	Iris atrophy, Dextrocardia, Short hallux, Micrognathia, Conjugated hyperbilirubinemia, Patent for...	OMIM:620305
Momo Syndrome	Large for gestational age, Bilateral microphthalmos, Obesity, Femoral bowing, Large hands, Short ...	ORPHA:2563
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Anophthalmia, Cataract, Hypoplasia of penis, Microphthalmia, Iris coloboma	ORPHA:2250
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of t...	ORPHA:364577
Acromelic Frontonasal Dysplasia	Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p...	ORPHA:1827
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Adams-Oliver Syndrome 1	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Pulmonary arteria...	OMIM:100300
Tibial Hemimelia	Absent tibia	OMIM:275220
Hallermann-Streiff Syndrome	Micrognathia, Congestive heart failure, Small hand, Uveitis, Developmental cataract, Short foot, ...	ORPHA:2108
Monosomy 9Q22.3	Cataract, Large for gestational age, Plantar pits, Cardiac fibroma, Umbilical hernia, Polydactyly...	ORPHA:77301
Phace Association	Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Microphthalmia, Iris coloboma, Broad thumb	ORPHA:1236
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Hypospadias, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, An...	OMIM:180500
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract, Ataxia	OMIM:610651
Incontinentia Pigmenti	Hypoplasia of the fovea, Cataract, Eosinophilia, Scarring, Keratitis, Leukocytosis, Retinal hemor...	OMIM:308300
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Ventricular septal defect, Hypospadias, Micrognathia, Vesicoureteral reflux, Renal cy...	OMIM:616975
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Micromelia, Bilateral renal hypoplasia, Finger clinodactyly, Clinodac...	ORPHA:508488
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Clinodactyly of the 5...	ORPHA:1587
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Witteveen-Kolk Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Anisocoria, Intracranial hemorrhage...	OMIM:613406
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Cataract, Camptodactyly of finger, Finger clinodactyly, Aplasia/Hypoplasia o...	ORPHA:306542
Renpenning Syndrome 1	Atrial septal defect, Cataract, Ventricular septal defect, Hypospadias, Micrognathia, Situs inver...	OMIM:309500
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Cataract, Unilateral renal agenesis, Cardiac myxoma, Cong...	OMIM:181270
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Micrognathia, ...	ORPHA:2879
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Trisomy 9P	Clinodactyly of the 5th finger, Abnormal pupil morphology, Brachydactyly	ORPHA:236
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia	OMIM:617914
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Micrognathia, Renal h...	OMIM:614083
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Hypoplasia of penis, Hypospadias, Talipes, Micrognathia, Postaxial hand polydactyly,...	ORPHA:2166
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Broad hallux, Aplasia of the thymus, Micrognathia, Pulmonary arterial hypertension, Unconjugated ...	OMIM:620186
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Developmental catar...	ORPHA:93325
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:229400
Skin Creases, Congenital Symmetric Circumferential, 2	Pes planus, Hypospadias, Micrognathia, Tapered finger, Long fingers, 2-3 toe syndactyly, Microcor...	OMIM:616734
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Treacher-Collins Syndrome	Hypoplasia of penis, Cataract, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the...	ORPHA:861
Charge Syndrome	Anophthalmia, Talipes, Abnormal tibia morphology, Vesicoureteral reflux, Bifid femur, Horseshoe k...	ORPHA:138
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Corneal crystals, Renal tubular dysfunction,...	ORPHA:411629
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Cataract, Chorioretinal dysplasia, Panniculitis, Cellulitis, Atrial septal defect, ...	ORPHA:2526
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Atrial septal defect, Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly,...	OMIM:300373
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cataract, Ventricular septal defect, Hypospadias, Micrognathia, Congestive heart failure, Small h...	ORPHA:444077
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Aicardi Syndrome	Missing ribs, Hiatus hernia, Small hand, Multiple lipomas, Hip dysplasia, Chorioretinal coloboma,...	ORPHA:50
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Pallister-Hall Syndrome	Large for gestational age, Ectopic kidney, Atrial septal defect, Atrioventricular canal defect, M...	ORPHA:672
Aicardi Syndrome	Cataract, Proximal placement of thumb, Missing ribs, Hiatus hernia, Chorioretinal lacunae, Lipoma...	OMIM:304050
Linear Nevus Sebaceus Syndrome	Microphthalmia, Genu recurvatum, Iris coloboma	ORPHA:2612
Nephronophthisis 11	Polyuria, Stage 5 chronic kidney disease, Anisocoria, Renal corticomedullary cysts, Hepatic fibro...	OMIM:613550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Buphthalmos, Hypoplas...	OMIM:253280
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Syndactyly, Atrial septal defect, Tricuspid regurgitation, B...	OMIM:612289
Knobloch Syndrome 1	Ataxia, Band keratopathy, Phthisis bulbi, Chorioretinal atrophy, Developmental cataract, Iris tra...	OMIM:267750
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Achalasia	OMIM:300858
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Ataxia, Urinary incontinence, Urinary urgency	OMIM:146500
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cataract, Hypospadias, Microphthalmia, Micropenis	OMIM:603457
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agenesis, Hypoplasia ...	OMIM:617666
Mowat-Wilson Syndrome	Cataract, Ventricular septal defect, Hypospadias, Abnormal heart morphology, Microcornea, Ectopia...	OMIM:235730
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Sclerocornea, Micrognathia, R...	OMIM:607932
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Bicuspid aortic valve, Down-sloping shoulders, Hypospadias, Hydroureter...	OMIM:309800
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Corneal opacity, Hypospadias, Aplasia/Hypoplasia o...	OMIM:219000
Monosomy 9P	Hypospadias, Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Congenit...	ORPHA:261112
Manitoba Oculotrichoanal Syndrome	Omphalocele, Microphthalmia, Anophthalmia	OMIM:248450
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Multiple joint contractures, Hypospadias, Optic nerve h...	ORPHA:468631
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Coats Disease	Leukocoria, Retinal telangiectasia	OMIM:300216
Kinsship Syndrome	Pes planus, Micrognathia, Coxa valga, Hip dislocation, Renal hypoplasia, Fibular hypoplasia, Hors...	OMIM:619297
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Hypospadias, Proximal placement of thumb, Micrognathia, Short thumb, Prea...	OMIM:113620
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Holoprosencephaly 7	Omphalocele, Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Uveitis, Vitreous hemorrhage, Leuk...	ORPHA:790
Holoprosencephaly 1	Microphthalmia, Micropenis, Hypoglycemia, Single ventricle	OMIM:236100
Fraser Syndrome	Omphalocele, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Anophthalmia, Multicystic ki...	ORPHA:2052
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, Micropenis	OMIM:610829
Holoprosencephaly 2	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Single ventricle	OMIM:157170
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Micrognathia, Ectopic kidn...	OMIM:164210
Vascular Ehlers-Danlos Syndrome	Keratoconus, Inguinal hernia, Congenital hip dislocation, Abnormal heart valve morphology, Telang...	ORPHA:286
Treacher Collins Syndrome 1	Abnormal heart morphology, Bilateral microphthalmos, Micrognathia	OMIM:154500
Isolated Arrhinia	Microphthalmia	ORPHA:1134

Histopathology

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

There is no histopathology data for Prdm4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prdm4.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The PR/SET domain zinc finger protein Prdm4 regulates gene expression in embryonic stem cells but plays a nonessential role in the developing mouse embryo.	Molecular and cellular biology (August 2013)	Prdm4^{tm1a(EUCOMM)Liz} Prdm4^{tm1b(EUCOMM)Liz}	PMC3811882

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Prdm4^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Prdm4^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Prdm4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Prdm4^{tm1c(EUCOMM)Hmgu}	Wild type floxed exon (post-Flp)	Mice
Prdm4^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Prdm4 MGI:1920093

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Echo

Adult LacZ

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Prdm4 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data