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Gene: Brd4 MGI:1888520

Gene Summary

Name:

bromodomain containing 4

Synonyms:

MCAP, WI-11513, HUNK1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal cranium morphology	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	9.11×10^-06
decreased prepulse inhibition	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	7.88×10^-15
short tibia	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.23×10^-06
decreased total retina thickness	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.31×10^-22
increased grip strength	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	8.33×10^-07
preweaning lethality, complete penetrance	Brd4^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal retina blood vessel morphology	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.39×10^-05
embryonic lethality prior to organogenesis	Brd4^{tm1b(EUCOMM)Wtsi}	HOM	E9.5	0.00
abnormal retina outer nuclear layer morphology	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	5.79×10^-39
abnormal retina inner nuclear layer morphology	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.35×10^-07
abnormal eye posterior chamber depth	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.03×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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	100% (2 of 2)
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	100% (2 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Heart ventricle	N/A	heterozygote	100% (2 of 2)
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	100% (2 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
	N/A	heterozygote	100% (2 of 2)
Pharynx	N/A	heterozygote	100% (2 of 2)
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	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Trunk mesenchyme	N/A	heterozygote	100% (2 of 2)
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)

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	0.0%
hindlimb	0.0%
humerus pre-cartilage condensation	Ambiguous
inner ear	Ambiguous
intestine	Ambiguous
liver	0.0%
lower leg	Ambiguous
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
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	0.0%
spinal cord	Ambiguous
stomach	Ambiguous
tail	0.0%
tail somite group	0.0%
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

10 Images

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Human diseases caused by Brd4 mutations

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

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

Human diseases associated with Brd4 (3 diseases)
Human diseases predicted to be associated with Brd4 (845 diseases)

The table below shows human diseases associated to Brd4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cornelia De Lange Syndrome	Choanal atresia, Depressed nasal bridge, Cataract, Microcornea, Delayed eruption of teeth, Abnorm...	ORPHA:199
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Intrauterine growth retardation, Anteverted n...	OMIM:620568
Nut Midline Carcinoma	Pancreatoblastoma, Pancreatic squamous cell carcinoma	ORPHA:443167

The table below shows human diseases predicted to be associated to Brd4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis	OMIM:620374
Blue Diaper Syndrome	Nephrocalcinosis	OMIM:211000
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria	OMIM:616963
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I...	ORPHA:755
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Retrognathia, Hypogonadism, Microphthalmia, Short stature, Growth delay	ORPHA:2528
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria	OMIM:143880
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Hypercalciuria, Renal tubular acidosis	OMIM:239199
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis	ORPHA:33111
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Renal Tubular Acidosis Iii	Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Paget Disease Of Bone 6	Nephrocalcinosis	OMIM:616833
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting	ORPHA:564178
Microphthalmia, Syndromic 12	Wide nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Cryptorchidism, Anophthalmia, Neo...	OMIM:615524
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism	OMIM:274205
Cofs Syndrome	Wide nasal bridge, Cataract, Hypogonadism, Intrauterine growth retardation, Micrognathia, Abnorma...	ORPHA:1466
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Distal renal tubular acidosis, Impaired urinary acidification, Nephrolithiasis	OMIM:179800
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ...	OMIM:312300
Fibular Hemimelia	Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e...	ORPHA:93323
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Cataract, Intrauterine growth retardation, Micrognathia, Prominent nose, Microphth...	OMIM:610756
Spastic Paraparesis And Deafness	Short stature, Cataract, Hypogonadism	OMIM:312910
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu...	ORPHA:1972
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Mmep Syndrome	Mandibular prognathia, Cryptorchidism, Microphthalmia	ORPHA:3434
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis	OMIM:602722
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Intrauterine growth retardation, Micrognathia, Prominent nose, Microphthal...	OMIM:616171
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Warburg Micro Syndrome 1	Wide nasal bridge, Microcornea, External genital hypoplasia, Micrognathia, Anteverted nares, Cryp...	OMIM:600118
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting, Polyuria	OMIM:618314
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase con...	OMIM:614886
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Micrognathia, Microphthalmia	OMIM:616570
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Malar prominence, Intrauterine growth retardation, Micrognathia, Hypogonad...	ORPHA:48431
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Ambiguous genitalia, female, Micrognathia, Mandibular condyle hypop...	ORPHA:2975
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Orofaciodigital Syndrome Ix	Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly, Camptodactyly	OMIM:258865
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia	ORPHA:99879
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Wagr Syndrome	Cataract, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the iris, Displacement of the ureth...	ORPHA:893
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose	OMIM:137550
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis	OMIM:615633
Microphthalmia, Syndromic 8	Microcornea, Mandibular prognathia, Cryptorchidism, Microphthalmia	OMIM:601349
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Nephrocalcinosis, Hypercalciuria, Nephrolithiasis	OMIM:601198
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Polyuria	OMIM:620152
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Elevated circulating hepatic transaminase concentration, Absent vas deferens, Abnorm...	ORPHA:93111
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect...	OMIM:248190
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Cryptorchidism, Neonatal death, Microphthalmia, Hepatomegaly	OMIM:613730
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Nephrocalcinosis, Distal renal tubular acidosis	OMIM:611590
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Short stature, Hypo...	ORPHA:141333
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine	ORPHA:94086
Vitreoretinochoroidopathy	Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Pierpont Syndrome	Microcornea, Broad nasal tip, Cryptorchidism, Malar flattening, Micropenis, Microphthalmia, Short...	OMIM:602342
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Cataract, Rhizomelia, Micrognathia, Ambiguous genitalia, Microphthalmia	ORPHA:93267
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
X-Linked Intellectual Disability, Sutherland-Haan Type	Short stature, Decreased testicular size, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93950
Neurofaciodigitorenal Syndrome	Hypoplasia of the premaxilla, Intrauterine growth retardation, Prominent nasal bridge, Cryptorchi...	ORPHA:2673
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Malar flattening, Prominence of the p...	ORPHA:2412
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h...	ORPHA:3329
Otodental Syndrome	Cataract, Microcornea, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth,...	ORPHA:2791
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis	OMIM:146200
Eales Disease	Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis...	ORPHA:40923
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Intrauterine growth retardation, Cryptorchidism	ORPHA:2489
Malan Syndrome	Retrognathia, Astigmatism, Hyperplasia of the premaxilla, Advanced eruption of teeth, Mandibular ...	OMIM:614753
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Congenital Varicella Syndrome	Cataract, Intrauterine growth retardation, Microphthalmia	ORPHA:291
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus, Retinal deta...	OMIM:607143
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia	ORPHA:363741
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Bresek Syndrome	Iris coloboma, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Neonat...	ORPHA:85284
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Clitoral hypertrophy, Ambiguous genitalia, ...	OMIM:264270
Warburg Micro Syndrome 3	Small scrotum, Cataract, Microcornea, Postnatal growth retardation, Decreased testicular size, Mi...	OMIM:614222
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Decreased testicular size, Prominent nasal bridge, Cryptorchidism, Sho...	ORPHA:85279
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria	OMIM:613404
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Seckel Syndrome 2	Growth delay, Prominent nose, Micrognathia, Microphthalmia, Short stature, Hypospadias	OMIM:606744
Microvillus Inclusion Disease	Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Xeroderma Pigmentosum, Complementation Group G	Cataract, Growth delay, Microphthalmia	OMIM:278780
Pierpont Syndrome	Microcornea, Malar flattening, Cryptorchidism, Wide nasal ridge, Microphthalmia	ORPHA:487825
Micro Syndrome	Wide nasal bridge, Cataract, Microcornea, Intrauterine growth retardation, Micrognathia, Antevert...	ORPHA:2510
Familial Median Cleft Of The Upper And Lower Lips	Abnormal maxilla morphology, Abnormal mandible morphology	ORPHA:401942
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Short tibia, Synostosis of carpal bones, Finger synda...	ORPHA:1106
Frontonasal Dysplasia 1	Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the maxilla, Broad nasal tip, Bifid na...	OMIM:136760
Axenfeld-Rieger Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Growth delay, Aplasia/Hypop...	ORPHA:782
Warburg Micro Syndrome 4	Small scrotum, Microcornea, Decreased testicular size, Anteverted nares, Prominent nasal bridge, ...	OMIM:615663
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Recon Progeroid Syndrome	Growth delay, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Prominence of ...	OMIM:620370
Rere-Related Neurodevelopmental Syndrome	Choanal atresia, Iris coloboma, Peters anomaly, Postnatal growth retardation, Intrauterine growth...	ORPHA:494344
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria	OMIM:616026
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Umbilical hernia, Micrognathia, Encephalocele, Cryptorchidism, Ambi...	ORPHA:2166
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Cataract, Cryptorchidism, Microphthalmia	OMIM:601794
Warburg Micro Syndrome 2	Small scrotum, Cataract, Microcornea, Postnatal growth retardation, Prominent nasal bridge, Crypt...	OMIM:614225
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis	OMIM:617105
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis	ORPHA:500533
Baraitser-Winter Syndrome 1	Wide nasal bridge, Retrognathia, Postnatal growth retardation, Anteverted nares, Cryptorchidism, ...	OMIM:243310
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis	OMIM:611087
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Flared nostrils, Cataract, Retrognathia, Decreased response to growth hormone stimulation test, D...	ORPHA:280679
Hypophosphatemic Rickets, Autosomal Recessive, 2	Medullary nephrocalcinosis, Hyperphosphaturia	OMIM:613312
3Mc Syndrome 2	Wide nasal bridge, Postnatal growth retardation, Depressed nasal tip, Prominent nasal bridge, Cry...	OMIM:265050
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Hypoplasia of the nasal bone, Hyperkeratosis with erythema, Moderate postnatal growth r...	OMIM:118650
Joubert Syndrome 37	Wide nasal bridge, Decreased testicular size, Anteverted nares, Cryptorchidism, Hepatomegaly, Mic...	OMIM:619185
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu...	OMIM:607364
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Growth delay, Abnormality iris morphology	ORPHA:1617
Trichothiodystrophy 3, Photosensitive	Cataract, Carious teeth, Natal tooth, Bilateral cryptorchidism, Intrauterine growth retardation, ...	OMIM:616395
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia, Short stature, Iris coloboma	OMIM:610023
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti...	OMIM:601559
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Lowry-Maclean Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormality of the abdominal organs, Growth delay, Re...	ORPHA:2409
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Hypoplasia of the maxilla, Micrognathia, Decreased pineal volume, Microphthalmia, Hyper...	OMIM:301108
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Depressed nasal bridge, Underdeveloped nasal alae, Hypogonadism, Intrauterine grow...	ORPHA:228390
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Exocrine pancreat...	OMIM:137920
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren...	OMIM:208085
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Microcornea, Umbilical hernia, Micrognathia, Abnormal scrotum morphology, Cryptorc...	ORPHA:2505
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Anteverted nares, Micrognathia, Astigmatism, Microphthalmia, Wide nose	OMIM:619694
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypercalciuria, Polyuria	OMIM:300971
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Foveal Hypoplasia 2	Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia	OMIM:609218
Xk Aprosencephaly Syndrome	Abnormal nostril morphology, Abnormal external genitalia, Microphthalmia	ORPHA:3469
Nance-Horan Syndrome	Cataract, Microcornea, Prominent nose, Prominent nasal bridge, Microphthalmia, Supernumerary toot...	ORPHA:627
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Anophthalmia, Micropenis, Mic...	OMIM:610125
Cystic Fibrosis	Nasal polyposis, Elevated circulating hepatic transaminase concentration, Absent vas deferens, Ex...	ORPHA:586
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Cataract, Micrognathia, Cryptorchidism, Malar flattening, Hypogonadotropi...	ORPHA:1387
Oculocerebrocutaneous Syndrome	Cleft ala nasi, Anophthalmia, Cryptorchidism, Orbital encephalocele, Microphthalmia	OMIM:164180
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract, Overhanging nasal tip, Narrow nasal bridge, Malar flattening, Convex nasal ridge, Short...	ORPHA:85172
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cryptorchidism, Anophthalmia, Anterior pituitary hypoplasia, Microp...	OMIM:610829
Triploidy	Iris coloboma, Cataract, Intrauterine growth retardation, Micrognathia, Abnormality of the gallbl...	ORPHA:3376
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Micrognathia, Short nose, Microphthalmia	ORPHA:2547
Laurence-Moon Syndrome	Cataract, Cryptorchidism, Congenital hepatic fibrosis, Displacement of the urethral meatus, Short...	ORPHA:2377
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Hypoplasia of the maxilla, Broad nasal tip	ORPHA:2776
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Cataract, Decreased fertility, Primary amenorrhea, Delayed p...	ORPHA:2410
Martsolf Syndrome 2	Cataract, Broad nasal tip, Hypogonadotropic hypogonadism, Developmental cataract, Short stature	OMIM:619420
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Frontofacionasal Dysplasia	Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Microcornea, Cat...	ORPHA:1791
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Anophthalmia, Microphthalmia	OMIM:616428
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Optic dis...	OMIM:608940
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno...	ORPHA:356961
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Abnormal mandible mo...	ORPHA:83451
Premature Ovarian Failure 12	Primary amenorrhea, Microphthalmia	OMIM:616947
Microphthalmia, Syndromic 13	Short stature, Microcornea, Iris coloboma, Microphthalmia	OMIM:300915
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Apparent Mineralocorticoid Excess	Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency	ORPHA:320
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp...	ORPHA:2088
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria	OMIM:615398
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Postnatal growth r...	OMIM:241410
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Cerebrooculofacioskeletal Syndrome 1	Cataract, Carious teeth, Delayed eruption of teeth, Prominent nose, Micrognathia, Prominent nasal...	OMIM:214150
Congenital Rubella Syndrome	Cataract, Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Spleno...	ORPHA:290
Erythrokeratodermia Variabilis	Cataract, Patchy palmoplantar hyperkeratosis, Abnormal testis morphology, Corneal opacity, Short ...	ORPHA:317
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Meckel Syndrome, Type 8	Depressed nasal ridge, Occipital encephalocele, Encephalocele, Anophthalmia, Ambiguous genitalia,...	OMIM:613885
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidism, Mic...	ORPHA:2728
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Bilateral micr...	ORPHA:2399
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Rhizomelia, Intrauterine growth retardation, Micrognathia, Microphthalmia,...	ORPHA:163966
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Nephrocalcinosis, Hypercalciuria, Phosphoethanolaminuria	OMIM:241500
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Hypogo...	ORPHA:1135
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Medullary nephrocalcinosis, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis	ORPHA:157215
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Microcornea, Umbilical herni...	OMIM:601499
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met...	OMIM:268305
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias	ORPHA:1381
Oculoskeletodental Syndrome	Nephrocalcinosis	ORPHA:557003
3-Methylglutaconic Aciduria Type 7	Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria	ORPHA:445038
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Delayed eruption of teeth, Umbilical hernia, Megalo...	ORPHA:915
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Aicardi Syndrome	Precocious puberty, Cataract, Postnatal growth retardation, Anteverted nares, Prominence of the p...	OMIM:304050
Fanconi Anemia, Complementation Group S	Dental malocclusion, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Ovarian...	OMIM:617883
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Depressed nasal bridge, Microcornea, Broad nasal tip, Cataract, Myopic astigmatism, Anteverted na...	OMIM:152950
Chondrodysplasia Punctata 1, X-Linked Recessive	Anosmia, Depressed nasal bridge, Cataract, Hypogonadism, Short nasal septum, Short stature, Short...	OMIM:302950
Cat-Eye Syndrome	Short stature, Intrauterine growth retardation, Iris coloboma, Microphthalmia	ORPHA:195
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anosmia, Cataract, Failure of eruption of permanent teeth, Hyposmia, Hypogonadism, External genit...	ORPHA:2250
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Trisomy 13	Cataract, Abnormal morphology of female internal genitalia, Intrauterine growth retardation, Cryp...	ORPHA:3378
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Cataract, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Micrognath...	OMIM:620157
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Dental malocclusion, Underdeveloped nasal alae, Malar flattening, Short stature	OMIM:616108
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Microphthalmia	OMIM:120433
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Postnatal growth r...	OMIM:614732
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Disproportionate short-limb short stature, Intrauterine growth retardation, Cryptorchid...	ORPHA:2772
Microphthalmia/Coloboma 5	Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Short columella, Abnorm...	ORPHA:1248
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Broad thumb, Toe syndactyly, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Cataract, Dental m...	OMIM:257850
Sanjad-Sakati Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Postnatal growth retardation, Microgna...	ORPHA:2323
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Micrognathia, Cryptorchidism, Delayed puberty, Corneal opacity, Mandibular prognathia, ...	ORPHA:496790
Hydrolethalus	Retrognathia, Micrognathia, Cryptorchidism, Abnormality of the sense of smell, Anophthalmia, Abno...	ORPHA:2189
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis	OMIM:614473
Marshall-Smith Syndrome	Choanal atresia, Recurrent upper respiratory tract infections, Microretrognathia, Depressed nasal...	OMIM:602535
Microphthalmia With Limb Anomalies	Flared nostrils, Depressed nasal bridge, Retrognathia, Postnatal growth retardation, Anophthalmia...	OMIM:206920
Temtamy Syndrome	Micrognathia, Iris coloboma, Convex nasal ridge, Microphthalmia	ORPHA:1777
Renal Agenesis	Absent vas deferens, Aplasia/hypoplasia of the uterus	ORPHA:411709
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Underdeveloped nasal alae, Micrognathia, Microphthalmia, Cryptor...	ORPHA:284160
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Anteverted nares, Micrognathia, Cryptorchidism, Microphthalmia	OMIM:619135
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Cryptorchidism, Anophthalmia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:139471
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:1473
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Supernumerary maxillary incisor, Prominent nose, Promi...	OMIM:302350
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Megalocornea, Fibular hypoplasia, Ulnar deviated ...	OMIM:164900
Kapur-Toriello Syndrome	Cataract, Bulbous nose, Intrauterine growth retardation, Cryptorchidism, Hypoplastic labia majora...	OMIM:244300
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph...	OMIM:211900
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	OMIM:609054
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Narrow nasal bridge, Keratoconjunctivitis sicca, Sclerocornea, Microphthal...	ORPHA:1806
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Abnormal dental enamel ...	ORPHA:439822
Hypogonadism-Cataract Syndrome	Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone leve...	OMIM:240950
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Micrognathia, Vaginal hernia, Convex nasal ridge	ORPHA:3173
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Short stature, Low hanging ...	OMIM:619318
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Iris coloboma, Bilater...	OMIM:610828
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Wide nasal bridge, Cataract, Occipital encephalocele, Disproportionate shor...	OMIM:224410
Sandestig-Stefanova Syndrome	Wide nasal bridge, Retrognathia, Intrauterine growth retardation, Developmental cataract, Convex ...	OMIM:618804
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Short stature, Hypoplasia of the maxilla, Convex nasal ridge	OMIM:156510
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Aplasia/Hypoplasia involving the nose, Micrognathia, Cryptorchidism, Micro...	ORPHA:3301
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Growth delay, Cryptorchidism, Anophthalmia, Microphthalmia, Sclerocornea, Hypoplas...	ORPHA:77298
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Microph...	ORPHA:858
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Elevated circulating luteinizing hormone level, Retrognathia, Decreased response to gro...	OMIM:300845
Garg-Mishra Progeroid Syndrome	Postnatal growth retardation, Bulbous nose, Micrognathia, Prominent nasal bridge, Microvesicular ...	OMIM:620601
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Occipital encephalocele, Developmental cataract, Microphthalmia	ORPHA:324416
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Breast hypoplasia, Intrauterine growth retardation, Micrognathia, Cryp...	OMIM:613804
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Cataract, Microphthalmia	OMIM:251270
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Kniest Dysplasia	Delayed epiphyseal ossification, Cataract, Rhizomelia, Dumbbell-shaped femur, Flared metaphysis, ...	OMIM:156550
Martsolf Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Cataract, Micrognathia, Crypt...	OMIM:212720
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Prominent nasal bridge, Peters anomaly, Bilateral cryptorchidism	OMIM:618652
Fryns Microphthalmia Syndrome	Unicornuate uterus, Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Lesch-Nyhan Syndrome	Hyperuricosuria, Nephrocalcinosis, Nephrolithiasis	OMIM:300322
Microphthalmia/Coloboma 7	Iris coloboma, Microphthalmia	OMIM:614497
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid...	ORPHA:416
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Ruijs-Aalfs Syndrome	Cataract, Posterior subcapsular cataract, Hypogonadism, Bulbous nose, Micrognathia, Prominent nas...	OMIM:616200
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Malar flattening, Short sta...	ORPHA:261295
X-Linked Intellectual Disability, Porteous Type	Short stature, Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93945
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Silver-Russell Syndrome 3	Retrognathia, Postnatal growth retardation, Antecubital pterygium, Ambiguous genitalia, Penoscrot...	OMIM:616489
Isolated Arrhinia	Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy...	ORPHA:1134
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Bilateral microphthalmos, Umbilical hernia, Bulbous no...	ORPHA:369891
Nanophthalmos	Microphthalmia	ORPHA:35612
Chromosome 8Q21.11 Deletion Syndrome	Wide nasal bridge, Cataract, Underdeveloped nasal alae, Micrognathia, Cryptorchidism, Sclerocorne...	OMIM:614230
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly,...	OMIM:263520
Matthew-Wood Syndrome	Annular pancreas, Abnormality of the uterus, Intrauterine growth retardation, Cryptorchidism, Ano...	ORPHA:2470
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Retrognathia, Anteverted nares, Decreased fertility, Keratoconjunctivitis sicca, Mic...	OMIM:234050
Hypomagnesemia 3, Renal	Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting...	OMIM:248250
Marden-Walker Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Anteverted nares, Cr...	OMIM:248700
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dispr...	OMIM:101800
Traboulsi Syndrome	Cataract, Dental malocclusion, Retrognathia, Ectopia lentis, Phakodonesis, Prominent nose, Promin...	OMIM:601552
Subaortic Stenosis-Short Stature Syndrome	Anteverted nares, Micrognathia, Biliary tract abnormality, Microphthalmia, Short stature	ORPHA:3191
Temtamy Syndrome	Ectopia lentis, Micrognathia, Convex nasal ridge, Microphthalmia, Hypoplasia of teeth, Iris colob...	OMIM:218340
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Micrognathia, Iris transillumination defect, Microphthalmia, Short stature	OMIM:617306
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Abnormality of the...	OMIM:228300
Developmental And Epileptic Encephalopathy 1	Micropenis, Growth delay, Microphthalmia	OMIM:308350
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase concentr...	OMIM:618805
Short Stature-Micrognathia Syndrome	Small scrotum, Rhizomelia, Cataract, Retrognathia, Intrauterine growth retardation, Micrognathia,...	OMIM:617164
Metaphyseal Chondrodysplasia, Jansen Type	Nephrocalcinosis, Hypercalciuria, Hyperphosphaturia	OMIM:156400
Lujan-Fryns Syndrome	Hypoplasia of the maxilla, Macroorchidism, Micrognathia, Prominent nasal bridge	ORPHA:776
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio...	OMIM:269400
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Wide nasal bridge, Cataract, Dental malocclusion, Bifid scrotum, Umbilical hernia, Micrognathia, ...	ORPHA:85321
Frontonasal Dysplasia 2	Wide nasal bridge, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Broad columell...	OMIM:613451
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyl...	OMIM:119800
Bosma Arhinia Microphthalmia Syndrome	Choanal atresia, Anosmia, Cataract, Dental malocclusion, Cryptorchidism, Primary amenorrhea, Hypo...	OMIM:603457
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Hypogonadism, Cataract	OMIM:254000
Osteoporosis-Pseudoglioma Syndrome	Short stature, Isosexual precocious puberty, Microphthalmia, Corneal opacity	ORPHA:2788
Ring Chromosome 10 Syndrome	Wide nasal bridge, Intrauterine growth retardation, Micrognathia, Microphthalmia	ORPHA:1438
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bifid nasal tip, Iris coloboma, Unilateral microphthalmos, Malar flattening, Enamel hypoplasia, S...	OMIM:618874
Aicardi Syndrome	Precocious puberty, Prominence of the premaxilla, Hepatoblastoma, Delayed puberty, Microphthalmia	ORPHA:50
19Q13.11 Microdeletion Syndrome	Cataract, Microcornea, Growth delay, Broad columella, Bifid scrotum, Underdeveloped nasal alae, R...	ORPHA:217346
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900
Acrodysostosis	Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Irre...	ORPHA:950
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi...	ORPHA:47159
Moebius Syndrome	Depressed nasal bridge, Decreased testicular size, Micrognathia, Hypogonadotropic hypogonadism, M...	OMIM:157900
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Microphthalmia	ORPHA:209956
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Bulbous nose, Intrauterine grow...	ORPHA:99776
Microphthalmia, Lenz Type	Hypospadias, Cataract, Microcornea, Delayed eruption of teeth, Cryptorchidism, Microphthalmia, Sh...	ORPHA:568
Baraitser-Winter Syndrome 2	Short stature, Retrognathia, Microphthalmia	OMIM:614583
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp...	OMIM:616300
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Hyperplasia of the maxilla	OMIM:618587
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Elevated circulating luteinizing hormone level, Tes...	OMIM:305400
Silver-Russell Syndrome Due To A Point Mutation	Microphallus, Bifid scrotum, Small placenta, Postnatal growth retardation, Intrauterine growth re...	ORPHA:397590
Meckel Syndrome	Accessory spleen, Depressed nasal ridge, Microcornea, Cataract, Micrognathia, Encephalocele, Cryp...	ORPHA:564
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Retrognathia, Hypogonadism, Keratoconjunctivitis sicca, Microphthalmia, Sh...	OMIM:601675
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Pseudopseudohypoparathyroidism	Depressed nasal bridge, Cataract, Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hyp...	OMIM:612463
Intellectual Disability-Strabismus Syndrome	Micropenis, Medullary nephrocalcinosis, Hypospadias	ORPHA:363528
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Conjunctival hyperemia, Mic...	OMIM:167730
Dental Anomalies And Short Stature	Short stature, Hypoplasia of the maxilla, Mandibular prognathia, Amelogenesis imperfecta	OMIM:601216
Sponastrime Dysplasia	Precocious puberty, Depressed nasal bridge, Rhizomelia, Mandibular prognathia, Disproportionate s...	ORPHA:93357
Hartsfield Syndrome	Depressed nasal bridge, Intrauterine growth retardation, Encephalocele, Microphthalmia	ORPHA:2117
Hereditary Bullous Dystrophy, Macular Type	Cataract, Decreased testicular size, External genital hypoplasia, Cryptorchidism, Corneal opacity...	ORPHA:1867
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi...	OMIM:619743
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Stromme Syndrome	Wide nasal bridge, Cataract, Microcornea, Accessory spleen, Peters anomaly, Stillbirth, Short col...	OMIM:243605
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Micrognathia, Microphthalmia, Corneal opacity, Antecubit...	OMIM:619339
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Developmental cataract, Mic...	ORPHA:335
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Bilateral microphthalmos, Postnatal growth retardation, Intrauterine growth retard...	ORPHA:93325
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Cataract, Microcornea, Annular pancreas, Delayed eruption of teeth, Hypog...	OMIM:268400
Vacterl With Hydrocephalus	Microcornea, Retrognathia, Intrauterine growth retardation, Micrognathia, Cryptorchidism, Anophth...	ORPHA:3412
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,...	OMIM:258315
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Hyperplasia of the maxilla	OMIM:613671
Cowden Syndrome 6	Varicocele, Hypoplasia of the maxilla, Cataract, Goiter, Micrognathia, Ovarian cyst, Palmoplantar...	OMIM:615109
Nanophthalmos 4	Microphthalmia	OMIM:615972
Stickler Syndrome Type 1	Cataract, Hypoplasia of the maxilla, Short nose	ORPHA:90653
Jacobsen Syndrome	Depressed nasal bridge, Iris coloboma, Microcornea, Annular pancreas, Intrauterine growth retarda...	OMIM:147791
Congenital Disorder Of Glycosylation, Type Iq	Depressed nasal bridge, Cataract, Elevated circulating hepatic transaminase concentration, Microp...	OMIM:612379
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Adams-Oliver Syndrome 2	Depressed nasal bridge, Bulbous nose, Micrognathia, Developmental cataract, Microphthalmia	OMIM:614219
Cowden Syndrome 5	Cataract, Hypoplasia of the maxilla, Goiter, Micrognathia, Ovarian cyst, Palmoplantar hyperkerato...	OMIM:615108
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Abnorm...	ORPHA:404440
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormally prominent line of Schwalbe, Rieger anomaly, Malar flattenin...	OMIM:109120
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Cataract, Microretrognathia, Bulbous nose, Astigmatism, Microphthalmia, Short ...	OMIM:618571
Harrod Syndrome	Cataract, Dental malocclusion, Intrauterine growth retardation, Cryptorchidism, Long nose, Hyposp...	ORPHA:2115
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small...	ORPHA:96334
Braddock-Carey Syndrome 2	Bulbous nose, Retrognathia, Microphthalmia	OMIM:619981
8Q22.1 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Hypogonadism, Cryptorchidism...	ORPHA:178303
Chromosome 13Q33-Q34 Deletion Syndrome	Wide nasal bridge, Penoscrotal transposition, Choanal atresia, Delayed eruption of teeth, Bifid s...	OMIM:619148
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Cholelithiasis, Decrease...	OMIM:300534
Keipert Syndrome	Short stature, Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge	ORPHA:2662
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Rodrigues Blindness	Microcornea, Narrow nasal bridge, Sclerocornea, Microphthalmia, Short stature	OMIM:268320
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Hyperopic astigmatism	ORPHA:397973
Frontorhiny	Cranium bifidum occultum, Hypoplasia of the maxilla, Cataract, Hypopituitarism, Encephalocele, Ba...	ORPHA:391474
Zellweger Syndrome	Wide nasal bridge, Depressed nasal bridge, Clitoral hypertrophy, Cataract, Hepatic failure, Micro...	ORPHA:912
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Wide nasal bridge, Cataract, Dental malocclusion, Ectopia pupillae, Thick nasal alae, Persistence...	OMIM:618727
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Short stature, Intrauterine growth retardation, Hypoplasia of the maxilla	OMIM:608154
Cadds	Cataract, Elevated circulating hepatic transaminase concentration, Cholestasis, Intrauterine grow...	ORPHA:369942
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Intrauterine growth retardation, Micrognathia, Cryptorchidism, Birth l...	OMIM:613805
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Congenital megau...	ORPHA:369837
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:99880
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis	OMIM:617913
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Depressed nasal bridge, Cataract, Hepatic fibrosis, Elevated circulating hepati...	OMIM:620005
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Stage 5 chronic kidney disease, In...	ORPHA:89938
Myhre Syndrome	Severe short stature, Abnormal penis morphology, Precocious puberty, Hypoplasia of the maxilla, M...	ORPHA:2588
Carpenter Syndrome 1	Precocious puberty, Depressed nasal bridge, Hypoplasia of the maxilla, Microcornea, Polysplenia, ...	OMIM:201000
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Clitoral hypertrophy, Intrauterine growth retardation, Micrognathia, Opacification of t...	OMIM:214110
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Elevated circulating luteinizing hormone level, Breast aplasia, Decrea...	ORPHA:3044
Cohen Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intrauterine growth retardation, Mic...	ORPHA:193
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Narrow nose, Intrauterine growth retardation, Cryptorchidism, Short stature, Long ...	OMIM:617602
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microretrognathia, Prominent nasal bridge, Cryptorchidism, Short stature	ORPHA:1307
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Disproportionate short-trunk short stature, Aplasia/Hypoplasia o...	ORPHA:85194
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:143
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Rhizomelia, Intrauterine growth retardation, Microphthalmia, Short stature...	OMIM:300863
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Renal Fanconi synd...	OMIM:276700
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria, Hyperprost...	ORPHA:73224
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Cataract, Anteverted nares, Micrognathia, Microphthalmia, Short nose	ORPHA:163649
Dubowitz Syndrome	Wide nasal bridge, Iris coloboma, Carious teeth, Broad nasal tip, Delayed eruption of teeth, Mega...	OMIM:223370
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Shallow anterior chamber, Microphthalmia	OMIM:267760
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic...	OMIM:610256
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Cataract, Rhizomelia, Microcornea, Ectopia pupillae, Anophthalmia, Microphtha...	OMIM:615877
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis	OMIM:616084
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Multiple pterygia	OMIM:601809
Treacher-Collins Syndrome	Wide nasal bridge, Small scrotum, Choanal atresia, Hypoplasia of the maxilla, Branchial fistula, ...	ORPHA:861
Fetal Alcohol Syndrome	Intrauterine growth retardation, Micrognathia, Anteverted nares, Microphthalmia, Short stature, S...	ORPHA:1915
Solitary Median Maxillary Central Incisor	Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Anophthalmia, Mi...	OMIM:147250
Elsahy-Waters Syndrome	Megalocornea, Hypospadias, Wide nose, Cataract, Hypoplasia of the maxilla, Impacted tooth, Bulbou...	OMIM:211380
Lissencephaly 8	Cataract, Occipital encephalocele, Microphthalmia	OMIM:617255
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Postnatal growth retardation, Cryptorchidism, Anophthalmia, Hypogo...	OMIM:206900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis	OMIM:240300
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Hypoplasia of the maxilla	OMIM:618302
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Short nose, Microphthalmia	OMIM:300887
Meckel Syndrome 14	Hepatic fibrosis, Microretrognathia, Occipital encephalocele, Retrognathia, Anteverted nares, Mic...	OMIM:619879
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Hypoplasia of the maxilla, Megalocornea, Umbilical hernia, Aniridia, Cryptorchidism, Anophthalmia...	ORPHA:1101
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Intrauterine growth retardation, Microphthalmia, Short stature, Hypoplasia of th...	OMIM:617914
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Umbilical hernia, Micrognathia, Microphthalmia, Lens coloboma, Mandibular prognathia	OMIM:618914
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Microphthalmia, Ma...	OMIM:612109
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo...	OMIM:603671
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia, Corneal opacity	OMIM:166300
Gracile Bone Dysplasia	Aniridia, Micropenis, Microphthalmia, Short stature, Asplenia, Hypoplastic spleen	OMIM:602361
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Cataract, Ectopia lentis, H...	ORPHA:560
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Hyperechogenic pancreas, Ab...	ORPHA:456312
Cockayne Syndrome B	Severe short stature, Microcornea, Carious teeth, Dental malocclusion, Hypoplasia of the iris, Po...	OMIM:133540
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Hallermann-Streiff Syndrome	Choanal atresia, Natal tooth, Underdeveloped nasal alae, Abdominal situs inversus, Micrognathia, ...	ORPHA:2108
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Clitoral hypertrophy, Microcornea, Retrognathia, Anteverted nares, Microphthalmia, Hypo...	OMIM:616449
Monosomy 18P	Wide nasal bridge, Carious teeth, Micrognathia, Microphthalmia, Short stature	ORPHA:1598
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Cataract, Optic disc hypoplasi...	ORPHA:79345
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Nephrocalcinosis	OMIM:618005
Cowden Syndrome 1	Varicocele, Hypoplasia of the maxilla, Cataract, Goiter, Micrognathia, Ovarian carcinoma, Ovarian...	OMIM:158350
Familial Tumoral Calcinosis	Nephrocalcinosis	ORPHA:53715
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	OMIM:217300
Trisomy 18	Choanal atresia, Iris coloboma, Microretrognathia, Growth delay, Microcornea, Cataract, Abnormal ...	ORPHA:3380
Meier-Gorlin Syndrome 3	Small scrotum, Clitoral hypertrophy, Hypoplasia of the maxilla, Microretrognathia, Breast hypopla...	OMIM:613803
Microphthalmia, Syndromic 9	Severe short stature, Wide nasal bridge, Multilobulated spleen, Bilateral microphthalmos, Intraut...	OMIM:601186
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Cataract, Bulbous nose, Anteverted nares, Microphthalmia, Short nose	OMIM:614105
Oculofaciocardiodental Syndrome	Bifid nasal tip, Cataract, Microcornea, Ectopia lentis, Delayed eruption of teeth, Prominent nasa...	ORPHA:2712
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased...	OMIM:601678
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Underdeveloped nasal alae, Cleft mandible, Bulbous nose, Intrauterine growth retardation, Promine...	ORPHA:364577
Skraban-Deardorff Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hyperplasia of the maxilla	OMIM:617616
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Cataract, Bifid scrotum, Postnatal growth retardation, Intrauterine growt...	OMIM:257300
Pelvis-Shoulder Dysplasia	Hydranencephaly, Microcornea, Bilateral microphthalmos, Micrognathia, Mesomelic/rhizomelic limb s...	ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Developmental cataract, Microphthalmia	OMIM:613155
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated circulating hepatic transaminase concentration, Retrognathia, Hyperplasia of the maxilla...	OMIM:300280
Wagro Syndrome	Cataract, Hypoplastic female external genitalia, Decreased testicular size, Aniridia, Micrognathi...	OMIM:612469
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Bulbous nose, Cryptorchidism, Microphthalmia, Overhanging nasal tip, Low hanging columella	OMIM:618494
Blepharophimosis, Ptosis, And Epicanthus Inversus	Wide nasal bridge, Depressed nasal bridge, Microcornea, Irregular menstruation, Female infertilit...	OMIM:110100
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria	ORPHA:428
Dyskeratosis Congenita	Cataract, Hypoplasia of the maxilla, Carious teeth, Hepatic failure, Palmoplantar keratoderma, Ab...	ORPHA:1775
Walker-Warburg Syndrome	Cataract, Microcornea, Cryptorchidism, Anophthalmia, Corneal opacity, Microphthalmia, Hypoplasia ...	ORPHA:899
Pseudoxanthoma Elasticum	Nephrocalcinosis	ORPHA:758
Premature Aging Syndrome, Penttinen Type	Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Narrow nose, Micrognathia, Pr...	OMIM:601812
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia	OMIM:246560
Rapp-Hodgkin Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Palmoplantar keratoderma, Decre...	OMIM:129400
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Cataract, Bulbous nose, Intrauterine growth retardation, Cryptorchidism, Micro...	ORPHA:250989
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Bulbous nose, Hypoplasia of the maxilla	OMIM:618737
Temtamy Preaxial Brachydactyly Syndrome	Hypoplasia of the maxilla, Abnormally large globe, Abnormal lens morphology, Micrognathia, Talon ...	ORPHA:363417
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Prominent nasal bridge, Mandibular prognathia	OMIM:300676
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Wide nasal bridge, Ocular albinism, Intrauterine growth retardation, Micrognathia, Microphthalmia	ORPHA:1352
Hallermann-Streiff Syndrome	Cataract, Natal tooth, Dental malocclusion, Underdeveloped nasal alae, Narrow nose, Micrognathia,...	OMIM:234100
Pycnodysostosis	Rhizomelia, Carious teeth, Disproportionate short-limb short stature, Hypoplasia of the maxilla, ...	ORPHA:763
Chromosome 1Q41-Q42 Deletion Syndrome	Depressed nasal bridge, Broad nasal tip, Supernumerary nipple, Anteverted nares, Cryptorchidism, ...	OMIM:612530
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda...	OMIM:617925
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, E...	OMIM:130650
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Kapur-Toriello Syndrome	Bulbous nose, Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis, Iris coloboma	ORPHA:2328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Occipital encephalocele, Peters anomaly, Megalocornea, Micrognathia, Cryptorchidism, Co...	OMIM:236670
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Microphthalmia	ORPHA:1528
Cockayne Syndrome Type 1	Cataract, Male hypogonadism, Elevated circulating hepatic transaminase concentration, Postnatal g...	ORPHA:90321
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Micrognathia, Retinal neovascularization	OMIM:619074
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Decreased response...	OMIM:216550
Microphthalmia With Linear Skin Defects Syndrome	Clitoral hypertrophy, Micrognathia, Anophthalmia, Male pseudohermaphroditism, Posterior embryotox...	ORPHA:2556
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Wide nasal bridge, Cataract, Microretrognathia, Growth delay, Umbilical hernia, Intrauterine grow...	OMIM:614052
Familial Isolated Hypoparathyroidism	Cataract, Delayed eruption of teeth, Abnormal dental enamel morphology, Hypoparathyroidism, Short...	ORPHA:2238
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Cataract, Corneal opacity	OMIM:613153
Lathosterolosis	Cataract, Microcornea, Intrahepatic cholestasis, Hepatic failure, Bulbous nose, Intrauterine grow...	ORPHA:46059
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Convex nasal ridge, Conjunctivitis, Iris coloboma	ORPHA:207
Bartsocas-Papas Syndrome 1	Axillary pterygium, Absent external genitalia, Hypoplasia of the maxilla, Popliteal pterygium, Un...	OMIM:263650
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypoplasia of the maxilla, Microcornea, Abnormally prominent line of Schwalbe,...	OMIM:180500
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu...	ORPHA:534
Ohdo Syndrome, X-Linked	Wide nasal bridge, Small scrotum, Depressed nasal bridge, Bulbous nose, Prominent nose, Micrognat...	OMIM:300895
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia...	ORPHA:79259
Dominant Beta-Thalassemia	Depressed nasal bridge, Hepatic fibrosis, Hyperplasia of the maxilla, Hypopituitarism, Malar prom...	ORPHA:231226
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased...	OMIM:241200
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Peters anomaly, Microphthalmia	OMIM:614526
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Carious teeth, Natal tooth, Branchial cyst, Micrognathia, Aplasia of the thymus, Microphthalmia, ...	OMIM:620186
Diaphanospondylodysostosis	Depressed nasal ridge, Depressed nasal bridge, Intrauterine growth retardation, Micrognathia, Dis...	OMIM:608022
Pallister-Hall Syndrome	Precocious puberty, Choanal atresia, Depressed nasal bridge, Natal tooth, Decreased response to g...	OMIM:146510
Aniridia-Absent Patella Syndrome	Cataract, Aniridia, Cryptorchidism	ORPHA:1069
Shwachman-Diamond Syndrome 1	Nephrocalcinosis	OMIM:260400
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Linear Skin Defects With Multiple Congenital Anomalies 1	Iris coloboma, Clitoral hypertrophy, Cataract, Peters anomaly, Ovotestis, Chordee, Micropenis, Sc...	OMIM:309801
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge	ORPHA:93262
Proboscis Lateralis	Choanal atresia, Microcornea, Cataract, Abnormality of the maxillary sinus, Abnormal facial skele...	ORPHA:141099
Ear-Patella-Short Stature Syndrome	Severe short stature, Hypospadias, Clitoral hypertrophy, Hypoplasia of the maxilla, Retrognathia,...	ORPHA:2554
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly, Bile du...	OMIM:603194
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Narrow nose, Narrow nasal bridge, Micrognathia, Prominent nasal bridge...	OMIM:309520
Rabson-Mendenhall Syndrome	Nephrocalcinosis, Long penis	ORPHA:769
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Cholelithiasis, Microcornea, Retrognathia, Male urethral meatus stenosis, ...	ORPHA:464738
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Microphthalmia	OMIM:602501
Roberts Syndrome	Cataract, Clitoral hypertrophy, Long penis, Underdeveloped nasal alae, Postnatal growth retardati...	ORPHA:3103
Congenital Syphilis	Cataract, Keratitis, Hyperplasia of the maxilla, Intrauterine growth retardation, Large placenta,...	ORPHA:499009
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Short stature, Short nose	ORPHA:79113
Ehlers-Danlos Syndrome, Classic Type, 1	Ectopia lentis, Umbilical hernia, Recurrent sinusitis, Short stature, Narrow maxilla	OMIM:130000
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Mosaic Variegated Aneuploidy Syndrome	Depressed nasal ridge, Cataract, Vaginal neoplasm, Intrauterine growth retardation, Micrognathia,...	ORPHA:1052
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias	OMIM:268310
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary...	OMIM:219800
Atelosteogenesis, Type Iii	Depressed nasal bridge, Hypoplasia of the maxilla, Rhizomelia, Micrognathia, Malar flattening	OMIM:108721
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Van Maldergem Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Growth delay, Dental malocc...	OMIM:615546
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Umbilical hernia, Astigmatism, S...	ORPHA:2095
Trisomy 8P	Hydronephrosis, Nephrocalcinosis, Fetal pyelectasis, Micropenis	ORPHA:264450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Depressed nasal bridge, Cataract, Ocular albinism, Anteverted nares, Crypt...	ORPHA:2719
Tetraamelia Syndrome 1	Choanal atresia, Absent external genitalia, Cataract, Micrognathia, Adrenal gland agenesis, Micro...	OMIM:273395
Crouzon Syndrome	Hypoplasia of the maxilla, Keratitis, Deviated nasal septum, Conjunctivitis, Mandibular prognathi...	OMIM:123500
Fryns Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Corneal opacity, Microphthalmi...	ORPHA:2059
Mosaic Trisomy 1	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Penile hypospadias, Hepatic agenesi...	ORPHA:1692
X-Linked Dominant Chondrodysplasia Punctata	Depressed nasal bridge, Microcornea, Cataract, Severe postnatal growth retardation, Microphthalmi...	ORPHA:35173
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Convex nasal ridge	ORPHA:1540
Saul-Wilson Syndrome	Cataract, Short distal phalanx of finger, Hypoplasia of the odontoid process, Pseudoepiphyses of ...	OMIM:618150
Manitoba Oculotrichoanal Syndrome	Bifid nasal tip, Broad nasal tip, Anophthalmia, Microphthalmia, Vaginal atresia, Corneopalpebral ...	OMIM:248450
Xeroderma Pigmentosum, Complementation Group B	Short stature, Cataract, Microphthalmia, Hypogonadism	OMIM:610651
Ablepharon Macrostomia Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Underdevelop...	ORPHA:920
Osteoglophonic Dysplasia	Severe short stature, Hypospadias, Rhizomelia, Hypoplasia of the maxilla, Choanal atresia, Erupti...	OMIM:166250
Frontofacionasal Dysplasia	Cranium bifidum occultum, Hypoplasia of the frontal bone, Cataract, Microcornea, Underdeveloped n...	OMIM:229400
Pelvis-Shoulder Dysplasia	Microphthalmia, Short stature, Spina bifida occulta, Opacification of the corneal stroma, Iris co...	OMIM:169550
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Fanconi Anemia	Micrognathia, Cryptorchidism, Microphthalmia, Hypospadias, Decreased fertility in males, Choanal ...	ORPHA:84
Mend Syndrome	Cataract, Micrognathia, Prominent nasal bridge, Cryptorchidism, Microphthalmia, Short stature, Ab...	ORPHA:401973
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Intrauterine growth retardation, Micrognathia, Prominent nasal bridge, ...	OMIM:610758
Tibial Hemimelia	Absent tibia	OMIM:275220
Cousin Syndrome	Hydranencephaly, Disproportionate short stature, Rhizomelia, Microcornea, Ambiguous genitalia, fe...	OMIM:260660
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening, Mandibular prognathia	ORPHA:1885
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Tr...	OMIM:616367
Split Lower Lip	Narrow maxilla	OMIM:183400
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Occipital encephalocele, Megalocornea, Microphthalmia, Opt...	ORPHA:370959
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly, Bile du...	OMIM:611134
Beta-Thalassemia Major	Depressed nasal bridge, Hepatic fibrosis, Hyperplasia of the maxilla, Hypopituitarism, Malar prom...	ORPHA:231214
Cutis Laxa, Autosomal Recessive, Type Ib	Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Prominence of the premaxilla, N...	OMIM:614437
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Lathosterolosis	Cataract, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulating aspartate aminotransfe...	OMIM:607330
Familial Mediterranean Fever	Nephropathy, Nephrotic syndrome, Nephrocalcinosis, Proteinuria	ORPHA:342
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Chromosome 13Q14 Deletion Syndrome	Iris coloboma, Umbilical hernia, Supernumerary nipple, Bulbous nose, Micrognathia, Cryptorchidism...	OMIM:613884
Dysostosis, Stanescu Type	Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal dental ename...	ORPHA:1798
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Cataract, Microspherophakia, Ectopia lentis, P...	OMIM:277600
Microcephaly-Capillary Malformation Syndrome	Short stature, Hypoplasia of the maxilla, Short nose, Wide nose	OMIM:614261
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:212550
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal stenosis	OMIM:241310
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Postnatal growth retardation, Malar flattening, Microphthalmia, Concave nas...	OMIM:302960
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting t...	ORPHA:83461
Proteus-Like Syndrome	Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Anteverted nares, Abnormal pu...	ORPHA:2969
Fanconi Anemia, Complementation Group L	Wide nasal bridge, Intrauterine growth retardation, Micrognathia, Depressed nasal tip, Aplasia of...	OMIM:614083
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Posterior Y-sutural cataract, Delayed eruption of teeth...	ORPHA:50814
Skin Creases, Congenital Symmetric Circumferential, 2	Wide nasal bridge, Small scrotum, Depressed nasal bridge, Carious teeth, Microcornea, Micrognathi...	OMIM:616734
Monosomy 13Q14	Wide nasal bridge, Cataract, Intrauterine growth retardation, Micrognathia, Prominent nasal bridg...	ORPHA:1587
Acitretin/Etretinate Embryopathy	Hypoplastic nasal septum, Anteverted nares, Micrognathia, Hypoplasia of the thymus, Aplasia/Hypop...	ORPHA:40366
Incontinentia Pigmenti	Cataract, Keratitis, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast hypo...	OMIM:308300
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Astigmati...	OMIM:609053
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Megalocornea,...	OMIM:228520
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Choanal atresia, Annular pancreas, Peters anomaly, Bulbous nose, Intrauterine growth retardation,...	OMIM:616975
Fibrous Dysplasia Of Bone	Precocious puberty in females, Abnormal facial skeleton morphology, Abnormal mandible morphology,...	ORPHA:249
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Coffin-Lowry Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Cataract, Craniofacial hyperostosis, Delayed e...	ORPHA:192
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Retrognathia, Supernumerary nipple, Bulbous nose, Micr...	OMIM:620098
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Depressed nasal bridge, Cataract, Megalocornea, Breast hypoplasia, Cryptorchidism,...	OMIM:601353
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, Short nose	OMIM:218000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia	ORPHA:231736
3P25.3 Microdeletion Syndrome	Depressed nasal bridge, Prominent nose, Micrognathia, Anteverted nares, Microphthalmia, Mandibula...	ORPHA:435638
Floating-Harbor Syndrome	Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic kidney disease,...	ORPHA:2044
Holoprosencephaly	Choanal atresia, Depressed nasal ridge, Spinal dysraphism, Anosmia, Aplasia/Hypoplasia involving ...	ORPHA:2162
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Macular hypoplasia, Leukocoria, Phthisis bu...	ORPHA:91495
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Galloway-Mowat Syndrome 1	Cataract, Hypoplasia of the iris, Intrauterine growth retardation, Micrognathia, Prominent nose, ...	OMIM:251300
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Joubert Syndrome 14	Prominent nasal bridge, Encephalocele, Malar flattening, Microphthalmia, Meningocele, Growth delay	OMIM:614424
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Cryptorchidism, Microphthalmia, Sclerocornea, Limbal dermoid	OMIM:613001
Frontonasal Dysplasia 3	Wide nasal bridge, Underdeveloped nasal alae, Microphthalmia	OMIM:613456
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Fanconi Anemia, Complementation Group F	Microphallus, Decreased response to growth hormone stimulation test, Intrauterine growth retardat...	OMIM:603467
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Retrognathia, Umbilical hernia, Postnatal growth retardation, Intrauterine gr...	ORPHA:96191
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Postnatal growth retardation, Intrauterine growth retardation, Promine...	ORPHA:251061
Kagami-Ogata Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Anteverted nares, Micrognathia, ...	OMIM:608149
Oculodentodigital Dysplasia	Cataract, Microcornea, Carious teeth, Underdeveloped nasal alae, Narrow nose, Narrow nasal bridge...	OMIM:164200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Mild short stature, Microphthalmia	OMIM:614833
2Q31.1 Microdeletion Syndrome	Bulbous nose, Micrognathia, Cryptorchidism, Microphthalmia, Short stature, Iris coloboma	ORPHA:251014
Microphthalmia, Syndromic 2	Bifid nasal tip, Iris coloboma, Broad nasal tip, Dental malocclusion, Delayed eruption of teeth, ...	OMIM:300166
Barber-Say Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Delayed eruption of teeth,...	OMIM:209885
Incontinentia Pigmenti	Cataract, Keratitis, Delayed eruption of teeth, Umbilical hernia, Abnormal dental enamel morpholo...	ORPHA:464
3Q29 Microdeletion Syndrome	Cataract, Prominent nasal bridge, Microphthalmia, Hypospadias, Short nose	ORPHA:65286
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Iris coloboma, Accessory spleen, Occipital encephalocel...	OMIM:249000
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Hyperplasia of the maxilla, Narrow naris, Postnatal growth retardation, Enl...	OMIM:268300
Distal Xq28 Microduplication Syndrome	Epistaxis, Hypoplasia of the maxilla, Broad nasal tip, Recurrent upper respiratory tract infectio...	ORPHA:293939
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Hypoplasia of the maxilla, Palmoplantar keratoderma, Bilateral choanal atresia...	OMIM:106260
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ...	ORPHA:958
Williams Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal insufficiency, Vesi...	ORPHA:904
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria	ORPHA:90041
Heart And Brain Malformation Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Microphthalmia, Growth delay	OMIM:616920
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Anteverted na...	OMIM:608156
Cockayne Syndrome	Lentiglobus, Carious teeth, Postnatal growth retardation, Cryptorchidism, Delayed eruption of pri...	ORPHA:191
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Microcornea, Micrognathia, Hypoplastic nipples, Microphthalmia	OMIM:156610
Renpenning Syndrome 1	Wide nasal bridge, Cataract, Mandibular prognathia, Decreased testicular size, Bulbous nose, Micr...	OMIM:309500
Myoclonic-Astatic Epilepsy	Thick nasal alae, Anteverted nares, Microphthalmia, Wide nasal bridge	ORPHA:1942
Myhre Syndrome	Cataract, Hypoplasia of the maxilla, Intrauterine growth retardation, Prominent nasal bridge, Cry...	OMIM:139210
Saethre-Chotzen Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Cryptorchidism, Convex...	ORPHA:794
Acrofrontofacionasal Dysostosis 1	Wide nasal bridge, Malar flattening, Iris atrophy, Microphthalmia, Short stature, Mandibular prog...	OMIM:201180
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Peg-shaped maxillary lateral incisors, Abnormalit...	ORPHA:199306
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Hypoplasia of the maxilla, Cataract, Microspherophakia, Ectopia lentis, U...	OMIM:608328
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Delayed eruption of teeth, Co...	ORPHA:87
Neu-Laxova Syndrome 1	Depressed nasal ridge, Hydranencephaly, Cataract, Stillbirth, Small placenta, Pterygium, Intraute...	OMIM:256520
Trichothiodystrophy	Microcornea, Carious teeth, Retrognathia, Bilateral microphthalmos, Gonadal dysgenesis, Umbilical...	ORPHA:33364
Microphthalmia/Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:615145
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the ma...	ORPHA:306542
Microphthalmia/Coloboma 12	Peters anomaly, Optic nerve aplasia, Corneal opacity, Microphthalmia, Growth delay	OMIM:120200
3Q29 Microduplication Syndrome	Wide nasal bridge, Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:251038
Developmental And Speech Delay Due To Sox5 Deficiency	Hyperplasia of the maxilla	ORPHA:313892
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Prominent nose, Micrognathia, Hyperplasia of the maxilla	OMIM:620194
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Pterygium, Dumbbell-shaped humerus, Micrognathia, F...	OMIM:211350
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Van Maldergem Syndrome 1	Wide nasal bridge, Hypoplasia of the maxilla, Growth delay, Dental malocclusion, Micrognathia, Ma...	OMIM:601390
Cerebrofacioarticular Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Micrognathia, S...	ORPHA:314679
Andersen Cardiodysrhythmic Periodic Paralysis	Hypoplasia of the maxilla, Bulbous nose, Persistence of primary teeth, Micrognathia, Malar flatte...	OMIM:170390
Arthrogryposis Multiplex Congenita 5	Medullary nephrocalcinosis	OMIM:618947
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Stevenson-Carey Syndrome	Prominent nasal tip, Anteverted nares, Underdeveloped nasal alae, Microphthalmia	OMIM:611961
Fryns Syndrome	Wide nasal bridge, Microretrognathia, Ectopic pancreatic tissue, Stillbirth, Bifid scrotum, Polys...	OMIM:229850
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Iris coloboma, Cataract, Ovarian carcinoma, Ovarian fibroma, Spina bifida, Mic...	OMIM:109400
Refsum Disease	Microphthalmia, Anosmia, Splenomegaly, Cataract	ORPHA:773
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Wide nasal bridge, Iris coloboma, Hydranencephaly, Microretrognathia, Hepatic sinusoidal dilatati...	OMIM:620371
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Avascular necrosis of the capital femoral epiphysis, Abnormal retinal vascular mor...	ORPHA:247691
Norrie Disease	Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Narrow nasal bridge, Abnormal ...	ORPHA:649
Alpha-Thalassemia	Cholelithiasis, Hyperplasia of the maxilla, Malar prominence, Hepatosplenomegaly, Hypersplenism, ...	ORPHA:846
Adams-Oliver Syndrome	Cataract, Portal hypertension, Encephalocele, Congenital hepatic fibrosis, Cirrhosis, Microphthalmia	ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Microphthalmia	OMIM:615249
Leprechaunism	Hypercalciuria, Nephrocalcinosis, Long penis, Enlarged kidney	ORPHA:508
Occipital Horn Syndrome	Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi...	ORPHA:198
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Retrognathia, Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Bile duct proliferation, Anencephaly	OMIM:611561
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Stillbirth, Intrauterine growth retardation, Microg...	OMIM:236680
Monosomy 9Q22.3	Cataract, Delayed eruption of teeth, Umbilical hernia, Ovarian fibroma, Microphthalmia, Short nose	ORPHA:77301
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Cryptorchidism, Posterior embryotoxon, Microphthalmia, Hypoparathyro...	ORPHA:567
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Carious teeth, Elevated circulating hepatic transaminase conc...	ORPHA:90324
Witteveen-Kolk Syndrome	Flared nostrils, Male urethral meatus stenosis, Hyperplasia of the maxilla, Microphthalmia, Hypos...	OMIM:613406
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Choanal stenosis, Mandibular ...	OMIM:101600
Orofaciodigital Syndrome Ii	Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Depressed nasal bridge, Micrognathia...	OMIM:252100
Charge Syndrome	Choanal atresia, Anosmia, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Bifid scrotum...	ORPHA:138
Monosomy 9P	Choanal atresia, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Malar fl...	ORPHA:261112
Fanconi Anemia, Complementation Group A	Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia, Short stature, Male infertility	OMIM:227650
Mend Syndrome	Cataract, Microretrognathia, Bulbous nose, Micrognathia, Prominent nasal bridge, Cryptorchidism, ...	OMIM:300960
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,...	OMIM:164745
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Anteverted nares	ORPHA:228396
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal artery stenosis, Ve...	OMIM:194050
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Hypoplasia of the maxilla, Supernumerary nipple, Decreased response to growth ...	OMIM:213980
Andersen-Tawil Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Persistence of primary teeth, Microgn...	ORPHA:37553
Cat Eye Syndrome	Umbilical hernia, Micrognathia, Biliary atresia, Microphthalmia, Short stature, Iris coloboma	OMIM:115470
Rubinstein-Taybi Syndrome 1	Postnatal growth retardation, Micrognathia, Cryptorchidism, Hypospadias, Cataract, Hypoplasia of ...	OMIM:180849
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Choanal atresia, Depressed nasal ridge, Bilateral microphthalmos, Ethmoidal encephalocele, Optic ...	OMIM:607597
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Deafness, X-Linked 7	Wide nasal bridge, Unilateral microphthalmos	OMIM:301018
Floating-Harbor Syndrome	Nephrocalcinosis, Glandular hypospadias, Hydronephrosis, Hypospadias, Congenital posterior urethr...	OMIM:136140
Oculo-Palato-Cerebral Syndrome	Cataract, Intrauterine growth retardation, Leukocoria, Microphthalmia, Short stature	ORPHA:2714
Cardioacrofacial Dysplasia 1	Overhanging nasal tip, Hypoplasia of the maxilla	OMIM:619142
Medullary Thyroid Carcinoma	Nodular goiter, Pheochromocytoma, Abnormal liver parenchyma morphology, Primary hyperparathyroidism	ORPHA:1332
Meier-Gorlin Syndrome 1	Clitoral hypertrophy, Hypoplasia of the maxilla, Breast hypoplasia, Intrauterine growth retardati...	OMIM:224690
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Encephalocele, Cryptorch...	ORPHA:2052
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Broad nasal tip, Decreased response to...	OMIM:129900
Fanconi Anemia, Complementation Group E	Short stature, Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia	OMIM:600901
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Wide nasal bridge, Iris coloboma, Mandibular prognathia, Microretrognathia, Exocrine pancreatic i...	ORPHA:508498
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Underdeveloped nasal alae, Cleft mandible, Bulbous nose, Intrauterine growth retardation, Microgn...	OMIM:608670
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Wide nasal bridge, Microretrognathia, Retrognathia, Microphallus, Bilateral...	ORPHA:468631
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Cryptorchidism, Microphthalmia, Short stature, Hypergonadotropic...	OMIM:227645
Focal Dermal Hypoplasia	Ectopia lentis, Umbilical hernia, Abnormal dental enamel morphology, Hypoplasia of the iris, Narr...	ORPHA:2092
Momo Syndrome	Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Bilateral microphthalmos, Taurod...	ORPHA:2563
Oculopalatocerebral Syndrome	Short stature, Leukocoria, Microphthalmia	OMIM:257910
Cutis Laxa, Autosomal Recessive, Type Iic	Micropenis, Nephrocalcinosis	OMIM:617402
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Breast aplasia, Anteverted nares, Keratoconjunctivitis sicca, Sinusiti...	ORPHA:238468
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Decreased response to growth hormone s...	OMIM:604292
Nager Syndrome	Hypoplasia of the maxilla, Micrognathia, Abnormal nasal morphology, Hypoplasia of the zygomatic bone	ORPHA:245
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Delayed eruption of teeth, Peripheral opacification of the cornea, Bul...	OMIM:259600
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Bulbous nose, Hypoplasia of the maxilla, Anteverted nares	ORPHA:481152
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Microphthalmia	OMIM:614402
Yunis-Varon Syndrome	Cataract, Clitoral hypertrophy, Bilateral microphthalmos, Postnatal growth retardation, Anteverte...	ORPHA:3472
Branchiooculofacial Syndrome	Depressed nasal bridge, Iris coloboma, Broad nasal tip, Cataract, Supernumerary nipple, Postnatal...	OMIM:113620
Holoprosencephaly 2	Anterior pituitary agenesis, Proboscis, Malar flattening, Aplasia of the nasal bone, Aplasia of t...	OMIM:157170
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Corneal scarring, Cryptorchidism, Dense posterior cortical cataract...	OMIM:309000
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Greenberg Dysplasia	Depressed nasal ridge, Rhizomelia, Hypoplasia of the maxilla, Disproportionate short-limb short s...	OMIM:215140
Joubert Syndrome 2	Depressed nasal bridge, Hypoplastic male external genitalia, Encephalocele, Microphthalmia	OMIM:608091
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Sclerocornea, Microphthalmia, Delayed eruption of primary teeth	OMIM:300952
Pseudotrisomy 13 Syndrome	Encephalocele, Cryptorchidism, Microphthalmia, Micropenis, Bicornuate uterus	OMIM:264480
Fraser Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Clitoral hypertrophy, Dental malocclusion, Underdevelo...	OMIM:219000
Galloway-Mowat Syndrome 3	Short stature, Intrauterine growth retardation, Micrognathia, Microphthalmia	OMIM:617729
Shprintzen-Goldberg Craniosynostosis Syndrome	Hypoplasia of the maxilla, Dental malocclusion, Umbilical hernia, Anteverted nares, Micrognathia,...	OMIM:182212
Shprintzen-Goldberg Syndrome	Hypoplasia of the maxilla, Retrognathia, Umbilical hernia, Anteverted nares, Micrognathia, Crypto...	ORPHA:2462
Fontaine Progeroid Syndrome	Small scrotum, Depressed nasal bridge, Absent nipple, Retrognathia, Umbilical hernia, Intrauterin...	OMIM:612289
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Doors Syndrome	Hydronephrosis, Nephrocalcinosis, Abnormality of the urinary system, Increased urine alpha-ketogl...	ORPHA:79500
Atelis Syndrome 2	Bulbous nose, Prominent nose, Micrognathia, Developmental cataract, Microphthalmia	OMIM:620185
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Unilateral microphthalmos, Splenomegaly	OMIM:615085
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib...	OMIM:200980
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Megalocornea, Bulbous nose, Prominent nasal bridge,...	OMIM:609460
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Distal Deletion 19P	Hypoplasia of the maxilla, Vaginal hernia, Umbilical hernia	ORPHA:96129
Pallister-Hall Syndrome	Small scrotum, Natal tooth, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Microphthalmia, Hy...	ORPHA:672
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj...	OMIM:278730
Sarcoidosis	Nephrocalcinosis, Renal insufficiency, Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephritis	ORPHA:797
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Blue irides	OMIM:105830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Encephalocele, Microphthalmia, Buphthalmos, Persistent pupillary membrane	OMIM:613150
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Focal Dermal Hypoplasia	Broad nasal tip, Dental malocclusion, Delayed eruption of teeth, Ectopia lentis, Umbilical hernia...	OMIM:305600
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Microphthalmia	OMIM:619053
Duane-Radial Ray Syndrome	Choanal atresia, Cataract, Optic disc hypoplasia, Abnormal nasopharynx morphology, Choanal stenos...	OMIM:607323
Mowat-Wilson Syndrome	Wide nasal bridge, Iris coloboma, Microcornea, Cataract, Delayed eruption of teeth, Bifid scrotum...	OMIM:235730
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma, Mandibular prognathia, Supernumerary nipple	ORPHA:1236
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Severe short stature, Rhizomelia, Ectopia pupillae, Microphthalmia, Corneal opacity, Lens subluxa...	ORPHA:85167
Lymphedema-Distichiasis Syndrome	Micrognathia, Recurrent corneal erosions, Microphthalmia, Conjunctivitis, Corneal ulceration	OMIM:153400
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Campomelic Dysplasia	Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ...	ORPHA:140
Charge Syndrome	Postnatal growth retardation, Unilateral microphthalmos, Micrognathia, Cryptorchidism, Anophthalm...	OMIM:214800
Degcags Syndrome	Retrognathia, Cholestasis, Intrauterine growth retardation, Micrognathia, Prominent nose, Cryptor...	OMIM:619488
Branchioskeletogenital Syndrome	Depressed nasal bridge, Absent external genitalia, Carious teeth, Hypoplasia of the maxilla, Broa...	ORPHA:1299
Peters-Plus Syndrome	Postnatal growth retardation, Micrognathia, Cryptorchidism, Hypoplastic labia majora, Hypoplasia ...	OMIM:261540
Geroderma Osteodysplasticum	Severe short stature, Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening	OMIM:231070
Fanconi Anemia, Complementation Group D2	Annular pancreas, Cryptorchidism, Micropenis, Microphthalmia, Short stature, Hypergonadotropic hy...	OMIM:227646
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Nephrocalcinosis, Medullary nephrocalcinosis, Cortical nephrocalcinosis	ORPHA:51608
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Microphthalmia	OMIM:616538
Papillorenal Syndrome	Short stature, Cataract, Lens luxation, Microphthalmia	OMIM:120330
Fraser Syndrome 2	Underdeveloped nasal alae, Hypoplasia of the thymus, Ambiguous genitalia, Microphthalmia, Wide nose	OMIM:617666
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Curry-Jones Syndrome	Iris coloboma, Microphthalmia	ORPHA:1553
Von Hippel-Lindau Syndrome	Pheochromocytoma, Hepatic hemangioma, Epididymal cyst, Pancreatic cysts, Neoplasm of the pancreas...	OMIM:193300
Histiocytoid Cardiomyopathy	Megalocornea, Microphthalmia, Polycystic ovaries, Corneal opacity, Congenital aphakia, Hepatomegaly	ORPHA:137675
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Anophthalmia, Perineal fistula, Microphthalmia, Hepatomegaly, Rectovag...	ORPHA:2538
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Optic disc hypoplasia, Postnatal growth retardation, Microphthalmia, Iris ...	ORPHA:959
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal mandible condylar process morphology, Prominent nose, Abnormal ethmoid bone morphology, ...	ORPHA:2976
Mycophenolate Mofetil Embryopathy	Bifid nose, Micrognathia, Iris coloboma, Microphthalmia	ORPHA:268249
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Van Den Ende-Gupta Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Underdeveloped nasal alae, Narrow nose, Microg...	OMIM:600920
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Treacher Collins Syndrome 1	Choanal atresia, Bilateral microphthalmos, Micrognathia, Malar flattening, Cryptorchidism, Abnorm...	OMIM:154500
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ...	OMIM:218330
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Cornelia De Lange Syndrome	Choanal atresia, Depressed nasal bridge, Cataract, Microcornea, Delayed eruption of teeth, Abnorm...	ORPHA:199
Trichorhinophalangeal Syndrome, Type Ii	Wide nasal bridge, Recurrent upper respiratory tract infections, Carious teeth, Mandibular progna...	OMIM:150230
Teebi-Shaltout Syndrome	Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Microphthalmia, Short stature	OMIM:272950
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Retrognathia, Umbilical hernia, Microphthalmia, Hypoplasia...	OMIM:619539
Liver Disease, Severe Congenital	Portal inflammation, Micrognathia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly...	OMIM:619991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Megalocornea, Micrognathia, Malar flattening, Hypoplasia of the retina, Microphthalmia,...	OMIM:253280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Encephalocele, Microphthalmia	OMIM:253800
Stickler Syndrome	Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Microretrognathia, Cata...	ORPHA:828
Kenny-Caffey Syndrome, Type 2	Severe short stature, Hypoparathyroidism, Developmental cataract, Microphthalmia	OMIM:127000
Microphthalmia, Syndromic 6	Small scrotum, Microcornea, Retrognathia, Micrognathia, Cryptorchidism, Anophthalmia, Microphthal...	OMIM:607932
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Oculotrichoanal Syndrome	Bifid nasal tip, Anophthalmia, Microphthalmia	ORPHA:2717
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Severe short stature, Cataract, Wide nasal bridge, Anteverted nares, Anophthalmia, Microphthalmia...	ORPHA:2526
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma, Growth delay, Adenoma sebaceum	ORPHA:2612
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Hyperechogenic kidneys, Medullary nephrocalcinosis, Dark urine, R...	OMIM:619534
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Depressed nasal bridge, Cataract, Bulbous nose, Prominent nose, Micrognathia, Anteverted nares, P...	OMIM:612474
Phace Association	Microphthalmia, Optic nerve hypoplasia, Developmental cataract, Lingual thyroid	OMIM:606519
Steinfeld Syndrome	Iris coloboma, Aplasia of the nose, Absent gallbladder, Microphthalmia	OMIM:184705
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Narrow nose, Malar flattening, Buphthalmos, Cleft of chin, Convex nasa...	OMIM:101400
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Microphthalmia	OMIM:610832
Townes-Brocks Syndrome	Iris coloboma, Cataract, Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Li...	ORPHA:857
Phace Syndrome	Cataract, Optic nerve hypoplasia, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens colobo...	ORPHA:42775
Holoprosencephaly 1	Proboscis, Micropenis, Microphthalmia, Short stature, Aplasia of the nose	OMIM:236100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Hypoplasia of the maxilla, Absent nipple, Underdeveloped nasal alae, Taur...	OMIM:305100
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Osteoporosis-Pseudoglioma Syndrome	Cataract, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia, Short...	OMIM:259770
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Ectopia pupillae, Cryptorchidism, Axenfeld anomaly, Chordee, Microphthalmia, Iris coloboma, Hypos...	ORPHA:261552
Zttk Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Intrauterine growth retarda...	OMIM:617140
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Retrognathia, Bilateral choan...	OMIM:616462
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Depressed nasal bridge, Cataract, Disproportionate short-limb short stature, Uterus didelphys, Mi...	ORPHA:93271
Mowat-Wilson Syndrome	Cryptorchidism, Axenfeld anomaly, Chordee, Prominent nasal tip, Microphthalmia, Iris coloboma, Hy...	ORPHA:2152
Primrose Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Posterior ...	OMIM:259050
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cryptorchidism, Axenfeld anomaly, Chordee, Microphthalmia, Iris coloboma, Hypospadias, Cataract, ...	ORPHA:261537
Curry-Jones Syndrome	Iris coloboma, Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Agenesis of molar, Agenesis of lateral incisor	OMIM:313500
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Faciocardiomelic Syndrome	Depressed nasal bridge, Dental malocclusion, Hyperplasia of the maxilla, Anteverted nares, Microg...	OMIM:612731
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Increased axial length of the globe, Hyperplasia of the maxilla, Antevert...	ORPHA:513456
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Iris coloboma, Aplasia of the nose, Absent gallbladder, Microphthalmia	ORPHA:3186
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Adrenal pheochromocytoma, Epididymal cyst, Pancreatic cysts, Neopl...	ORPHA:892
Pmm2-Cdg	Cataract, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Retrognathia...	ORPHA:79318
Craniosynostosis And Dental Anomalies	Depressed nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth...	OMIM:614188
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
8Q24.3 Microdeletion Syndrome	Wide nasal bridge, Ectopic posterior pituitary, Infancy onset short-trunk short stature, Microret...	ORPHA:508488
Microphthalmia, Syndromic 1	Iris coloboma, Microcornea, Growth delay, Ciliary body coloboma, Cryptorchidism, Anophthalmia, Ag...	OMIM:309800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Intrauterine growth retarda...	ORPHA:500150
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P...	OMIM:175780
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Encephalocele, Supernumerary nipple	OMIM:100300
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Occipital encephalocele, Micrognathia, Branchial anomaly, Malar flatte...	OMIM:164210
Singleton-Merten Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Short s...	OMIM:182250
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Disproportionate short-trunk short stature	OMIM:300106
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Intrauterine growth retardation, Anteverted n...	OMIM:620568
Nut Midline Carcinoma	Pancreatoblastoma, Pancreatic squamous cell carcinoma	ORPHA:443167

Histopathology

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

There is no histopathology data for Brd4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Brd4.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.	Development (Cambridge, England) (January 2024)	Brd4^{tm1c(EUCOMM)Wtsi}	PMC10905746
BET proteins are essential for the specification and maintenance of the epiblast lineage in mouse preimplantation embryos.	BMC biology (March 2022)	Brd4^{tm1a(EUCOMM)Wtsi}	PMC8905768
Bromodomain Protein BRD4 Is Essential for Hair Cell Function and Survival.	Frontiers in cell and developmental biology (September 2020)	Brd4^{tm1a(EUCOMM)Wtsi}	PMC7509448
AMP-activated protein kinase links acetyl-CoA homeostasis to BRD4 recruitment in acute myeloid leukemia.	Blood (December 2019)	Brd4^{tm1c(EUCOMM)Wtsi}	31697807
Time series modeling of cell cycle exit identifies Brd4 dependent regulation of cerebellar neurogenesis.	Nature communications (July 2019)	Brd4^{tm1a(EUCOMM)Wtsi}	PMC6620341
Brd4 binds to active enhancers to control cell identity gene induction in adipogenesis and myogenesis.	Nature communications (December 2017)	Brd4^{tm1c(EUCOMM)Wtsi} Brd4^{tm1a(EUCOMM)Wtsi} Brd4^{tm1b(EUCOMM)Wtsi}	PMC5738375

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MGI Allele	Allele Type	Produced
Brd4^{tm48673(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Brd4^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Brd4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Brd4 MGI:1888520

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IMPC related publications

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