Gene Summary

Name:
bone morphogenetic protein 4
Synonyms:
Bmp2b,  Bmp2b-1,  Bmp-4,  Bmp2b1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal optic disk morphology Bmp4tm1b(EUCOMM)Hmgu HET Early adult 4.10×10-13
abnormal heart morphology Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
microphthalmia Bmp4tm1b(EUCOMM)Hmgu HET E12.5 0.00
abnormal iris morphology Bmp4tm1b(EUCOMM)Hmgu HET Early adult 8.97×10-08
decreased anxiety-related response Bmp4tm1b(EUCOMM)Hmgu HET Early adult 6.30×10-08
abnormal midbrain development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal retina outer nuclear layer morphology Bmp4tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal hindbrain development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
preweaning lethality, complete penetrance Bmp4tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal embryo size Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal retina inner nuclear layer morphology Bmp4tm1b(EUCOMM)Hmgu HET Early adult 0.00
increased cornea thickness Bmp4tm1b(EUCOMM)Hmgu HET Early adult 2.07×10-05
abnormal retina morphology Bmp4tm1b(EUCOMM)Hmgu HET Early adult 6.63×10-07
hyperactivity Bmp4tm1b(EUCOMM)Hmgu HET Early adult 4.71×10-37
abnormal forebrain development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
increased grip strength Bmp4tm1b(EUCOMM)Hmgu HET   Early adult 2.67×10-05
abnormal eye anterior chamber depth Bmp4tm1b(EUCOMM)Hmgu HET Early adult 3.28×10-05
abnormal embryo development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal neural tube closure Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
decreased total retina thickness Bmp4tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal embryo turning Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
embryonic growth retardation Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal allantois morphology Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
eyelids fail to open Bmp4tm1b(EUCOMM)Hmgu HET Early adult 1.82×10-06
embryonic lethality prior to tooth bud stage Bmp4tm1b(EUCOMM)Hmgu HOM   E12.5 0.00

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
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  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)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote Ambiguous
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland 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)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 100% (1 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Heart 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)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote Ambiguous
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote Ambiguous
Pancreas N/A heterozygote Ambiguous
N/A heterozygote Ambiguous
Pharynx N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote Ambiguous
Trachea N/A heterozygote Ambiguous
Trunk mesenchyme N/A heterozygote Ambiguous
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cecum 5.88% (22 of 374)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
mesenteric lymph node 0.32% (1 of 312)
olfactory lobe 0.17% (1 of 579)
oral epithelium 0.0%
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vas deferens 4.45% (17 of 382)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
heart ventricle 1.67% (1 of 60)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 511)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 506)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

Eye Morphology

VIP of left eye

9 Images

Eye Morphology

VIP of right fundus

9 Images

Eye Morphology

VIP of right eye

9 Images

Adult LacZ

LacZ Images Wholemount

18 Images

Eye Morphology

VIP of left fundus

9 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Bmp4 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 Bmp4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Bmp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 36
Cataract OMIM:613887
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 38
Developmental cataract OMIM:614691
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm... ORPHA:2838
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... OMIM:269400
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... OMIM:143400
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Congenital Primary Megaureter
Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,... ORPHA:617
Deafness, Autosomal Dominant 80
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... OMIM:619274
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Trident acetabulu... OMIM:617405
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Glaucoma, Ectopia lentis ORPHA:2084
Cataract 50 With Or Without Glaucoma
Cataract, Glaucoma, Persistent pupillary membrane OMIM:620253
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... ORPHA:93109
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Microspherophakia, Glaucoma, Deep anteri... OMIM:251750
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Miosis, Glaucoma, Chorior... OMIM:212550
Microcornea, Glaucoma, And Absent Frontal Sinuses
Glaucoma, Microcornea OMIM:156700
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Acropectoral Syndrome
Pectus excavatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Pectus carinatum, T... OMIM:605967
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Retinal detachment, Microphthalmia, Posterior embryotoxon, Chorioretinal... ORPHA:1473
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Anophthalmia OMIM:616428
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Trichomegaly
Cataract OMIM:190330
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure, Optic atrophy, Ptosis OMIM:620086
Urofacial Syndrome 1
Enuresis, Hydronephrosis, Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethr... OMIM:236730
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Glaucoma, Posterior embryot... OMIM:601631
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Acropectoral Syndrome
Abnormal thorax morphology, Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Renal Dysplasia
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... ORPHA:93108
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Birdshot Chorioretinopathy
Cataract, Vitreous floaters, Ocular hypertension, Abnormal retinal vascular morphology, Epiretina... ORPHA:179
Cataract 42
Cataract, Developmental cataract OMIM:115900
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, EEG abnormality, Peripheral vitreous opacities, Optic nerve hypoplasia, Un... ORPHA:137902
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:616002
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Optic nerve aplasia, Morning glory anomaly, Microphthalmia, Chorioretinal ... OMIM:120200
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Glaucoma 3, Primary Congenital, A
Buphthalmos, Late onset congenital glaucoma OMIM:231300
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Megalocornea
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... OMIM:309300
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Ectopia pupillae, Clinodactyly, Astigmatism, Persistence of primary teeth, Enamel hypop... OMIM:618727
Retinitis Pigmentosa
Cataract, Conductive hearing impairment, Hypogonadism, Abnormal retinal vascular morphology, Hypo... ORPHA:791
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal atrophy, Cone/cone-rod dystrophy, Metaphyseal irregularity, Bowing of the legs, Short pha... ORPHA:85167
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Microphthalmia, Abnorma... OMIM:251270
Vesicoureteral Reflux 3
Recurrent urinary tract infections, Hydronephrosis, Grade IV vesicoureteral reflux, Hydroureter, ... OMIM:613674
Trisomy 13
Abnormal morphology of female internal genitalia, Abnormal retinal vascular morphology, Multiple ... ORPHA:3378
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Ventricul... ORPHA:2345
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... OMIM:601331
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Neovascular Glaucoma
Abnormal uvea morphology, Retinal vascular proliferation, Retinal detachment, Abnormal anterior c... ORPHA:94058
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... OMIM:620056
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Renal Hypodysplasia/Aplasia 3
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... OMIM:617805
Aniridia 1
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Retinal vascular tortuosity, Ectopia lentis,... OMIM:106210
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormal optic disc morphology, Underdeveloped superior crus of antihelix, Decreased testicular s... ORPHA:293967
Caudal Duplication
Spina bifida, Myelomeningocele, Renal hypoplasia/aplasia, Abnormal penis morphology, Ureteral dup... ORPHA:1756
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Severe sensorineural hearing impairment, Abnormal pinna morphology, Optic disc pallor, Small pitu... OMIM:614195
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... OMIM:611555
Coats Disease
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... ORPHA:190
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the bladder, Hypoplasia of penis, Patent ductus arteriosus, Abnormali... ORPHA:2547
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Sha... OMIM:221900
Leber Congenital Amaurosis 1
Cataract, Eye poking, Pigmentary retinopathy, Fundus atrophy, Hyperthreoninuria, Keratoconus, Sen... OMIM:204000
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Multipl... ORPHA:66637
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Short thumb, Abnormal antihelix morphology, Hearing impairment, Chorior... OMIM:274205
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Donnai-Barrow Syndrome
Cataract, Broad nasal tip, Low-set ears, Proteinuria, Iris coloboma, Short nose, Retinal detachme... OMIM:222448
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Ventricular septal defect, Short neck, Fused cervical vertebrae, Sprengel anomaly, Cer... OMIM:214300
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Glaucoma 1, Open Angle, A
Abnormal iris vasculature, Glaucoma OMIM:137750
Cataract 7
Developmental cataract OMIM:115660
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Short neck, Microphthalmia, Narrow chest, Pericardi... OMIM:613885
Norrie Disease
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Microphthalmia, Shallow anterior chambe... OMIM:310600
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Tetralogy Of Fallot And Glaucoma
Developmental glaucoma OMIM:187501
Cofs Syndrome
Cataract, Camptodactyly of finger, Abnormal nasal morphology, Hypogonadism, Death in infancy, Mic... ORPHA:1466
Microphthalmia, Syndromic 3
Cataract, Cryptorchidism, Optic nerve aplasia, Micropenis, Anterior pituitary hypoplasia, Bilater... OMIM:206900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Thoracic Dysostosis, Isolated
Short ribs, Pectus excavatum, Bell-shaped thorax OMIM:187750
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Broad nasal tip, Depressed nasal bridge, Protruding ear, Astig... OMIM:152950
Microphthalmia, Isolated, With Cataract 1
Cataract, Miosis, Microphthalmia OMIM:156850
Retinitis Pigmentosa 42
Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Cystoid macu... OMIM:612943
Stickler Syndrome Type 2
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Sensorineural ... ORPHA:90654
Nephronophthisis 20
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... OMIM:617271
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Microphthalmia, Anterior synechiae of the anterior chamber, Hypoplasia o... OMIM:604229
Leber Congenital Amaurosis 2
Cataract, Eye poking, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Att... OMIM:204100
Wagner Vitreoretinopathy
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... OMIM:143200
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma OMIM:147630
Nance-Horan Syndrome
Cataract, Prominent nasal bridge, Protruding ear, Mandibular prognathia, Retinal detachment, Shor... ORPHA:627
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Stickler Syndrome, Type Ii
Cataract, Retinal detachment, Anteverted nares, Long fingers, Abnormal vitreous humor morphology,... OMIM:604841
Oculofaciocardiodental Syndrome
Short thumb, Hearing impairment, Ectopia lentis, Iris coloboma, Bifid nasal tip, Microphthalmia, ... ORPHA:2712
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract, Rod-cone dystrophy, Hearing impairment OMIM:300719
Prune Belly Syndrome
Patent ductus arteriosus, Hydronephrosis, Congenital posterior urethral valve, Hydroureter OMIM:100100
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Miosis, Glaucoma, Microcoria OMIM:156600
Autosomal Recessive Stickler Syndrome
Cataract, Vitreoretinopathy, Astigmatism, Retinal detachment, Abnormal epiphysis morphology, Sens... ORPHA:250984
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M... OMIM:617641
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Congenital Rubella Syndrome
Cataract, Abnormal metaphysis morphology, Microphthalmia, Abnormality of retinal pigmentation, Se... ORPHA:290
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney OMIM:602200
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Gombo Syndrome
Microphthalmia, Abnormal heart morphology, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Cerulean cataract, Posterior cortical cataract, Limited elbow extension, Anterior subca... ORPHA:67036
Walker-Warburg Syndrome
Cataract, Chorioretinal dysplasia, Cryptorchidism, Low-set ears, Iris coloboma, Protruding ear, P... ORPHA:899
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... OMIM:610202
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Metatropic Dysplasia
Relatively short spine, Flared iliac wing, Halberd-shaped pelvis, Metaphyseal irregularity, Hyper... OMIM:156530
Microphthalmia With Brain And Digit Anomalies
Cataract, Postaxial foot polydactyly, Cryptorchidism, Iris coloboma, Proximal placement of thumb,... ORPHA:139471
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Cataract, Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morpho... ORPHA:1856
Donnai-Barrow Syndrome
Proteinuria, Iris coloboma, Short nose, Retinal detachment, Posteriorly rotated ears, Wide anteri... ORPHA:2143
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Isosexual precocious puberty, Retinal detachment, Abnormal femoral neck/hea... ORPHA:2788
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Syndactyly, Abnormal heart morphology, Upper limb phoc... ORPHA:294975
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Short neck, Abnormality of the ureter, Kyphosis, Abnormal rib morphology, Abnor... ORPHA:2522
Retinal Dystrophy And Obesity
Peripapillary atrophy, Astigmatism, Retinal detachment, Retinal dots, Attenuation of retinal bloo... OMIM:616188
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Abnormality of the ear, Polycystic ovaries, Pigmentary retinopathy, Hypergo... OMIM:268020
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... OMIM:225200
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... OMIM:613005
Prune Belly Syndrome
Recurrent urinary tract infections, Abnormality of the ureter, Hydroureter, Renal insufficiency, ... ORPHA:2970
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Low-set ears, Iris coloboma, Protruding ear, Hypoplasi... ORPHA:85284
Diabetic Embryopathy
Hydronephrosis, Spinal dysraphism, Micropenis, Renal hypoplasia/aplasia, Ureteral duplication ORPHA:1926
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Cataract,... ORPHA:891
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Broad nasal tip, Retrognathia, Retinal telangiectasia, Retinal detachment, Mandibular p... OMIM:620157
Retinitis Pigmentosa 86
Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618613
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Astigmatism, Retinal detachment, Optic disc pallor, Abnormality of macul... OMIM:300476
Retinitis Pigmentosa 13
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... OMIM:600059
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... OMIM:610805
Cockayne Syndrome B
Death in childhood, Square pelvis bone, Pigmentary retinopathy, Abnormal auditory evoked potentia... OMIM:133540
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Subcapsular cataract, Decreased nerve conduction velocity, Intention tremor, Sensorineu... OMIM:612674
Wagr Syndrome
Cataract, Cryptorchidism, Ambiguous genitalia, Hearing abnormality, Micrognathia, Aplasia/Hypopla... ORPHA:893
Knobloch Syndrome 1
Hydronephrosis, Peripapillary atrophy, Bifid ureter, Renal duplication, Vitreoretinopathy, Iris t... OMIM:267750
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Attenuation of retinal ... OMIM:604393
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Hearing impairment, Tremor, Optic atrophy OMIM:165300
Kyphomelic Dysplasia
Lateral clavicle hook, Joint stiffness, Flat acetabular roof, Missing ribs, Anterior rib cupping,... ORPHA:1801
Stickler Syndrome Type 1
Cataract, Short nose, Retinal detachment, Abnormal epiphysis morphology, Abnormality of vertebral... ORPHA:90653
Distal Deletion 6P
Ectopia pupillae, Low-set ears, Underdeveloped nasal alae, Abnormal anterior chamber morphology, ... ORPHA:96125
Thoracomelic Dysplasia
Abnormality of fibula morphology, Abnormal metaphysis morphology, Limb undergrowth, Short ribs, B... ORPHA:1803
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Tubulointerst... OMIM:613092
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Hypopigmentation of the fundus, Oligosacchariduria, Short nose, Retinal detachment, Fla... ORPHA:163649
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis, Patent ductus arteriosus OMIM:618845
Galactosemia Iv
Cataract OMIM:618881
Leber Congenital Amaurosis
Abnormal optic disc morphology, Cataract, Hearing impairment, Abnormality of retinal pigmentation... ORPHA:65
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Exudative Vitreoretinopathy 6
Cataract, Retinal exudate, Cortical cataract, Retinal detachment, Tractional retinal detachment, ... OMIM:616468
Focal Dermal Hypoplasia
Camptodactyly of finger, Horseshoe kidney, Hearing impairment, Abnormality of the middle ear, Toe... ORPHA:2092
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Ocular hypertension, Increased cup-to-disc ratio OMIM:618880
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Macular atrophy, Optic disc pallor, Microphthalmia, Micrognathia, Prominent nose, Retin... OMIM:616171
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Uveal Melanoma
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Inferior lens subluxation ORPHA:39044
Galloway-Mowat Syndrome 1
Hand clenching, Joint contracture of the hand, Dystonia, Proteinuria, Camptodactyly, Microphthalm... OMIM:251300
Norrie Disease
Protruding ear, Abnormal retinal vascular morphology, EEG abnormality, Aplasia/Hypoplasia of the ... ORPHA:649
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormal sc... ORPHA:2141
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Calcaneovalgus deformity, Bilateral sensorineural hearing impairment, ... ORPHA:521445
Stickler Syndrome, Type V
Cataract, Vitreoretinopathy, Retinal detachment, Sensorineural hearing impairment OMIM:614284
Galactosialidosis
Cherry red spot of the macula, Corneal opacity, Hearing impairment ORPHA:351
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short middle phalanx... OMIM:617927
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... ORPHA:2334
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Microphakia, Phthisis bulbi, Ocular hypertension, Rod-cone dystrophy, Oc... OMIM:612109
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Thoracic dysplasia, Lateral clavicle hook, Ambiguous genitalia, Preaxial polydactyly, Postaxial p... OMIM:615503
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Death in childhood, Retinal detachment, Microphthalmia, Corneal opacity, Coloboma OMIM:613153
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive... OMIM:122600
Cat-Eye Syndrome
Hydronephrosis, Iris coloboma, Hip dysplasia, Renal hypoplasia/aplasia, Microphthalmia, Hearing i... ORPHA:195
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Ventricular septal defect, Atrial septal defect, Left ventri... ORPHA:860
Bardet-Biedl Syndrome 16
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Renal agenesis OMIM:615993
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Ocular hypertension, Astigmatism, Anterior synechiae of the anterior chamber, C... ORPHA:98973
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia, Retinal nonattachment, Vitelliform-like macular lesions ORPHA:99000
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Caudal Regression Syndrome
Arrhinencephaly, Ectopic kidney, Abnormality of the ureter, Renal insufficiency, Ureteral duplica... ORPHA:3027
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Ocular hypertension, Increased cup-to-disc ratio OMIM:617272
Preaxial Hallucal Polydactyly
Diabetes mellitus, Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Papillorenal Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Proteinuria, Chronic kidney disease, Macular dege... OMIM:120330
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Achondrogenesis Type 2
Cataract, Hypoplastic ilia, Retinal detachment, Hearing impairment, Delayed proximal femoral epip... ORPHA:93296
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Renal cyst, Renal dysplasia, Ureteral agenesis, Renal hypoplasia OMIM:236500
Pierson Syndrome
Cataract, Death in childhood, Proteinuria, Retinal vascular tortuosity, Hypopigmentation of the f... OMIM:609049
Polycystic Kidney Disease 5
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... OMIM:617610
Bardet-Biedl Syndrome 5
Micropenis, Polydactyly, External genital hypoplasia, Hypogonadism, Syndactyly, Brachydactyly OMIM:615983
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Syndactyly, Microphthalmia, Hearing impairment, Brachydactyly, Coloboma, Clinodact... OMIM:610023
Spondylo-Ocular Syndrome
Cataract, Low-set ears, Iris hypopigmentation, Abnormal antihelix morphology, Retinal detachment,... ORPHA:85194
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Hypoplastic ilia, Lateral clavicle hook, Ambiguous genitali... OMIM:617895
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Optic nerve aplasia, Bilateral single transverse palmar creases, Underdeveloped n... ORPHA:264200
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Duane Retraction Syndrome
Optic disc hypoplasia, Hearing impairment, Preaxial hand polydactyly, Hypoplasia of the radius, T... ORPHA:233
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Short ribs, Metaphyseal widening, Bel... OMIM:614524
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Biemond Syndrome Type 2
Delayed puberty, Hypogonadism, Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Axial Spondylometaphyseal Dysplasia
Acromesomelia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, P... ORPHA:168549
Asperger syndrome susceptibility, X-linked 2
Abnormal repetitive mannerisms OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Abnormal repetitive mannerisms OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal repetitive mannerisms OMIM:608631
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Acrodysostosis 1 With Or Without Hormone Resistance
Broad nasal tip, Short metatarsal, Hearing impairment, Elevated circulating thyroid-stimulating h... OMIM:101800
Poland Syndrome
Dextrocardia, Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomaly, Rib fusion OMIM:173800
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Metaphyseal widening, Short ribs, Hypoplastic... OMIM:187760
Leber Congenital Amaurosis 8
Cataract, Eye poking, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atr... OMIM:613835
Nephronophthisis 13
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... OMIM:614377
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Microphthalmia, Aplasia of the... OMIM:615297
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Hypoplastic ilia, Hip dislocation, Genu varum, Proximal placement of thumb, S... OMIM:613330
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Ectopia pupillae, 3-4 finger syndactyly, Microphthalmia, Sclerocornea, 2-3 toe syndacty... OMIM:615877
Bardet-Biedl Syndrome 11
Polydactyly, Hypogonadism OMIM:615988
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Homocystinuria, Shallow anterior chamber, Ocular hypertension, Ectopia lentis, Microphthalmia, Co... OMIM:601552
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Smith-Magenis Syndrome
Chronic otitis media, EEG abnormality, Toe syndactyly, Abnormal repetitive mannerisms, Brachydact... ORPHA:819
Persistent Hyperplastic Primary Vitreous
Cataract, Angle closure glaucoma, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Sha... ORPHA:91495
Joint Laxity, Short Stature, And Myopia
Iris coloboma, Retinal detachment, Hearing impairment, Chorioretinal coloboma, Talipes equinovarus OMIM:617662
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Short middle phalanx of finger, Fu... ORPHA:1436
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Urogenital sinus anomaly, Hydroureter, Renal hypoplasia/aplasia, Abnormality of t... ORPHA:2973
Renal Coloboma Syndrome
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal ... ORPHA:1475
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Proximal placement of thumb, Ventricular septal defect, Abnormal ... ORPHA:93267
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract, Abnormal macular morphology, Hearing impairment, Chorioretinal hy... ORPHA:414
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Genu varum, Megalocornea, Astigmatism, Iridodonesis, EEG abnormality, Abnormal an... ORPHA:2479
Micro Syndrome
Cataract, Hydronephrosis, Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal localizatio... ORPHA:2510
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy OMIM:600057
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis, Increased axial length of the globe OMIM:110150
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal sacrum morphology, Scoliosis, Renal hypoplasia/aplasia, Mic... ORPHA:1988
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus excavatum, Short ribs, Missing ribs, Pectus carinatum, Pseudoarthrosis OMIM:618155
Knobloch Syndrome
Vesicoureteral reflux, Occipital encephalocele, Bifid ureter, Patent ductus arteriosus ORPHA:1571
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Cryptorchidism, Lateral clavicle hook, Postaxial polydactyly... OMIM:615633
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Short 1st metacarpal, Short thumb, Short neck, Horseshoe kidney, Ventr... OMIM:609053
Microphthalmia, Isolated, With Coloboma 5
Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Anophthalmia OMIM:611638
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Ectopic kidney, Optic disc pallor, Death in infancy, Microphthalmia, Ne... OMIM:613730
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Patent ductus arteriosus, Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Cataract 47
Cataract, Microcornea OMIM:612018
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Abnormal m... ORPHA:1354
Stankiewicz-Isidor Syndrome
Ureteral duplication, Micropenis, Patent ductus arteriosus, Hypospadias OMIM:617516
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Syncope, Right ventricular hypertrophy, Angina pectoris, Right v... OMIM:265400
Leber Congenital Amaurosis 9
Macular atrophy, Eye poking, Retinal pigment epithelial mottling, Optic disc pallor, Macular colo... OMIM:608553
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Megalocornea, Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Abnormality i... ORPHA:370959
Bardet-Biedl Syndrome 12
Hydronephrosis, Cystic renal dysplasia, Hydroureter OMIM:615989
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Scoliosis, Short neck, Unilateral renal agenesis, Abnormal rib morphol... OMIM:118100
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... OMIM:614292
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment OMIM:618915
Short Syndrome
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Hypoplasia of the ... ORPHA:3163
Optic Atrophy-Intellectual Disability Syndrome
Prominent nasal bridge, Optic disc hypoplasia, Protruding ear, Abnormal helix morphology, Optic n... ORPHA:401777
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Hypoplasia of the iris, Optic disc coloboma, Male pseudohermaphroditism, Short ... OMIM:600092
Microphthalmia, Isolated, With Coloboma 9
Low-set ears, Iris coloboma, Retinal detachment, Microphthalmia, Macular coloboma, Sclerocornea, ... OMIM:615145
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Subcapsular cataract, Retinal exudate, Tractional retinal de... OMIM:601813
Renal Hypoplasia
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... ORPHA:93101
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... OMIM:614723
Microphthalmia, Lenz Type
Cataract, Hydronephrosis, Low-set, posteriorly rotated ears, Cryptorchidism, External ear malform... ORPHA:568
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Hypoplasia of the iris, Chorioretinal coloboma, Macrotia, Abn... ORPHA:1422
Microphthalmia, Syndromic 12
Ventricular septal defect, Microphthalmia, Neonatal death, Micrognathia, Hypoplastic left atrium,... OMIM:615524
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Warburg Micro Syndrome 1
Low-set ears, Cryptorchidism, External genital hypoplasia, Overlapping toe, Microphthalmia, Antev... OMIM:600118
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Hip dislocation, Coxa valga, Abnormal auditory evoked pote... OMIM:109120
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary arterial hypertension, Hypertension, Pulmonary aterial ... OMIM:178600
Wolfram Syndrome 1
Hydroureter, Neurogenic bladder, Hydronephrosis OMIM:222300
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pulverulent cataract, Pigmentary retinopathy, Retinal ... OMIM:193220
Atresia Of Urethra
Recurrent urinary tract infections, Hydronephrosis, Megacystis, Hydroureter, Patent urachus, Rena... ORPHA:105
Microphthalmia, Isolated 6
Retinal fold, Ocular hypertension, Microcornea, Microphthalmia OMIM:613517
Brittle Cornea Syndrome
Camptodactyly, Conductive hearing impairment, Hip dysplasia, Hallux valgus, Keratoglobus, Corneal... ORPHA:90354
Thauvin-Robinet-Faivre Syndrome
Bifid ureter, Renal cyst, Renal dysplasia, Renal malrotation, Nephroblastoma OMIM:617107
Morm Syndrome
Cataract, Hyperactivity, Retinal atrophy, Aggressive behavior, Retinal dystrophy ORPHA:75858
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Knobloch Syndrome 2
Vitreous floaters, Vitreoretinopathy, Retinal detachment, Enamel hypoplasia, Anterior cortical ca... OMIM:618458
Noonan Syndrome 9
Hydroureter OMIM:616559
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Broad toe, Preaxial foot poly... OMIM:186350
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Thoracic hemivertebrae, Short middle phalanx of finger, Fused... OMIM:309620
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Hip dislocation, Abnormality of the kidney, Genu varum, Tetralogy of Fallot, Horseshoe... ORPHA:3320
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Hinman Syndrome
Enuresis, Hydronephrosis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Microphthalmia, Bone spicule pi... OMIM:611040
Microphthalmia, Syndromic 5
Cataract, Cryptorchidism, Micropenis, Optic nerve hypoplasia, Microphthalmia, Ectopic posterior p... OMIM:610125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Low-set ears, Cryptorchidism, Retinal atrophy, Megalocornea, Retinal detachment, Atresi... OMIM:236670
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Subcapsular cataract, Retinal exudate, Re... OMIM:133780
Dubowitz Syndrome
Single transverse palmar crease, Broad nasal tip, Cryptorchidism, Low-set ears, Prominent nasal b... OMIM:223370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Death in childhood, Low-set ears, Retrognathia, Retinal detachment, Death in infancy, O... OMIM:614643
Nephronophthisis 16
Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kid... OMIM:615382
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hemivertebrae, 11 p... ORPHA:77298
Meckel Syndrome
Ambiguous genitalia, Urethral atresia, Preaxial hand polydactyly, Aplasia/Hypoplasia of the iris,... ORPHA:564
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cataract, Depressed nasal bridge, Hip dysplasia, Short nose, Retinal detachment, Posteriorly rota... OMIM:619833
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520