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 heart morphology Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal forebrain development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal retina inner nuclear layer morphology Bmp4tm1b(EUCOMM)Hmgu HET Early adult 1.13×10-05
abnormal retina outer nuclear layer morphology Bmp4tm1b(EUCOMM)Hmgu HET Early adult 5.55×10-11
abnormal allantois morphology Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Bmp4tm1b(EUCOMM)Hmgu HOM   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 9.01×10-08
abnormal embryo size Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
increased grip strength Bmp4tm1b(EUCOMM)Hmgu HET   Early adult 3.00×10-05
preweaning lethality, complete penetrance Bmp4tm1b(EUCOMM)Hmgu HOM   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 eye anterior chamber depth Bmp4tm1b(EUCOMM)Hmgu HET Early adult 3.08×10-06
microphthalmia Bmp4tm1b(EUCOMM)Hmgu HET E12.5 0.00
eyelids fail to open Bmp4tm1b(EUCOMM)Hmgu HET Early adult 1.89×10-06
abnormal embryo development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal midbrain development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
hyperactivity Bmp4tm1b(EUCOMM)Hmgu HET Early adult 1.46×10-39
abnormal optic disk morphology Bmp4tm1b(EUCOMM)Hmgu HET Early adult 8.54×10-14
abnormal retina morphology Bmp4tm1b(EUCOMM)Hmgu HET Early adult 7.22×10-08
decreased total retina thickness Bmp4tm1b(EUCOMM)Hmgu HET Early adult 2.80×10-05
abnormal hindbrain development Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal neural tube closure Bmp4tm1b(EUCOMM)Hmgu HOM E9.5 0.00

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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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 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%
mesenteric lymph node
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%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
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 Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain Ambiguous
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver Ambiguous
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin Ambiguous
spinal cord Ambiguous
stomach Ambiguous
tail Ambiguous
tail somite group Ambiguous
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

Embryo LacZ

LacZ images wholemount

4 Images

Eye Morphology

VIP of left fundus

9 Images

Eye Morphology

VIP of right eye

9 Images

Adult LacZ

LacZ Images Wholemount

18 Images

Eye Morphology

VIP of left eye

9 Images

Eye Morphology

VIP of right fundus

9 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 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... 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
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Glaucoma, Pigment deposition in the trab... OMIM:177650
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
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
Ectopia lentis, Glaucoma ORPHA:2084
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Glaucoma OMIM:620253
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Pectus carinatum, Pectus excavatum, Partial duplicatio... OMIM:605967
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Glaucoma, Ectopia lentis, B... OMIM:251750
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Corneal scarring, Glaucoma, Miosis, Chorioretinal coloboma, Cataract, Buphthalmos... OMIM:212550
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Sensorineural hearing impairment, C... ORPHA:1473
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Trichomegaly
Cataract OMIM:190330
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Iris cyst, Ptosis, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure OMIM:620086
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea, Glaucoma OMIM:156700
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Glaucoma, Rieger anomaly, P... OMIM:601631
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Microphthalmia, Retinal atrophy, Corneal opacity, Femoral bowing, T... OMIM:608940
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Cataract 42
Cataract, Developmental cataract OMIM:115900
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Ocular hypertension, Choroidal neovasculariz... ORPHA:179
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Microphthalmia/Coloboma 12
Microphthalmia, Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, ... OMIM:120200
Glaucoma 3, Primary Congenital, A
Buphthalmos, Late onset congenital glaucoma OMIM:231300
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Neovascular Glaucoma
Ocular hypertension, Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular p... ORPHA:94058
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Retinal atrophy, Corneal opacity, Short long bone, ... ORPHA:85167
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Astigmatism, Sandal gap, Thick nasal alae, Persistence of primary ... OMIM:618727
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormal... ORPHA:2345
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Catar... OMIM:251270
Trisomy 13
Bilateral single transverse palmar creases, Microphthalmia, Sensorineural hearing impairment, Mul... ORPHA:3378
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Norrie Disease
Optic atrophy, Microphthalmia, Buphthalmos, Aggressive behavior, Retinal dysplasia, Retinal detac... OMIM:310600
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Perifoveal ring of hyperautofluorescence, Peripapillar... OMIM:612943
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microphthalmia, Astigmatism, Aggressive behavior, Agitation, Protruding ear, Myopi... OMIM:152950
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular hypertension, Ocular anterior segment dysgenesis, Small pituitary gland, Band keratopathy,... OMIM:614195
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Glauc... OMIM:221900
Caudal Duplication
Renal hypoplasia/aplasia, Ureteral duplication, Myelomeningocele, Spina bifida, Abnormal penis mo... ORPHA:1756
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Contracture of the proximal interphalangeal joint of the 5... ORPHA:293967
Leber Congenital Amaurosis 1
Eye poking, Optic disc drusen, Keratoconus, Sensorineural hearing impairment, Fundus atrophy, Att... OMIM:204000
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the upper urinary tr... ORPHA:2547
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Donnai-Barrow Syndrome
Short nose, Retinal dystrophy, Retinal detachment, Sensorineural hearing impairment, Wide anterio... OMIM:222448
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Multi... ORPHA:66637
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Hearing impairment, Chorioretinal coloboma, Short thumb, Cataract,... OMIM:274205
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Glaucoma 1, Open Angle, A
Abnormal iris vasculature, Glaucoma OMIM:137750
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Cataract 7
Developmental cataract OMIM:115660
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short nec... OMIM:214300
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Meckel Syndrome, Type 8
Enlarged kidney, Microphthalmia, Narrow chest, Anophthalmia, Polycystic kidney dysplasia, Pericar... OMIM:613885
Cofs Syndrome
Optic atrophy, Microphthalmia, Sensorineural hearing impairment, Death in infancy, Camptodactyly ... ORPHA:1466
Tetralogy Of Fallot And Glaucoma
Developmental glaucoma OMIM:187501
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Genu valgum, Retinal detachment, Mega... OMIM:249310
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,... OMIM:206900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Leber Congenital Amaurosis 2
Eye poking, Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels,... OMIM:204100
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia, Miosis OMIM:156850
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Sensorineural hearing impairment, Corneal... ORPHA:90654
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Abnormal heart morphology, Brachydactyly, Clinodactyly OMIM:233270
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Polydactyly, Preaxial I
Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu... OMIM:174400
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Microcoria, Congenital
Miosis, Hypoplasia of the iris dilator muscle, Microcoria, Glaucoma OMIM:156600
Nance-Horan Syndrome
Supernumerary tooth, Microphthalmia, Protruding ear, Retinal detachment, Microcornea, Mandibular ... ORPHA:627
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Hearing impairment, Infertility, Rod-cone dystrophy OMIM:300719
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting... ORPHA:83461
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Autosomal Recessive Stickler Syndrome
Astigmatism, Genu valgum, Retinal detachment, Sensorineural hearing impairment, Vitreoretinopathy... ORPHA:250984
Oculofaciocardiodental Syndrome
Microphthalmia, Sensorineural hearing impairment, Bifid nasal tip, Flexion contracture of the 2nd... ORPHA:2712
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Microphthalmia, Sensorineural hearing impairment, Corneal opacity... ORPHA:290
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve, Patent ductus arteriosus OMIM:100100
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Metatropic Dysplasia
Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Cupped ribs, Flare... OMIM:156530
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney OMIM:602200
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal heart morphology, Upper limb phoc... ORPHA:294975
Walker-Warburg Syndrome
Optic atrophy, Microphthalmia, Protruding ear, Retinal dysplasia, Anophthalmia, Retinal detachmen... ORPHA:899
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Limited elbow extension, Posterior subcapsular cataract, Abnormal thumb morphology... ORPHA:67036
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Stickler Syndrome, Type V
Retinal detachment, Sensorineural hearing impairment, Vitreoretinopathy, Cataract OMIM:614284
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Proximal placement of thumb, Retinal dystrophy, Anophthalmia, Finger syndactyly, ... ORPHA:139471
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Distal Deletion 6P
Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Wide nose, Talipes equinova... ORPHA:96125
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific... ORPHA:1856
Donnai-Barrow Syndrome
Short nose, Retinal dystrophy, Retinal detachment, Sensorineural hearing impairment, Wide anterio... ORPHA:2143
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal vitreous humor morphology, Isosexual precocious puberty, Abnormal femora... ORPHA:2788
Kyphomelic Dysplasia
Lateral clavicle hook, Abnormal metaphysis morphology, Narrow chest, Short thorax, Undulate ribs,... ORPHA:1801
Knobloch Syndrome 1
Iris transillumination defect, Duplicated collecting system, Retinal detachment, Band keratopathy... OMIM:267750
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Morm Syndrome
Retinal dystrophy, Hyperactivity, Retinal atrophy, Cataract, Aggressive behavior ORPHA:75858
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Hypospadias, Hyperlordosis, Pectus excava... ORPHA:2522
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Subcapsular cataract, Hypergonadotropic hypogonadism, Abnormality of the ea... OMIM:268020
Retinal Dystrophy And Obesity
Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... OMIM:616188
Norrie Disease
Microphthalmia, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Sensorineural hearing impai... ORPHA:649
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Diabetes mellitus, Preaxial foot polydactyly OMIM:601759
Cone-Rod Dystrophy, X-Linked, 3
Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Ab... OMIM:300476
Leber Congenital Amaurosis
Keratoconus, Abnormal optic disc morphology, Hearing impairment, Abnormality of retinal pigmentat... ORPHA:65
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Hydronephrosis, Spinal dysraphism, Micropenis ORPHA:1926
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Retinal detachment, Sensorineural hearing impairment, Antever... OMIM:604841
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular edema, Macular exudate, Chorioretinal atrophy, Vi... ORPHA:891
Cockayne Syndrome B
Microphthalmia, Square pelvis bone, Sensorineural hearing impairment, Abnormal pinna morphology, ... OMIM:133540
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup... OMIM:614524
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Unilateral renal agenesis, Short thorax, Bilateral renal agenesis, Vertebral segme... OMIM:618845
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Retinal telangiectasia, Low hanging columella, Retinal detachment, Optic nerve hypo... OMIM:620157
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Hearing impairment, Cataract, Optic disc pallor OMIM:165300
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Protruding ear, Optic nerve hypoplasia, Vesicoureteral ref... ORPHA:85284
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed... OMIM:600059
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Subcapsular... OMIM:612674
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Wagr Syndrome
Hearing abnormality, Micrognathia, Displacement of the urethral meatus, Cataract, Ambiguous genit... ORPHA:893
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short nose, Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Reti... ORPHA:163649
Stickler Syndrome Type 1
Short nose, Abnormal vitreous humor morphology, Retinal detachment, Sensorineural hearing impairm... ORPHA:90653
Bardet-Biedl Syndrome 5
Polydactyly, External genital hypoplasia, Syndactyly, Hypogonadism, Brachydactyly, Micropenis OMIM:615983
Leber Congenital Amaurosis 4
Keratoconus, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Opti... OMIM:604393
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Talipes equinovarus, Microcornea, Prominent nose, Retinopathy, Mic... OMIM:616171
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short ribs, Femoral bowing, Short long... OMIM:615503
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Focal Dermal Hypoplasia
Microphthalmia, Renal hypoplasia/aplasia, Corneal opacity, Hypoplastic pelvis, Split foot, Upper ... ORPHA:2092
Bardet-Biedl Syndrome 11
Polydactyly, Hypogonadism OMIM:615988
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Glaucoma, Primary Closed-Angle
Ocular hypertension, Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Galloway-Mowat Syndrome 1
Microphthalmia, Narrow nasal ridge, Optic atrophy, Focal segmental glomerulosclerosis, Hypoplasia... OMIM:251300
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Retinopathy Of Prematurity
Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Irregular chondrocostal junctions, Hypopl... OMIM:187760
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Delayed pubic bone ossification, Retinal detachment, Short lo... ORPHA:93296
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Uveal Melanoma
Mydriasis, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Iris melanoma ORPHA:39044
Biemond Syndrome Type 2
Delayed puberty, Preaxial polydactyly, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Delayed eruption of permanent teeth, Retinal detachment, Abnormality o... ORPHA:521445
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Oculoauricular Syndrome
Microphakia, Short mandibular rami, Microphthalmia, Ocular hypertension, Phthisis bulbi, Ocular a... OMIM:612109
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
Galactosialidosis
Hearing impairment, Corneal opacity, Cherry red spot of the macula ORPHA:351
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Sprengel anomaly, Unilateral oligodactyly, Syndactyly, ... OMIM:173800
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Death in childhood, Retinal detachment, Coloboma, Corneal opacity, Cataract OMIM:613153
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Cataract OMIM:615181
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Smith-Magenis Syndrome
Chronic otitis media, Renal hypoplasia/aplasia, EEG abnormality, Delayed eruption of primary teet... ORPHA:819
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Cat-Eye Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Hearing impairment, Hydronephrosis, Chorioretinal colob... ORPHA:195
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Posterior Polymorphous Corneal Dystrophy
Ocular hypertension, Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opac... ORPHA:98973
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proxima... ORPHA:93267
Glaucoma 3, Primary Congenital, E
Ocular hypertension, Increased cup-to-disc ratio, Corneal stromal edema, Megalocornea OMIM:617272
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... ORPHA:860
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Proximal placement of thumb, Talipes equinovarus, P... OMIM:613330
Traboulsi Syndrome
Ocular hypertension, Retrognathia, Microphthalmia, Iris atrophy, Arachnodactyly, Short finger, Sp... OMIM:601552
Papillorenal Syndrome
Microphthalmia, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Renal malrotati... OMIM:120330
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Death in childhood, Hypoplasia of the ciliary body, Retinal... OMIM:609049
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions ORPHA:99000
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Abnormal antihelix morphology... ORPHA:85194
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Developmental glaucoma, Aniridia OMIM:206750
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
14Q22Q23 Microdeletion Syndrome
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... ORPHA:264200
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age... ORPHA:3027
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Narrow chest, Short ribs, Micromelia, Accelerated skel... OMIM:215045
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Cryptorchidism, Postaxi... OMIM:615633
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular hypertension, Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Hearing impair... OMIM:610023
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi... OMIM:101800
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Hypospadias, Anophthalmia, Microcornea, Coloboma, 2-3 toe syndactyly,... OMIM:615877
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Angle closure glauco... ORPHA:91495
Knobloch Syndrome
Occipital encephalocele, Vesicoureteral reflux, Bifid ureter, Patent ductus arteriosus ORPHA:1571
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Pectus excavatum, Missing ribs, Pseudoarthrosis OMIM:618155
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Protruding ear, Optic disc hypoplasia, Optic nerve hypoplasia, Keratoconus, Abnorm... ORPHA:401777
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Abno... ORPHA:1436
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Hearing impairment, Chorioretinal coloboma, Talipes equinovarus, Iris coloboma OMIM:617662
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Stickler Syndrome, Type Iv
Astigmatism, Genu valgum, Flat capital femoral epiphysis, Chorioretinal degeneration, Sensorineur... OMIM:614134
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology, Exudative retinal detachment, Subretina... ORPHA:209956
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidne... ORPHA:1988
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Sensorineural hearing impairment... ORPHA:2479
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hydronephrosis, Renal insufficiency, Patent ductus arteriosus OMIM:615996
Bladder Exstrophy And Epispadias Complex
Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney OMIM:600057
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c... ORPHA:414
Microphthalmia, Lenz Type
Microphthalmia, Renal hypoplasia/aplasia, Abnormal pinna morphology, Hypospadias, Low-set, poster... ORPHA:568
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Leber Congenital Amaurosis 8
Macular coloboma, Eye poking, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fu... OMIM:613835
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cardiomyopathy, Widening of cervical spinal canal, Cervical v... OMIM:606842
Micro Syndrome
Optic atrophy, Short nose, Microphthalmia, Low-set, posteriorly rotated ears, Hypoplasia of penis... ORPHA:2510
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ectopic kidney, Optic disc pallor, Death in infancy, Neonatal death, Cataract, Cr... OMIM:613730
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomel... ORPHA:1354
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Fused cervical vertebrae, Short 1st metacarpal, Abnorma... OMIM:609053
Stankiewicz-Isidor Syndrome
Ureteral duplication, Micropenis, Hypospadias, Patent ductus arteriosus OMIM:617516
Cataract 47
Cataract, Microcornea OMIM:612018
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Patent ductus arteriosus, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Male pseudohermaphroditism, Micromelia, Hypoplasia of the iris, Short phalanx o... OMIM:600092
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Abnormality iris morph... ORPHA:370959
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma OMIM:611638
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Scoliosis,... OMIM:118100
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Short nose, Acetabular dysplasia, Hammertoe, Retinal detachment, Hearing impairmen... OMIM:619833
Short Syndrome
Abnormal anterior chamber morphology, Sensorineural hearing impairment, Abnormal dental enamel mo... ORPHA:3163
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia OMIM:236500
Duane Retraction Syndrome
Aniridia, Ectopic kidney, Sensorineural hearing impairment, Abnormal pinna morphology, Hypoplasti... ORPHA:233
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Pulmonary Hypertension, Primary, 5
Angina pectoris, Pulmonary arterial hypertension, Right ventricular failure, Right ventricular hy... OMIM:265400
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Male pseu... ORPHA:1422
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... OMIM:601813
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Inguinal hernia, Y-shaped metatarsals, Postaxial hand polydactyly, 3-4 finger... OMIM:175700
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Microphthalmia/Coloboma 9
Macular coloboma, Microphthalmia, Ocular anterior segment dysgenesis, Retinal detachment, Microco... OMIM:615145
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Optic Atrophy 2
Optic atrophy OMIM:311050
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia, External genital hypoplasia, Anteverted nares, Microcornea, Low-se... OMIM:600118
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... OMIM:178600
Thanatophoric Dysplasia, Type Ii
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... OMIM:187601
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma OMIM:617107
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Hypoplastic left atrium, Micrognathia, Neonatal death, Ventricular ... OMIM:615524
Dubowitz Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, Hyperacti... OMIM:223370
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Microcornea, Coloboma, C... OMIM:610125
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoplasia of the maxilla,... OMIM:109120
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Large hands, Cryptorchidism, Preaxial hand polydactyly ORPHA:85287
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Retinal detachment, Sensorineural hearing impairment, Corneal dyst... ORPHA:90354
Vitreoretinochoroidopathy
Microphthalmia, Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retin... OMIM:193220
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Optic disc drusen, Cystoid... OMIM:611040
Microphthalmia, Isolated 6
Ocular hypertension, Microphthalmia, Microcornea, Retinal fold OMIM:613517
Ureterocele