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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
decreased total retina thickness	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.71×10^-22
abnormal retina inner nuclear layer morphology	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.13×10^-07
short tibia	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.23×10^-06
decreased prepulse inhibition	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	7.35×10^-15
preweaning lethality, complete penetrance	Brd4^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased grip strength	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.39×10^-06
abnormal cranium morphology	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	9.11×10^-06
abnormal retina outer nuclear layer morphology	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.30×10^-38
abnormal eye posterior chamber depth	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.14×10^-05
abnormal retina blood vessel morphology	Brd4^{tm1b(EUCOMM)Wtsi}	HET	Early adult	3.32×10^-05
embryonic lethality prior to organogenesis	Brd4^{tm1b(EUCOMM)Wtsi}	HOM	E9.5	0.00

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 (2 diseases)
Human diseases predicted to be associated with Brd4 (829 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cornelia De Lange Syndrome		Delayed eruption of teeth, Hypoplasia of penis, Cataract, Hypospadias, Short stature, Choanal atr...	ORPHA:199
Nut Midline Carcinoma		Pancreatic squamous cell carcinoma, Pancreatoblastoma	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	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Blue Diaper Syndrome	Nephrocalcinosis	OMIM:211000
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Hypercalcemia, Infantile, 2	Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:616963
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Short stature, Growth delay, Microcornea, Hypogonadism, Microphthalmia, Retrognathia	ORPHA:2528
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:143880
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria	OMIM:239199
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury	ORPHA:33111
Renal Tubular Acidosis Iii	Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Paget Disease Of Bone 6	Nephrocalcinosis	OMIM:616833
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting	ORPHA:564178
Microphthalmia, Syndromic 12	Anophthalmia, Micrognathia, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Bicornuate uterus...	OMIM:615524
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Cofs Syndrome	Cataract, Short stature, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Hypogonadism...	ORPHA:1466
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Cataract	OMIM:274205
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Distal renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis	OMIM:179800
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Cataract, Micrognathia, Prominent nose, Developmental cataract, Growth delay, Micr...	OMIM:610756
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Spastic Paraparesis And Deafness	Cataract, Hypogonadism, Short stature	OMIM:312910
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Mmep Syndrome	Microphthalmia, Cryptorchidism, Mandibular prognathia	ORPHA:3434
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria	OMIM:602722
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Short stature, Micrognathia, Prominent nose, Microcornea, Microphthalmia, Intrauterine ...	OMIM:616171
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Hypogonadotropic hypogonadism, Short stature, Malar prominence, Micrognathia, Microcorn...	ORPHA:48431
Warburg Micro Syndrome 1	Short stature, External genital hypoplasia, Anteverted nares, Micrognathia, Cryptorchidism, Wide ...	OMIM:600118
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting	OMIM:618314
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim...	ORPHA:2975
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Prominence of the premaxilla, Short stature, Prominent nose, Wide ...	OMIM:614886
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation, Micrognathia	OMIM:616570
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity, Hepatomegaly	ORPHA:2432
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia	ORPHA:99879
Wagr Syndrome	Cataract, Short stature, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous ...	ORPHA:893
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis	OMIM:615633
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:601198
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Polyuria	OMIM:620152
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Jaundice,...	ORPHA:93111
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism, Mandibular prognathia, Microcornea	OMIM:601349
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Distal renal tubular acidosis, Nephrocalcinosis	OMIM:611590
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Cryptorchidism, Neonatal death, Microphthalmia	OMIM:613730
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine	ORPHA:94086
Biemond Syndrome Type 2	Short stature, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microph...	ORPHA:141333
Pierpont Syndrome	Wide nose, Short stature, Broad nasal tip, Cryptorchidism, Microcornea, Microphthalmia, Micropeni...	OMIM:602342
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Rhizomelia, Micrognathia, Wide nasal bridge, Ambiguous genitalia, Microphthalmia	ORPHA:93267
Wilson-Turner Syndrome	Cataract, Hypogonadotropic hypogonadism, Short stature, Malar prominence, Micrognathia, Cryptorch...	ORPHA:3459
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Otodental Syndrome	Delayed eruption of teeth, Cataract, Anteverted nares, Abnormal dental enamel morphology, Abnorma...	ORPHA:2791
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Decreased testicular size	ORPHA:93950
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Malar f...	ORPHA:2412
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis	OMIM:146200
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Short stature, Hypoplasia of the premaxilla, Corneal dystrophy, Prominent ...	ORPHA:2673
Seckel Syndrome 2	Hypospadias, Short stature, Micrognathia, Prominent nose, Growth delay, Microphthalmia	OMIM:606744
Congenital Varicella Syndrome	Microphthalmia, Cataract, Intrauterine growth retardation	ORPHA:291
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Astigmatism, Advanced eruption of teeth, Sh...	OMIM:614753
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Microphthalmia	ORPHA:363741
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius,...	OMIM:607143
Holoprosencephaly 9	Anophthalmia, Short stature, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Depressed nasa...	OMIM:610829
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism, Cataract, Intrauterine growth retardation	ORPHA:2489
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Warburg Micro Syndrome 3	Small scrotum, Cataract, Micrognathia, Postnatal growth retardation, Hypoplastic labia minora, De...	OMIM:614222
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Bresek Syndrome	Optic nerve hypoplasia, Convex nasal ridge, Cryptorchidism, Growth delay, Neonatal death, Microph...	ORPHA:85284
Familial Median Cleft Of The Upper And Lower Lips	Abnormal maxilla morphology, Abnormal mandible morphology	ORPHA:401942
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy	OMIM:613404
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea, Ambiguous genitalia, Cl...	OMIM:264270
Microvillus Inclusion Disease	Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia, Cataract	OMIM:278780
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism, Decreased testi...	ORPHA:85279
Warburg Micro Syndrome 4	Small scrotum, Short stature, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Developme...	OMIM:615663
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Micro Syndrome	Hypoplasia of penis, Cataract, Short stature, Anteverted nares, Micrognathia, Cryptorchidism, Hyp...	ORPHA:2510
Frontonasal Dysplasia 1	Cataract, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic frontal sinuse...	OMIM:136760
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Pierpont Syndrome	Wide nasal ridge, Cryptorchidism, Microcornea, Microphthalmia, Malar flattening	ORPHA:487825
Recon Progeroid Syndrome	Prominence of the premaxilla, Short stature, Anteverted nares, Narrow nasal ridge, Prominent nasa...	OMIM:620370
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Femoral b...	OMIM:608940
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Anteverted nares, Choanal atresia, Micrognathia, Postnatal growth retardation, Crypt...	ORPHA:494344
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Micrognathia, Cryp...	ORPHA:2166
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis	OMIM:617105
Warburg Micro Syndrome 2	Small scrotum, Cataract, Prominent nasal bridge, Postnatal growth retardation, Cryptorchidism, De...	OMIM:614225
3Mc Syndrome 2	Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Postnatal growth retardation, ...	OMIM:265050
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis	OMIM:611087
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis	ORPHA:500533
Axenfeld-Rieger Syndrome	Posterior embryotoxon, Hypospadias, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal...	ORPHA:782
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia, Cataract, Abnormality iris morphology	ORPHA:1617
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Joubert Syndrome 37	Hepatomegaly, Wide nose, Short stature, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micr...	OMIM:619185
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Trichothiodystrophy 3, Photosensitive	Natal tooth, Cataract, Short stature, Bilateral cryptorchidism, Carious teeth, Developmental cata...	OMIM:616395
Baraitser-Winter Syndrome 1	Short stature, Anteverted nares, Postnatal growth retardation, Cryptorchidism, Wide nasal bridge,...	OMIM:243310
Lowry-Maclean Syndrome	Short nasal bridge, Hypospadias, Corneal opacity, Delayed eruption of primary teeth, Micrognathia...	ORPHA:2409
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Wide nose, Cataract, Hypergonadotropic hypogonadism, Short stature, Decreased response to growth ...	ORPHA:280679
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Cataract, Hypoplasia of the nasal bone, Moderate postnatal growth r...	OMIM:118650
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Short stature, Micrognathia, Cryptorchidism, Microcornea, Umbilical h...	ORPHA:2505
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Cataract, Hypogonadism	OMIM:601794
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor...	OMIM:208085
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx...	OMIM:601559
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Medullary nephrocalcinosis, Polyuria	OMIM:300971
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Small scrotum, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae...	ORPHA:228390
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Cataract, Anteverted nares, Micrognathia, Astigmatism, Microphthalmia	OMIM:619694
Nance-Horan Syndrome	Mandibular prognathia, Cataract, Prominent nasal bridge, Prominent nose, Supernumerary tooth, Mic...	ORPHA:627
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ...	OMIM:211900
Apparent Mineralocorticoid Excess	Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Renal sodium wasting	ORPHA:320
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Short stature, Optic nerve hypoplasia, Cataract, Crypt...	OMIM:610125
Triploidy	Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Micrognathia, Cryptorchidism, Abnormali...	ORPHA:3376
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal nostril morphology, Abnormal external genitalia	ORPHA:3469
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Narrow nasal bridge, Cataract, Short stature, Convex nasal ridge, Malar flattening, Overhanging n...	ORPHA:85172
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Hypospadias, Exocrine pancreatic insufficiency, Biliary tract abno...	OMIM:137920
Laurence-Moon Syndrome	Hypoplasia of penis, Cataract, Short stature, Cryptorchidism, Congenital hepatic fibrosis, Displa...	ORPHA:2377
Oculocerebrocutaneous Syndrome	Anophthalmia, Cleft ala nasi, Cryptorchidism, Orbital encephalocele, Microphthalmia	OMIM:164180
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:616428
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib...	ORPHA:83451
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Short stature, Iris coloboma	OMIM:300915
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis, Short nose, Micrognathia	ORPHA:2547
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci...	ORPHA:2088
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ...	ORPHA:356961
Martsolf Syndrome 2	Cataract, Hypogonadotropic hypogonadism, Short stature, Broad nasal tip, Developmental cataract	OMIM:619420
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Short stature, Hypogonadotropic hypogonadism, Depressed nasal bridge, Micrognathia, Cry...	ORPHA:1387
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Postnatal growth retardation, Cryptorchidism, Hypoplasia of teeth, Microphthalmia,...	ORPHA:2728
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Short stature, Corneal opacity, Splenomegaly, Jaundice, Aplasia/Hypoplasi...	ORPHA:290
Frontofacionasal Dysplasia	Encephalocele, Cataract, Short stature, Depressed nasal bridge, Choanal atresia, Brushfield spots...	ORPHA:1791
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Short stature, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level...	ORPHA:2410
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Cataract, Corneal opacity, Hypoplasia of the maxilla, Bilateral microphthalmos, Recurr...	ORPHA:2399
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Micrognathia, Depressed nasal ridge, Hyperkeratosis, Microphthalmia, S...	ORPHA:163966
Hypophosphatasia, Infantile	Nephrocalcinosis, Elevated urine pyrophosphate, Phosphoethanolaminuria, Hypercalciuria	OMIM:241500
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Cataract, Prominent nasal bridge, Micrognathia, Carious teeth, Cryptor...	OMIM:214150
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Micrognathia, Post...	OMIM:241410
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypercalciuria, Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis	ORPHA:157215
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short stature, Broad nasal tip	ORPHA:2776
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Depressed nasal ridge, Ambiguous genitalia,...	OMIM:613885
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Wide nasal bridge,...	OMIM:601499
Cystic Fibrosis	Elevated hepatic transaminase, Sinusitis, Nasal polyposis, Absent vas deferens, Abnormality of th...	ORPHA:586
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short stature, Anteverted nares, Hypoplasia of the maxilla, Cryptorchi...	ORPHA:915
Oculoskeletodental Syndrome	Nephrocalcinosis	ORPHA:557003
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Cryptorchidism	ORPHA:1381
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Aicardi Syndrome	Prominence of the premaxilla, Cataract, Anteverted nares, Spina bifida, Precocious puberty, Postn...	OMIM:304050
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Cataract, Corneal opacity, Anteverted nares, Depressed nasal bridge, Broad...	OMIM:152950
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Short stature, Anteverted nares, Depressed nasa...	ORPHA:950
Cat-Eye Syndrome	Microphthalmia, Short stature, Iris coloboma, Intrauterine growth retardation	ORPHA:195
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Cataract, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla,...	OMIM:620157
Trisomy 13	Anophthalmia, Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Microphthalmia, Displacem...	ORPHA:3378
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, External genital hypop...	ORPHA:2250
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Short stature, Underdeveloped nasal alae, Dental malocclusion, Malar flattening	OMIM:616108
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cataract, Cryptorchidism, Disproportionate short-limb short stature, Ambiguo...	ORPHA:2772
Fanconi Anemia, Complementation Group S	Short stature, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Dental malocc...	OMIM:617883
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Depressed nasal bridge, Short stature, Anosmia, Hypogonadism, Short nose, Short nasal s...	OMIM:302950
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit...	ORPHA:1135
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Cataract, Short stature, Micrognathia, Hypoplasia of the maxilla, Long...	OMIM:257850
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Postn...	OMIM:614732
Hydrolethalus	Anophthalmia, Micrognathia, Cryptorchidism, Anencephaly, Abnormality of the sense of smell, Abnor...	ORPHA:2189
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Short stature, Abnormal dental enamel morphology, Cornea...	ORPHA:2323
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis	OMIM:614473
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma	ORPHA:1473
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Wide nose, Sclerocornea, Micrognathia, Underdevel...	ORPHA:284160
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Fibular hypoplasia, Lateral humeral condyle aplasia, Opacification of ...	OMIM:164900
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Cataract, Short stature, Corneal dystrophy, Sclerocornea, Microcornea, Hyper...	ORPHA:1806
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Developmental cataract, Microcornea, Mulberry molar, Post...	OMIM:302350
Temtamy Syndrome	Microphthalmia, Convex nasal ridge, Iris coloboma, Micrognathia	ORPHA:1777
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Microphthalmia With Limb Anomalies	Anophthalmia, Unilateral cryptorchidism, Depressed nasal bridge, Postnatal growth retardation, Fl...	OMIM:206920
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Renal Agenesis	Absent vas deferens, Aplasia/hypoplasia of the uterus	ORPHA:411709
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ...	ORPHA:1248
Kapur-Toriello Syndrome	Cataract, Cryptorchidism, Bulbous nose, Low hanging columella, Hypoplastic labia majora, Micropht...	OMIM:244300
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nasal tip, Hypospadias, Abnormal dental enamel morphology, Depre...	ORPHA:439822
Marshall-Smith Syndrome	Microretrognathia, Prominence of the premaxilla, Short stature, Optic nerve hypoplasia, Choanal a...	OMIM:602535
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma	ORPHA:139471
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Cryptorch...	ORPHA:496790
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Occipital encephalocele, Developmental cataract	ORPHA:324416
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Microphthalmia, Intrauterine growth retard...	ORPHA:858
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Short stature, Convex nasal ridge	OMIM:156510
Ritscher-Schinzel Syndrome 3	Anteverted nares, Micrognathia, Postnatal growth retardation, Cryptorchidism, Microphthalmia	OMIM:619135
Oculogastrointestinal Neurodevelopmental Syndrome	Short stature, Bilateral microphthalmos, Unilateral microphthalmos, Vaginal fistula, Low hanging ...	OMIM:619318
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly...	OMIM:603671
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Sandestig-Stefanova Syndrome	Wide nasal bridge, Developmental cataract, Microphthalmia, Retrognathia, Convex nasal ridge, Intr...	OMIM:618804
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Growth delay, Micro...	ORPHA:77298
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Aplasia/Hypoplasia involving the nose, Micrognathia, Cryptorchid...	ORPHA:3301
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract, Short stature	OMIM:251270
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Decreased fertility, Hypoplasia of teeth, Growth delay, Microcornea, Keratoconj...	OMIM:234050
Holoprosencephaly 7	Occipital meningocele, Hypoplasia of the premaxilla, Flat nasal alae, Bilateral microphthalmos, A...	OMIM:610828
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Vaginal hernia, Convex nasal ridge, Micrognathia	ORPHA:3173
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Silver-Russell Syndrome 3	Short stature, Unilateral cryptorchidism, Postnatal growth retardation, Antecubital pterygium, Am...	OMIM:616489
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu...	ORPHA:2751
Nanophthalmos	Microphthalmia	ORPHA:35612
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Severe short stature, Cataract, Micrognathia, Cryptorchidism, Wide nasal...	OMIM:224410
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Wide nasal bridge, Malar flatte...	ORPHA:261295
Lesch-Nyhan Syndrome	Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria	OMIM:300322
Meier-Gorlin Syndrome 4	Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r...	OMIM:613804
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Cataract, Hypergonadotropic hypogonadism, Short stature, Decreased response to growth ...	OMIM:300845
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short stature	ORPHA:93945
Ruijs-Aalfs Syndrome	Cataract, Short stature, Prominent nasal bridge, Micrognathia, Posterior subcapsular cataract, Bu...	OMIM:616200
Kniest Dysplasia	Retinal detachment, Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Delayed epi...	OMIM:156550
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte...	OMIM:263520
Martsolf Syndrome 1	Cataract, Hypogonadotropic hypogonadism, Short stature, Depressed nasal bridge, Micrognathia, Hyp...	OMIM:212720
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Micrognathia, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridg...	OMIM:614230
Marden-Walker Syndrome	Hypospadias, Anteverted nares, Micrognathia, Postnatal growth retardation, Cryptorchidism, Microp...	OMIM:248700
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Subaortic Stenosis-Short Stature Syndrome	Anteverted nares, Short stature, Micrognathia, Biliary tract abnormality, Microphthalmia	ORPHA:3191
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Short stature, Micrognathia, Microcornea, Iris transillumination defect, Microphthalmia	OMIM:617306
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn...	ORPHA:2470
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Elevated circulating alanine aminotransferase concentration, Microphthalm...	OMIM:618805
Hypogonadism-Cataract Syndrome	Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal...	OMIM:240950
Metaphyseal Chondrodysplasia, Jansen Type	Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria	OMIM:156400
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Microphthalmia, Prominent nasal bridge, Peters anomaly	OMIM:618652
Short Stature-Micrognathia Syndrome	Small scrotum, Short stature, Rhizomelia, Cataract, Micrognathia, Cryptorchidism, Astigmatism, In...	OMIM:617164
Temtamy Syndrome	Convex nasal ridge, Lens luxation, Micrognathia, Ectopia lentis, Hypoplasia of teeth, Microphthal...	OMIM:218340
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia, Micropenis	OMIM:308350
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Short stature, Bifid nasal tip, Unilateral microphthalmos, Macroorchidism, Malar fla...	OMIM:618874
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Wide nose, Cataract, Prominent nasal bridge, Ectopia lentis, Prominent nose, Dental...	OMIM:601552
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Short metacarpal, Cataract, Epiphyseal dysplasia, Sandal gap, Abnormal pelvis...	ORPHA:1427
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress...	ORPHA:1529
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Short stature, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Bilat...	ORPHA:369891
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Hypoplasia of penis, Cataract, Short stature, Micrognathia, Cryptorchidism, Dental...	ORPHA:85321
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation, Wide nasal bridge, Micrognathia	ORPHA:1438
Aicardi Syndrome	Prominence of the premaxilla, Precocious puberty, Delayed puberty, Hepatoblastoma, Microphthalmia	ORPHA:50
Lujan-Fryns Syndrome	Macroorchidism, Hypoplasia of the maxilla, Prominent nasal bridge, Micrognathia	ORPHA:776
Mosaic Trisomy 9	Hypoplasia of penis, Corneal opacity, Spina bifida, Micrognathia, Asplenia, Cryptorchidism, Bulbo...	ORPHA:99776
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Moebius Syndrome	Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Depressed nasal bridge, Micrognat...	OMIM:157900
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur...	OMIM:101800
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Underdeveloped nasal alae, Cryptorchi...	ORPHA:217346
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Short stature, Isosexual precocious puberty, Corneal opacity	ORPHA:2788
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Baraitser-Winter Syndrome 2	Microphthalmia, Retrognathia, Short stature	OMIM:614583
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:259900
Bartsocas-Papas Syndrome 2	Corneal opacity, Micrognathia, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axilla...	OMIM:619339
Aarskog-Scott Syndrome	Short stature, Anteverted nares, Elevated circulating luteinizing hormone level, Bilateral crypto...	OMIM:305400
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Hyperplasia of the maxilla	OMIM:618587
Meckel Syndrome	Accessory spleen, Encephalocele, True hermaphroditism, Anophthalmia, Cataract, Sclerocornea, Micr...	ORPHA:564
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Frontonasal Dysplasia 2	Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg...	OMIM:613451
Microphthalmia, Lenz Type	Delayed eruption of teeth, Cataract, Hypospadias, Short stature, Cryptorchidism, Microcornea, Mic...	ORPHA:568
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta	OMIM:601216
Intellectual Disability-Strabismus Syndrome	Micropenis, Medullary nephrocalcinosis, Hypospadias	ORPHA:363528
Hereditary Bullous Dystrophy, Macular Type	Cataract, Short stature, External genital hypoplasia, Corneal opacity, Cryptorchidism, Growth del...	ORPHA:1867
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cataract, Choanal atresia...	OMIM:603457
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Hartsfield Syndrome	Encephalocele, Microphthalmia, Depressed nasal bridge, Intrauterine growth retardation	ORPHA:2117
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a...	OMIM:619743
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Hyperplasia of the maxilla	OMIM:613671
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Prominent nasal b...	OMIM:243605
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microphthalmia, Conjunctiva...	OMIM:167730
Trichothiodystrophy 1, Photosensitive	Cataract, Short stature, Microcornea, Hyperkeratosis, Keratoconjunctivitis sicca, Hypogonadism, M...	OMIM:601675
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Microphthalmia, Micropenis, De...	ORPHA:335
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit...	ORPHA:405
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose, Cataract	ORPHA:90653
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Micrognathia, Cryptorchidism, Microcornea, Abnormal fallopian tube mo...	ORPHA:3412
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cowden Syndrome 6	Cataract, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hydrocele testis,...	OMIM:615109
Gorlin Syndrome	Mandibular prognathia, Cataract, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchidism, Wi...	ORPHA:377
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Cataract, Short stature, Depressed nasal bridge, Pseudohypoparathyroid...	OMIM:612463
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Persistence of primary teeth, Carious teeth, Postnatal growth retardation, Bilater...	ORPHA:93325
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Short stature, Hypoplasia of the maxilla, Malar flattening, Abnormally prominent ...	OMIM:109120
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hyperopic astigmatism	ORPHA:397973
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cataract, Depressed nasal bridge, Hyperkeratosis, Microphthalmia	OMIM:612379
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Cataract, Short stature, Depressed nasal bridge...	OMIM:268400
Jacobsen Syndrome	Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Annular panc...	OMIM:147791
Adams-Oliver Syndrome 2	Depressed nasal bridge, Micrognathia, Bulbous nose, Developmental cataract, Microphthalmia	OMIM:614219
Braddock-Carey Syndrome 2	Microphthalmia, Bulbous nose, Retrognathia	OMIM:619981
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Delayed eruption of teeth, Encephalocele, Hypospadias, Short stature, Choanal atre...	OMIM:619148
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p...	ORPHA:96334
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature	OMIM:608154
Keipert Syndrome	Hypoplasia of the maxilla, Depressed nasal bridge, Short stature, Prominent nasal bridge	ORPHA:2662
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cataract, Short stature, Bulbous nose, Wide nasal bridge, Astigmatism, Microph...	OMIM:618571
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Cataract, Hypospadias...	ORPHA:93357
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau...	ORPHA:369837
Rodrigues Blindness	Narrow nasal bridge, Short stature, Sclerocornea, Microcornea, Microphthalmia	OMIM:268320
Meier-Gorlin Syndrome 5	Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r...	OMIM:613805
Cowden Syndrome 5	Cataract, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hydrocele testis,...	OMIM:615108
Frontorhiny	Encephalocele, Cataract, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Midline nasal gr...	ORPHA:391474
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Short stature, Prominent nasal bridge, Micrognathia, Hypoplasia of the max...	OMIM:300534
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Cadds	Elevated hepatic transaminase, Cataract, Cholangitis, Micrognathia, Cholestasis, Intrauterine gro...	ORPHA:369942
Harrod Syndrome	Cataract, Hypospadias, Long nose, Cryptorchidism, Dental malocclusion, Intrauterine growth retard...	ORPHA:2115
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormal nasal morphology, Cryptorchidism...	ORPHA:404440
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Persistence of primary teeth, Dental malocclusion, Wide nasal bridge, Ectopia pupillae,...	OMIM:618727
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Zellweger Syndrome	Hepatomegaly, Cataract, Short stature, Hypospadias, Corneal opacity, Micrognathia, Brushfield spo...	ORPHA:912
Carpenter Syndrome 1	Short stature, External genital hypoplasia, Depressed nasal bridge, Micrognathia, Precocious pube...	OMIM:201000
Myhre Syndrome	Abnormal penis morphology, Mandibular prognathia, Craniofacial hyperostosis, Severe short stature...	ORPHA:2588
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Cataract	OMIM:617255
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Short stature, Cataract, Disproportionate short-trunk short statu...	ORPHA:85194
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype...	ORPHA:73224
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
8Q22.1 Microdeletion Syndrome	Hypoplasia of the maxilla, Cryptorchidism, Depressed nasal ridge, Wide nasal bridge, Hypogonadism...	ORPHA:178303
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Micrognathia, Brushfield spots, Cryptorc...	OMIM:214110
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Depressed nasal ridge, Microphthalmia, Short nose, Intrauterine growth...	OMIM:300863
Bartter Syndrome Type 4	Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki...	ORPHA:89938
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, Microphthalmia, Short nose	ORPHA:163649
Cohen Syndrome	Short stature, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, H...	ORPHA:193
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Multiple pterygia, Micrognathia	OMIM:601809
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism	ORPHA:1307
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Short stature, Carious teeth, Cryptorchidism, Long nose, Intrauterine growth retarda...	OMIM:617602
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Hypospadias, Sclerocornea, Cataract, Precocious puberty, Microcornea, E...	OMIM:615877
Dubowitz Syndrome	Delayed eruption of teeth, Hypospadias, Short stature, Prominent nasal bridge, Micrognathia, Cari...	OMIM:223370
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Cataract, Depressed nasal bridge, Portal hyperte...	OMIM:620005
Fetal Alcohol Syndrome	Short stature, Anteverted nares, Micrognathia, Microphthalmia, Short nose, Intrauterine growth re...	ORPHA:1915
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteini...	ORPHA:3044
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis	OMIM:240300
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Corneal opacity, Micrognathia	OMIM:166300
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Tyrosinemia, Type I	Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid...	OMIM:276700
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short nose, Short stature	OMIM:300887
Treacher-Collins Syndrome	Encephalocele, Thyroid hypoplasia, Hypoplasia of penis, Small scrotum, Cataract, Abnormal dental ...	ORPHA:861
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lens coloboma, Umbilical hernia, Microphthalmia, Retrognathia	OMIM:618914
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Hypoplasia of the uterus, Microphthalmia, Vaginal atresia,...	OMIM:617914
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Abnormal liv...	ORPHA:456312
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Hypospadias, Optic nerve hypopl...	OMIM:206900
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Marshall Syndrome	Cataract, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of th...	ORPHA:560
Elsahy-Waters Syndrome	Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Megalo...	OMIM:211380
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Hepatic fibrosis, Apl...	OMIM:619879
Oculoauricular Syndrome	Cataract, Short mandibular rami, Sclerocornea, Phthisis bulbi, Spina bifida occulta, Developmenta...	OMIM:612109
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Depressed nasal bridge, Anteverted nares, Bulbous nose, Microphthalmia, Short nose	OMIM:614105
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Hypospadias, Anteverted nares, Microcornea, Microphthalmia, Retrognathia, Clitoral hype...	OMIM:616449
Monosomy 18P	Short stature, Micrognathia, Carious teeth, Wide nasal bridge, Microphthalmia	ORPHA:1598
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Nephrocalcinosis	OMIM:618005
Gracile Bone Dysplasia	Short stature, Asplenia, Hypoplastic spleen, Aniridia, Microphthalmia, Micropenis	OMIM:602361
Familial Tumoral Calcinosis	Nephrocalcinosis	ORPHA:53715
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Short stature, Choanal atresia, Midnasal stenosis,...	OMIM:147250
Cowden Syndrome 1	Cataract, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hydrocele testis,...	OMIM:158350
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Increased circulatin...	OMIM:110100
Meier-Gorlin Syndrome 3	Microretrognathia, Small scrotum, Hypospadias, Short stature, Prominent nasal bridge, Micrognathi...	OMIM:613803
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Supernumerary nipple, Hypoplasia of the maxilla, Wide nasal bridge, Palmoplantar ker...	OMIM:106260
Trisomy 18	Microretrognathia, Cataract, Short stature, Choanal atresia, Spina bifida, Cryptorchidism, Anence...	ORPHA:3380
Cockayne Syndrome B	Mandibular prognathia, Slender nose, Hepatomegaly, Severe short stature, Prominent nasal bridge, ...	OMIM:133540
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Corneal dystrophy, Hypoplasia of the maxilla, Cryptorchidism...	ORPHA:1101
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Cataract, Prominent nasal bridge, Ectopia lentis, Bifid nasal tip, Mic...	ORPHA:2712
Brachytelephalangic Chondrodysplasia Punctata	Cataract, Optic disc hypoplasia, Optic nerve hypoplasia, Proportionate short stature, Broad nasal...	ORPHA:79345
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:601678
Microphthalmia, Syndromic 9	Anophthalmia, Short stature, Severe short stature, Micrognathia, Cryptorchidism, Bilateral microp...	OMIM:601186
Wagro Syndrome	Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Aniridia, Malar flattening, Hypop...	OMIM:612469
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Cleft mandible,...	ORPHA:364577
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla	OMIM:246560
Skraban-Deardorff Syndrome	Hyperplasia of the maxilla, Depressed nasal bridge, Anteverted nares, Micrognathia	OMIM:617616
Hallermann-Streiff Syndrome	Natal tooth, Choanal atresia, Proportionate short stature, Micrognathia, Underdeveloped nasal ala...	ORPHA:2108
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria	ORPHA:428
Temtamy Preaxial Brachydactyly Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Abnormal lens mor...	ORPHA:363417
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Wide nose, Elevated circulating aspartate aminotransferase concent...	OMIM:300280
Pelvis-Shoulder Dysplasia	Hydranencephaly, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Micrognathia,...	ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Wide nose, Cataract, Hypospadias, Short stature, Anteverted nares, Micrognathia, P...	OMIM:257300
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Prominent nasal bridge	OMIM:300676
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism, Microcornea, Microp...	ORPHA:899
Pseudoxanthoma Elasticum	Nephrocalcinosis	ORPHA:758
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Peters ...	OMIM:236670
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Ocular albinism, Wide nasal bridge, Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Rapp-Hodgkin Syndrome	Hypospadias, Short stature, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the ...	OMIM:129400
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Cataract, Short stature, Hypoplasia of the maxilla, Cario...	ORPHA:1775
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Corneal opacity, Prominent nasal bridge, Mi...	OMIM:601812
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Bulbous nose	OMIM:618737
Pycnodysostosis	Obtuse angle of mandible, Rhizomelia, Decreased response to growth hormone stimulation test, Dela...	ORPHA:763
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge...	ORPHA:83461
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cryptorchidism, Bulbous nose, Microphthalmia, Overhanging nasal tip, Low hanging columella	OMIM:618494
1Q21.1 Microdeletion Syndrome	Cataract, Short stature, Cryptorchidism, Bulbous nose, Wide nasal bridge, Microphthalmia, Iris co...	ORPHA:250989
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Hallermann-Streiff Syndrome	Natal tooth, Cataract, Prominent nasal bridge, Proportionate short stature, Micrognathia, Underde...	OMIM:234100
Pallister-Hall Syndrome	Thyroid dysgenesis, Natal tooth, Short stature, Anteverted nares, Depressed nasal bridge, Choanal...	OMIM:146510
Kapur-Toriello Syndrome	Hypoplasia of penis, Bulbous nose, Hypoplastic labia majora, Microphthalmia, Iris coloboma	ORPHA:2328
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E...	OMIM:130650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Cohen Syndrome	Short stature, Prominent nasal bridge, Decreased response to growth hormone stimulation test, Mic...	OMIM:216550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Cataract, Corneal opacity	OMIM:613153
Bartsocas-Papas Syndrome 1	Pterygium, Absent external genitalia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Microg...	OMIM:263650
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization, Micrognathia	OMIM:619074
Chromosome 1Q41-Q42 Deletion Syndrome	Anteverted nares, Short stature, Depressed nasal bridge, Broad nasal tip, Supernumerary nipple, C...	OMIM:612530
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Conjunctivitis, Iris coloboma, Convex nasal ridge	ORPHA:207
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Hypoparathyroidism, Cataract, Short stature, Abnormal dental enamel mo...	ORPHA:2238
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication	OMIM:268310
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Cataract, Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridge, Gr...	OMIM:614052
Ohdo Syndrome, X-Linked	Small scrotum, Depressed nasal bridge, Micrognathia, Prominent nose, Cryptorchidism, Bulbous nose...	OMIM:300895
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Cataract, Anteverted nares, Micrognathia, Intrahepatic cholest...	ORPHA:46059
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:241200
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Hypoplasia of...	OMIM:180500
Cockayne Syndrome Type 1	Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Anophthalmia, Cataract, Delay...	ORPHA:90321
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enlarged kidney, ...	ORPHA:79259
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Sclerocornea, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Abnorma...	ORPHA:2556
Diaphanospondylodysostosis	Depressed nasal bridge, Micrognathia, Disproportionate short-trunk short stature, Depressed nasal...	OMIM:608022
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Shwachman-Diamond Syndrome 1	Nephrocalcinosis	OMIM:260400
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge, Choanal atresia	ORPHA:93262
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Dominant Beta-Thalassemia	Hypoparathyroidism, Depressed nasal bridge, Malar prominence, Hypersplenism, Splenomegaly, Jaundi...	ORPHA:231226
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Severe short stature, Hypospadias, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:2554
Rabson-Mendenhall Syndrome	Nephrocalcinosis, Long penis	ORPHA:769
Roberts Syndrome	Cataract, Micrognathia, Postnatal growth retardation, Cryptorchidism, Underdeveloped nasal alae, ...	ORPHA:3103
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Depressed nasal bridge	OMIM:602501
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Externa...	ORPHA:141099
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly, Micrognathia	OMIM:614526
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Intrauterine gr...	OMIM:603194
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Short stature, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee,...	OMIM:309801
Tetraamelia Syndrome 1	Cataract, Hypoplasia of the fallopian tube, Choanal atresia, Micrognathia, Absent external genita...	OMIM:273395
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Short nose	ORPHA:79113
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne...	OMIM:219800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Prominent nasal tip, Hypospadias, Anteverted nares, Developmental cataract...	ORPHA:464738
Gorlin-Chaudhry-Moss Syndrome	Short stature, Sclerocornea, Hypoplasia of the maxilla, Astigmatism, Umbilical hernia, Aplasia/Hy...	ORPHA:2095
Ehlers-Danlos Syndrome, Classic Type, 1	Short stature, Ectopia lentis, Recurrent sinusitis, Umbilical hernia, Narrow maxilla	OMIM:130000
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Familial Mediterranean Fever	Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:342
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Long nose, ...	OMIM:309520
Trisomy 8P	Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis	ORPHA:264450
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Van Maldergem Syndrome 2	Bifid scrotum, Hypospadias, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cryp...	OMIM:615546
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Choanal stenosis, Iris coloboma, Short stature, Depressed nasal bri...	OMIM:620186
Mosaic Variegated Aneuploidy Syndrome	Wide nose, Cataract, Short stature, Vaginal neoplasm, Corneal opacity, Micrognathia, Depressed na...	ORPHA:1052
Aniridia-Absent Patella Syndrome	Aniridia, Cryptorchidism, Cataract	ORPHA:1069
Atelosteogenesis, Type Iii	Depressed nasal bridge, Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Malar flattening	OMIM:108721
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,...	OMIM:618150
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Short stature, Depressed nasal bridge, Microcornea, Severe postnatal growth retardation...	ORPHA:35173
Split Lower Lip	Narrow maxilla	OMIM:183400
Mosaic Trisomy 1	Microretrognathia, Hepatic agenesis, Depressed nasal bridge, Wide nasal bridge, Opacification of ...	ORPHA:1692
Pelvis-Shoulder Dysplasia	Short stature, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, Iris co...	OMIM:169550
Cerebrooculofacioskeletal Syndrome 4	Short stature, Prominent nasal bridge, Micrognathia, Bilateral microphthalmos, Intrauterine growt...	OMIM:610758
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge	ORPHA:1540
Fryns Syndrome	Hypospadias, Corneal opacity, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, ...	ORPHA:2059
Fanconi Anemia	Micrognathia, Abnormality of the liver, Abnormality of the uterus, Hypospadias, Short stature, Sp...	ORPHA:84
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Corneal opacity, Anteverted nares, Depressed nasal bridge, Underdeveloped na...	ORPHA:920
Isolated Ectopia Lentis	Mandibular prognathia, Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening	ORPHA:1885
Cousin Syndrome	Rhizomelia, Micrognathia, Ambiguous genitalia, female, Disproportionate short stature, Microcorne...	OMIM:260660
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Intrauterine gr...	OMIM:611134
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b...	OMIM:616367
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract, Hypogonadism, Short stature	OMIM:610651
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphth...	ORPHA:370959
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Keratitis, Conjunctivitis, Deviated nasal septu...	OMIM:123500
Frontofacionasal Dysplasia	Cataract, Underdeveloped nasal alae, Microcornea, Midline defect of the nose, Bifid nose, Cranium...	OMIM:229400
Tibial Hemimelia	Absent tibia	OMIM:275220
Weill-Marchesani Syndrome 1	Cataract, Short stature, Depressed nasal bridge, Proportionate short stature, Ectopia lentis, Hyp...	OMIM:277600
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:212550
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Depressed nasal bridge, Malar prominence, Hypersplenism, Spleno...	ORPHA:231214
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Hypospadias, Rhizomelia, ...	OMIM:166250
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Postnatal growth retardation, Concave nasal ridge, Microphthalmia, Malar fl...	OMIM:302960
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Wide nose, Short stature, Short nose	OMIM:614261
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Mend Syndrome	Cataract, Short stature, Prominent nasal bridge, Micrognathia, Cryptorchidism, Abnormal nasal bri...	ORPHA:401973
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Hypoplasia of the ma...	ORPHA:50814
Dysostosis, Stanescu Type	Narrow nasal bridge, Short stature, Abnormal dental enamel morphology, Hypoplasia of the maxilla,...	ORPHA:1798
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Micrognathia, Cryptorchidism, Bulbous nose, Growth delay, Umbilical hernia,...	OMIM:613884
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior...	OMIM:221900
Fanconi Anemia, Complementation Group L	Micrognathia, Wide nasal bridge, Depressed nasal tip, Growth delay, Aplasia of the uterus, Microp...	OMIM:614083
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Choanal stenosis, Micrognathia	OMIM:241310
Monosomy 13Q14	Cataract, Short stature, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Microphthalmia,...	ORPHA:1587
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ast...	OMIM:609053
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Fibrous Dysplasia Of Bone	Precocious puberty in females, Short stature, Testicular neoplasm, Elevated circulating growth ho...	ORPHA:249
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Antecubital pterygium, Hypopla...	ORPHA:40366
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Short stature, Depressed nasal bridge, Micrognathia, Carious teeth, C...	OMIM:616734
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Cataract, Short stature, Antever...	ORPHA:192
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Short nose, Wide nasal bridge	OMIM:218000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Short stature, Anteverted nares, Micrognathia, Choanal atresia, Cryptorchidism, Bulb...	OMIM:616975
Galloway-Mowat Syndrome 1	Cataract, Short stature, Narrow nasal ridge, Micrognathia, Prominent nose, Hypoplasia of the iris...	OMIM:251300
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena...	ORPHA:2044
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Prominent nose, Micrognathia, Mi...	ORPHA:435638
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Cataract, Short stature, Supernumerary nipple...	OMIM:308300
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Anophthalmia, Anteverted nares, Choanal atresia, Aplasia/Hypo...	ORPHA:2162
Joubert Syndrome 14	Encephalocele, Prominent nasal bridge, Meningocele, Growth delay, Microphthalmia, Malar flattening	OMIM:614424
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma	ORPHA:231736
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro...	ORPHA:91495
Meckel Syndrome, Type 1	Accessory spleen, Natal tooth, Occipital encephalocele, External genital hypoplasia, Malformation...	OMIM:249000
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Bulbous nose, Convex nasal ridge	OMIM:614437
Frontonasal Dysplasia 3	Microphthalmia, Wide nasal bridge, Underdeveloped nasal alae	OMIM:613456
Kagami-Ogata Syndrome	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:608149
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Depressed nasal bridge, Supernumerary nipple, Bulbous nose, Wide nasal bridge, Microphthalmia, Re...	OMIM:620098
Roberts-Sc Phocomelia Syndrome	Micrognathia, Hyperplasia of the maxilla, Accessory spleen, Hypospadias, Cryptorchidism, Long pen...	OMIM:268300
Fanconi Anemia, Complementation Group F	Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallu...	OMIM:603467
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Micrognathia, Precocious puberty, Cryptorchidism, Labial hypertrophy, Postnatal gro...	ORPHA:96191
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia	OMIM:613001
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Prominent nasal bridge, Microphthalmia, Short nose	ORPHA:65286
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Postnatal growth retardation, Intrau...	ORPHA:251061
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Distal Xq28 Microduplication Syndrome	Short stature, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Recurrent upper respiratory...	ORPHA:293939
Heart And Brain Malformation Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Growth delay, Microphthalmia	OMIM:616920
Incontinentia Pigmenti	Delayed eruption of teeth, Cataract, Short stature, Abnormal dental enamel morphology, Corneal op...	ORPHA:464
Oculodentodigital Dysplasia	Narrow nasal bridge, Cataract, Anteverted nares, Narrow nose, Underdeveloped nasal alae, Carious ...	OMIM:164200
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Absent nipple, Anteverted nares, Mic...	OMIM:209885
2Q31.1 Microdeletion Syndrome	Short stature, Micrognathia, Cryptorchidism, Bulbous nose, Microphthalmia, Iris coloboma	ORPHA:251014
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria	ORPHA:90041
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Short stature, Depressed nasal bridge, Proportionate short stature, Lens ...	OMIM:608328
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Anophthalmia, Hypospadias, Short stature, Septate vagina, Persistence ...	OMIM:300166
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Nablus Mask-Like Facial Syndrome	Anteverted nares, Depressed nasal bridge, Hypoplasia of the maxilla, Cryptorchidism, Wide nasal b...	OMIM:608156
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Growth delay, Peters anomaly, Microphthalmia	OMIM:120200
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Trichothiodystrophy	Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchidism, Bilateral microphthalm...	ORPHA:33364
Williams Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr...	ORPHA:904
Renpenning Syndrome 1	Mandibular prognathia, Cataract, Hypospadias, Short stature, Phimosis, Micrognathia, Bulbous nose...	OMIM:309500
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Broad nasal tip, Bifid nasal tip, Microphthalmia, Vaginal atresia	OMIM:248450
Myoclonic-Astatic Epilepsy	Microphthalmia, Thick nasal alae, Anteverted nares, Wide nasal bridge	ORPHA:1942
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/Hypopl...	ORPHA:306542
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Micrognathia, Microcornea, Hypoplastic nipples, Microphthalmia	OMIM:156610
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Iris atrophy, Short stature, Wide nasal bridge, Microphthalmia, Malar flat...	OMIM:201180
Developmental And Speech Delay Due To Sox5 Deficiency	Hyperplasia of the maxilla	ORPHA:313892
Saethre-Chotzen Syndrome	Depressed nasal bridge, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptor...	ORPHA:794
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Avascular necrosis of the capital femoral epiphysis, Abnormal retinal v...	ORPHA:247691
Cockayne Syndrome	Lentiglobus, Hepatomegaly, Cryptorchidism, Abnormal cornea morphology, Delayed puberty, Elevated ...	ORPHA:191
Andersen Cardiodysrhythmic Periodic Paralysis	Short stature, Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Mi...	OMIM:170390
Neu-Laxova Syndrome 1	Wide nose, Cataract, Hydranencephaly, Spina bifida, Micrognathia, Bifid uterus, Cryptorchidism, D...	OMIM:256520
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Wide nasal bridge, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Arthrogryposis Multiplex Congenita 5	Medullary nephrocalcinosis	OMIM:618947
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypopl...	ORPHA:87
Refsum Disease	Splenomegaly, Microphthalmia, Cataract, Anosmia	ORPHA:773
Charge Syndrome	Bifid scrotum, Delayed eruption of teeth, Anophthalmia, Hypogonadotropic hypogonadism, Short stat...	ORPHA:138
Fryns Syndrome	Bifid scrotum, Microretrognathia, Ectopic pancreatic tissue, Hypospadias, Anteverted nares, Crypt...	OMIM:229850
Van Maldergem Syndrome 1	Hypospadias, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal bridge, Gro...	OMIM:601390
Myhre Syndrome	Mandibular prognathia, Cataract, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla...	OMIM:139210
Cerebrofacioarticular Syndrome	Hypospadias, Short stature, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/st...	ORPHA:314679
Adams-Oliver Syndrome	Encephalocele, Cataract, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Microphthalmia	ORPHA:974
Stevenson-Carey Syndrome	Prominent nasal tip, Microphthalmia, Anteverted nares, Underdeveloped nasal alae	OMIM:611961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Abnormally large globe	OMIM:615249
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hyperplasia of the maxilla, Prominent nose, Micrognathia	OMIM:620194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Cataract, Optic nerve hypoplasia, Peters anomaly, Microphthalmia, Retrognathia	OMIM:614643
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten...	OMIM:194050
Leprechaunism	Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged kidney	ORPHA:508
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Co...	ORPHA:101330
Pseudoleprechaunism Syndrome, Patterson Type	Prominent nose, Abnormal mandible condylar process morphology, Hyperplasia of the maxilla, Abnorm...	ORPHA:2976
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Ovarian fibroma, Cataract, Spina bifida, Wide nasal bridge, Ovarian carcin...	OMIM:109400
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Fraser Syndrome	Encephalocele, Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia, Cleft ala nasi, Dep...	ORPHA:2052
22Q11.2 Deletion Syndrome	Micrognathia, Hypoplasia of the thymus, Abnormality of the uterus, Hypoparathyroidism, Hypospadia...	ORPHA:567
Norrie Disease	Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ect...	ORPHA:649
Meckel Syndrome, Type 5	Anencephaly, Microphthalmia, Occipital encephalocele, Bile duct proliferation	OMIM:611561
Mohr Syndrome	Short stature, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, ...	OMIM:252100
Monosomy 9P	Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Choanal atresia, Cryptorchid...	ORPHA:261112
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Choana...	OMIM:101600
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Micrognathia, Bifid uterus, Anencephaly, Stillbirth, Midline defec...	OMIM:236680
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Anteverted nares	ORPHA:228396
Monosomy 9Q22.3	Delayed eruption of teeth, Ovarian fibroma, Cataract, Umbilical hernia, Microphthalmia, Short nose	ORPHA:77301
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Cataract, Mild postnatal growth retardation, Carious...	ORPHA:90324
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Anisocoria, Male urethral meatus stenosis,...	OMIM:613406
Acrofacial Dysostosis, Cincinnati Type	Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Aplastic z...	OMIM:616462
Cat Eye Syndrome	Short stature, Micrognathia, Biliary atresia, Umbilical hernia, Microphthalmia, Iris coloboma	OMIM:115470
Rubinstein-Taybi Syndrome 1	Premature thelarche, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Prominent...	OMIM:180849
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Choanal atresia, Bilateral microphthalmos, Depressed nasal ridge, Ethmoid...	OMIM:607597
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron...	OMIM:136140
Deafness, X-Linked 7	Wide nasal bridge, Unilateral microphthalmos	OMIM:301018
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hypoplastic labia minora, Hypoplastic la...	OMIM:224690
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nose, Short stature, Anteverted nares, Decreased response to growth hormone stimulation test...	OMIM:213980
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Andersen-Tawil Syndrome	Abnormality of dental color, Short stature, Persistence of primary teeth, Hypoplasia of the maxil...	ORPHA:37553
Oculo-Palato-Cerebral Syndrome	Cataract, Short stature, Leukocoria, Microphthalmia, Intrauterine growth retardation	ORPHA:2714
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Microphthalmia	OMIM:227650
Focal Dermal Hypoplasia	Narrow nasal bridge, Acute hepatic failure, Corneal opacity, Abnormal dental enamel morphology, S...	ORPHA:2092
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Absent nasal septal cartilage, M...	OMIM:157170
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Microretrognathia, Hypospadias, Optic nerve hypoplasia, Short stature, Mic...	ORPHA:508498
Oculopalatocerebral Syndrome	Microphthalmia, Short stature, Leukocoria	OMIM:257910
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Overhanging nasal tip	OMIM:619142
Medullary Thyroid Carcinoma	Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Abnormal liver parenchyma morphology	ORPHA:1332
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, Severe short stature, Hypospadias, Optic nerve hypoplasia, Prominent nasal bri...	ORPHA:468631
Cutis Laxa, Autosomal Recessive, Type Iic	Nephrocalcinosis, Micropenis	OMIM:617402
Nager Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Abnormal nasal morphology, Micrognathia	ORPHA:245
Momo Syndrome	Delayed eruption of teeth, Short stature, Bilateral microphthalmos, Dental malocclusion, Taurodon...	ORPHA:2563
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Narrow nasal bridge, Peripheral opacification of the cornea, Short sta...	OMIM:259600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Bulbous nose, C...	OMIM:608670
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Bulbous nose, Anteverted nares	ORPHA:481152
Yunis-Varon Syndrome	Narrow nasal base, Cataract, Hypospadias, Short stature, Sclerocornea, Micrognathia, Abnormality ...	ORPHA:3472
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Microphthalmia, Intrauterine growt...	OMIM:227645
Fanconi Anemia, Complementation Group E	Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism, Short stature	OMIM:600901
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Choanal atresia, Absence of Stens...	OMIM:129900
Pseudotrisomy 13 Syndrome	Encephalocele, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis	OMIM:264480
Branchiooculofacial Syndrome	Short nasal septum, Anophthalmia, Hypospadias, Cataract, Depressed nasal bridge, Micrognathia, Po...	OMIM:113620
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Anteverted nares, Hypoplasia of the maxilla, Hyperkeratosis, Keratoconjunctivitis sicc...	ORPHA:238468
Greenberg Dysplasia	Hepatomegaly, Rhizomelia, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Large ...	OMIM:215140
Fraser Syndrome 1	Encephalocele, Wide nose, Anophthalmia, Hypospadias, Corneal opacity, Cleft ala nasi, Depressed n...	OMIM:219000
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea, Thyroid C cell hyperplasia, Delayed eruption of primary teeth	OMIM:300952
Lowe Oculocerebrorenal Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Corneal scarring, Developmental cata...	OMIM:309000
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Unilateral microphthalmos	OMIM:615085
Galloway-Mowat Syndrome 3	Microphthalmia, Intrauterine growth retardation, Short stature, Micrognathia	OMIM:617729
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Doors Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl...	ORPHA:79500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Choanal atresia, Absence of Stens...	OMIM:604292
Atelis Syndrome 2	Prominent nose, Micrognathia, Bulbous nose, Developmental cataract, Microphthalmia	OMIM:620185
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Short stature, Depressed nasal bridge, Absent nipple, Micro...	OMIM:612289
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Shprintzen-Goldberg Syndrome	Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Umbilical hernia, Retr...	ORPHA:2462
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Joubert Syndrome 2	Encephalocele, Microphthalmia, Depressed nasal bridge, Hypoplastic male external genitalia	OMIM:608091
Shprintzen-Goldberg Craniosynostosis Syndrome	Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, U...	OMIM:182212
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Blue irides	OMIM:105830
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Goldberg-Shprintzen Syndrome	Prominent nasal bridge, Hypoplasia of the maxilla, Corneal erosion, Bulbous nose, Wide nasal brid...	OMIM:609460
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Mowat-Wilson Syndrome	Bifid scrotum, Delayed eruption of teeth, Prominent nasal tip, Cataract, Hypospadias, Short statu...	OMIM:235730
Sarcoidosis	Renal insufficiency, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointerstitial nephritis	ORPHA:797
Lymphedema-Distichiasis Syndrome	Micrognathia, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal ulceration	OMIM:153400
Pallister-Hall Syndrome	Small scrotum, Depressed nasal ridge, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of ...	ORPHA:672
Focal Dermal Hypoplasia	Delayed eruption of teeth, Narrow nasal bridge, Anophthalmia, Short stature, Cleft ala nasi, Supe...	OMIM:305600
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly	OMIM:619053
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Microphthalmia, Iris coloboma, Supernumerary nipple	ORPHA:1236
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Severe short stature, Rhizomelia, Corneal opacity, Ectopia pupillae, Lens subluxation, Microphtha...	ORPHA:85167
Distal Deletion 19P	Hypoplasia of the maxilla, Umbilical hernia, Vaginal hernia	ORPHA:96129
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Cataract, Optic disc hypoplasia, Choanal atresia, Choanal stenos...	OMIM:607323
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Severe short stature, Malar flattening	OMIM:231070
Charge Syndrome	Anophthalmia, External genital hypoplasia, Decreased response to growth hormone stimulation test,...	OMIM:214800
Peters-Plus Syndrome	Hypoplasia of the vagina, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Conical ...	OMIM:261540
Branchioskeletogenital Syndrome	Mandibular prognathia, Absent nipple, Depressed nasal bridge, Absent external genitalia, Hypoplas...	ORPHA:1299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Papillorenal Syndrome	Microphthalmia, Cataract, Short stature, Lens luxation	OMIM:120330
Degcags Syndrome	Hepatomegaly, Hypospadias, Prominent nasal bridge, Anteverted nares, Micrognathia, Prominent nose...	OMIM:619488
Generalized Arterial Calcification Of Infancy	Nephrocalcinosis, Hyperphosphaturia, Medullary nephrocalcinosis, Cortical nephrocalcinosis	ORPHA:51608
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Annular pancreas, Microphthalmia, ...	OMIM:227646
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Postnatal growth retardation, Microcornea, Microphthalmia, Iris ...	ORPHA:959
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	ORPHA:1553
Fraser Syndrome 2	Wide nose, Underdeveloped nasal alae, Hypoplasia of the thymus, Ambiguous genitalia, Microphthalmia	OMIM:617666
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Mycophenolate Mofetil Embryopathy	Bifid nose, Microphthalmia, Iris coloboma, Micrognathia	ORPHA:268249
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy...	OMIM:193300
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Polycystic ovaries, Microphthalmia, Megalocornea, Congenital aphakia	ORPHA:137675
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Severe short stature, Short stature, Developmental cataract, Microphthalmia	OMIM:127000
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Anophthalmia, Abnormality of the spleen, Perineal fistula, Growth delay, Rectovagin...	ORPHA:2538
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Van Den Ende-Gupta Syndrome	Depressed nasal bridge, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, Underdeveloped nas...	OMIM:600920
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of...	OMIM:218330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Micrognathia, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal strom...	OMIM:253280
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Stickler Syndrome	Cataract, Short stature, Abnormal dental enamel morphology, Anteverted nares, Micrognathia, Hypop...	ORPHA:828
Liver Disease, Severe Congenital	Micrognathia, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He...	OMIM:619991
Teebi-Shaltout Syndrome	Short stature, Underdeveloped nasal alae, Broad nasal tip, Wide nasal bridge, Microphthalmia	OMIM:272950
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Mild postnatal growth retardation, Micrognathia, Bilateral cryptorchidism,...	OMIM:150230
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Short stature, Brushfield spots, Lens coloboma, Blue irides, M...	OMIM:619539
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia...	OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Cataract	OMIM:253800
Treacher Collins Syndrome 1	Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland m...	OMIM:154500
Cornelia De Lange Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Cataract, Hypospadias, Short stature, Choanal atr...	ORPHA:199
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Female hypogonadism, Sclerocornea, Micrognathia, Cryptorchidism, Mic...	OMIM:607932
Oculotrichoanal Syndrome	Bifid nasal tip, Microphthalmia, Anophthalmia	ORPHA:2717
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Severe short stature, Anophthalmia, Anteverted nares, Cataract, Wide nasal bridge, Mic...	ORPHA:2526
Steinfeld Syndrome	Microphthalmia, Iris coloboma, Aplasia of the nose, Absent gallbladder	OMIM:184705
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Short stature, Cataract, ...	ORPHA:857
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia, Adenoma sebaceum, Iris coloboma	ORPHA:2612
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, ...	OMIM:619534
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Cataract, Anteverted nares, Sutural cataract, Prominent nasal bridge, Micr...	OMIM:612474
Saethre-Chotzen Syndrome	Short stature, Hypoplasia of the maxilla, Long nose, Cleft of chin, Buphthalmos, Malar flattening...	OMIM:101400
Phace Association	Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Developmental cataract	OMIM:606519
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Ectopic thyroid, Microphthalmia, H...	ORPHA:42775
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Short stature, Phthisis bulbi, Absent anterior chamber of the eye, Microp...	OMIM:259770
Holoprosencephaly 1	Short stature, Proboscis, Aplasia of the nose, Microphthalmia, Micropenis	OMIM:236100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Apla...	OMIM:305100
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla	OMIM:313500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Mandibular prognathia, Asplenia, Abnormal pupil morphology, Microcornea, Webbed pe...	ORPHA:261552
Zttk Syndrome	Absent gallbladder, Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Wide nasal ...	OMIM:617140
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Cataract, Depressed nasal bridge, Wide nose, Urethrovaginal fistula, Microgn...	ORPHA:93271
Mowat-Wilson Syndrome	Bifid scrotum, Mandibular prognathia, Asplenia, Webbed penis, Micropenis, Broad columella, Iris c...	ORPHA:2152
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele, Iris coloboma	OMIM:601707
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Mandibular prognathia, Asplenia, Webbed penis, Micropenis, Iris coloboma, Hypospad...	ORPHA:261537
Primrose Syndrome	Hypergonadotropic hypogonadism, Short stature, Anteverted nares, Depressed nasal bridge, Bilatera...	OMIM:259050
Faciocardiomelic Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Hyperplasia of the m...	OMIM:612731
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Increased axial length of the globe, Pine...	ORPHA:513456
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma, Aplasia of the nose, Absent gallbladder	ORPHA:3186
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Adrenal pheochromocyto...	ORPHA:892
Pmm2-Cdg	Mandibular prognathia, Elevated hepatic transaminase, Cataract, Hypogonadotropic hypogonadism, Pr...	ORPHA:79318
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Short stature, Depressed nasal bridg...	OMIM:614188
8Q24.3 Microdeletion Syndrome	Microretrognathia, Branchial cyst, Infancy onset short-trunk short stature, Ectopic posterior pit...	ORPHA:508488
Microphthalmia, Syndromic 1	Anophthalmia, Hypospadias, Cryptorchidism, Agenesis of maxillary lateral incisor, Growth delay, M...	OMIM:309800
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ...	OMIM:175780
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Depressed nasal bridge, Optic nerve hypoplasia, Proportionate short stature, ...	ORPHA:500150
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Branchial anomaly...	OMIM:164210
Singleton-Merten Syndrome 1	Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the toot...	OMIM:182250
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Disproportionate short-trunk short stature	OMIM:300106
Nut Midline Carcinoma	Pancreatic squamous cell carcinoma, Pancreatoblastoma	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 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

X-ray

Eye Morphology

X-ray

X-ray

X-ray

Embryo LacZ

X-ray

Human diseases caused by Brd4 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data