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Gene: Brd4 MGI:1888520

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Gene Summary

Name:
bromodomain containing 4
Synonyms:
MCAP,  WI-11513,  HUNK1

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal cranium morphology Brd4tm1b(EUCOMM)Wtsi HET Early adult 9.08×10-06
decreased total retina thickness Brd4tm1b(EUCOMM)Wtsi HET Early adult 1.47×10-22
abnormal retinal inner nuclear layer morphology Brd4tm1b(EUCOMM)Wtsi HET   Early adult 1.73×10-07
short tibia Brd4tm1b(EUCOMM)Wtsi HET Early adult 1.24×10-06
embryonic lethality prior to organogenesis Brd4tm1b(EUCOMM)Wtsi HOM   E9.5 0.00
abnormal retinal outer nuclear layer morphology Brd4tm1b(EUCOMM)Wtsi HET Early adult 4.00×10-37
abnormal retinal blood vessel morphology Brd4tm1b(EUCOMM)Wtsi HET   Early adult 1.87×10-06
increased grip strength Brd4tm1b(EUCOMM)Wtsi HET Early adult 9.90×10-07
decreased prepulse inhibition Brd4tm1b(EUCOMM)Wtsi HET Early adult 7.69×10-15
preweaning lethality, complete penetrance Brd4tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

Eye Morphology

VIP of left fundus

12 Images

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Eye Morphology

VIP of left eye

12 Images

View images
X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Eye Morphology

VIP of right eye

12 Images

View images
Embryo LacZ

LacZ images wholemount

4 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images
Eye Morphology

VIP of right fundus

12 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

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.

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
Hypospadias, Hypoplastic labia majora, Micrognathia, Microcornea, Hypoplastic nipples, Severe pos... 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 Similarity of
phenotypes		 Matching phenotypes Source
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Blue Diaper Syndrome
Nephrocalcinosis OMIM:211000
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Secondary amenorrhea, Abnormal... ORPHA:755
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Growth delay, Short stature, Hypogonadism, Cataract, Retrognathia, Microcornea ORPHA:2528
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Cerebrooculofacioskeletal Syndrome 2
Micrognathia, Developmental cataract, Intrauterine growth retardation, Microphthalmia, Growth del... OMIM:610756
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Short stature, Penoscrotal hypospadias, Abnormality of the maxilla, Disproportionate short-trunk ... ORPHA:329252
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis OMIM:239199
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis ORPHA:33111
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis OMIM:614473
Renal Tubular Acidosis Iii
Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis OMIM:267200
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Paget Disease Of Bone 6
Nephrocalcinosis OMIM:616833
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Nephrocalcinosis ORPHA:564178
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Microphthalmia, Intrauterine growth retardation, Short stature, Cataract, Microcornea OMIM:616171
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microphthalmia, Intrauterine growth retardation OMIM:616570
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Faciothoracogenital Syndrome
Micrognathia, Microphthalmia, Prominent scrotal raphe, Shawl scrotum, Glandular hypospadias OMIM:227320
Mmep Syndrome
Mandibular prognathia, Cryptorchidism, Microphthalmia ORPHA:3434
Spastic Paraparesis And Deafness
Hypogonadism, Cataract, Short stature OMIM:312910
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Warburg Micro Syndrome 3
Hypoplastic labia minora, Micrognathia, Developmental cataract, Microphthalmia, Shallow anterior ... OMIM:614222
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis OMIM:602722
Cofs Syndrome
Micrognathia, Microphthalmia, Intrauterine growth retardation, Short stature, Hypogonadism, Cataract ORPHA:1466
Microphthalmia, Syndromic 12
Micrognathia, Microphthalmia, Anophthalmia, Bicornuate uterus, Retrognathia, Cryptorchidism OMIM:615524
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... OMIM:104200
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Nephrocalcinosis OMIM:617370
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Microphthalmia, Intrauterine growth retardation, Short stature, Hypogonadotropic hy... ORPHA:48431
Hypercalcemia, Infantile, 1
Hypercalciuria, Polyuria, Nephrolithiasis, Nephrocalcinosis OMIM:143880
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Cataract, Short stature ORPHA:2815
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Micrognathia, Increased size of the clitoris, Ambiguous genitalia, female, Mandibular condyle hyp... ORPHA:2975
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Retinal detach... OMIM:607143
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Warburg Micro Syndrome 4
Microcornea, Developmental cataract, Microphthalmia, Severe postnatal growth retardation, Short s... OMIM:615663
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Nephrocalcinosis OMIM:179800
Orofaciodigital Syndrome Ix
Toe syndactyly, Retinal coloboma, Hand polydactyly, Camptodactyly, Short tibia OMIM:258865
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Short stature, External genital hypoplasia, Postnatal growth retardation, Cataract, Retrognathia,... OMIM:612947
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Warburg Micro Syndrome 1
Microcornea, Micrognathia, Developmental cataract, Microphthalmia, Short stature, External genita... OMIM:600118
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Wagr Syndrome
Micrognathia, Short stature, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus,... ORPHA:893
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency OMIM:204690
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria OMIM:616026
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Primary Hyperoxaluria Type 1
Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dysuria, Nephro... ORPHA:93598
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Chr... OMIM:248190
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis OMIM:615633
Microphthalmia, Syndromic 8
Mandibular prognathia, Cryptorchidism, Microphthalmia, Microcornea OMIM:601349
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro... OMIM:146255
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Nephrolithiasis, Nephrocalcinosis, Hypercalciuria OMIM:601198
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Biemond Syndrome Type 2
Hypospadias, Microphthalmia, Short stature, Hypogonadotropic hypogonadism, Hypogonadism, Delayed ... ORPHA:141333
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Ma... ORPHA:93111
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Distal renal tubular acidosis, Nephrocalcinosis OMIM:611590
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Nephrocalcinosis ORPHA:99879
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Blue Diaper Syndrome
Blue urine, Nephrocalcinosis ORPHA:94086
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size, Short stature ORPHA:93950
Cataract 9, Multiple Types
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Hypomagnesemia 3, Renal
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... OMIM:248250
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia, Cataract ORPHA:291
Neurofaciodigitorenal Syndrome
Intrauterine growth retardation, Short stature, Mandibular prognathia, Corneal dystrophy, Hypopla... ORPHA:2673
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Intrauterine growth retardation, Cataract ORPHA:2489
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Microphthalmia, Rhizomelia, Ambiguous genitalia, Cataract ORPHA:93267
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea, Short mandibular condyles, Hypopla... OMIM:264270
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... ORPHA:1505
Familial Median Cleft Of The Upper And Lower Lips
Abnormal mandible morphology, Abnormality of the maxilla ORPHA:401942
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Carious teeth, Micrognathia, Microcornea, Microphthalmia, Short stature, Cryptorchidism OMIM:616734
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... OMIM:300554
Holoprosencephaly 9
Microphthalmia, Short stature, Anophthalmia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Hypogonadism, Cataract, Cryptorchidism ORPHA:363741
Otodental Syndrome
Carious teeth, Lens coloboma, Microphthalmia, Pulp calcification, Abnormal dental enamel morpholo... ORPHA:2791
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia, Growth delay OMIM:278780
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Microvillus Inclusion Disease
Abnormal renal physiology, Nephrocalcinosis ORPHA:2290
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephropathy, Nephrocalcinosis OMIM:613404
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Seckel Syndrome 2
Hypospadias, Micrognathia, Microphthalmia, Growth delay, Short stature OMIM:606744
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Cryptorchidism, Decreased testicular size, Short stature ORPHA:85279
Pierpont Syndrome
Microcornea, Microphthalmia, Short stature, Malar flattening, Micropenis, Cryptorchidism OMIM:602342
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency, Severe short stature ORPHA:2278
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Cryptorchidism, Microphthalmia, Cataract OMIM:601794
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis OMIM:611087
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... OMIM:211900
Retinal Venous Beading
Retinal neovascularization, Abnormal distribution of retinal arterioles and venules, Retinal infa... OMIM:180080
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Bresek Syndrome
Microphthalmia, Intrauterine growth retardation, Growth delay, Optic nerve hypoplasia, Neonatal d... ORPHA:85284
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Micrognathia, Microphthalmia, Thyroid hypoplasia, Hypoplasia of the premaxilla, Ambi... ORPHA:2166
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Microcornea, Micrognathia, Microphthalmia, Short stature, Small scrotum, Abnormality... ORPHA:2505
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
2Q24 Microdeletion Syndrome
Cataract, Microphthalmia, Growth delay, Abnormality iris morphology ORPHA:1617
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis OMIM:610023
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephropathy, Nephrocalcinosis OMIM:208085
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Cataract ORPHA:1875
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Redu... OMIM:137920
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Pierpont Syndrome
Microcornea, Malar flattening, Cryptorchidism, Microphthalmia ORPHA:487825
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
3Mc Syndrome 2
Hypospadias, Cryptorchidism, Postnatal growth retardation, Prominence of the premaxilla OMIM:265050
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Supernumerary tooth, Multiple impacted teeth, Jaw swelling, Abnorma... ORPHA:83451
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis ORPHA:500533
Enamel-Renal Syndrome
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... ORPHA:1031
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla ORPHA:2412
Microphthalmia, Syndromic 5
Microcornea, Microphthalmia, Short stature, Anophthalmia, Optic nerve hypoplasia, Micropenis, Cat... OMIM:610125
Warburg Micro Syndrome 2
Microcornea, Hypoplastic labia majora, Developmental cataract, Microphthalmia, Micropenis, Postna... OMIM:614225
Eiken Syndrome
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... ORPHA:79106
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Triploidy
Hypospadias, Hepatomegaly, Micrognathia, Meningocele, Abnormality of the gallbladder, Intrauterin... ORPHA:3376
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodactyly, Micromelia, ... OMIM:251230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypercalciuria, Ureteral stenosis, Renal cyst, Nephrocalcinosis OMIM:615398
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia, Severe postnatal growth retardation, Corneal opacity, Cat... ORPHA:2399
Laurence-Moon Syndrome
Short stature, Congenital hepatic fibrosis, Iris coloboma, Displacement of the urethral meatus, C... ORPHA:2377
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly OMIM:609218
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Glycosuri... ORPHA:2088
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Micrognathia, Microphthalmia, Intrauterine growth retardation, Peters anomaly, Iris ... ORPHA:494344
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Intrauterine growth retardation, Small scrotum, Postnatal growth retardation, Cry... ORPHA:2728
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Skraban-Deardorff Syndrome
Micrognathia, Hyperplasia of the maxilla OMIM:617616
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microphthalmia, Anophthalmia, Sclerocornea, Rhizomelia, Cataract, Microcornea, Preco... OMIM:615877
Micro Syndrome
Hypoplastic labia minora, Microcornea, Micrognathia, Microphthalmia, Intrauterine growth retardat... ORPHA:2510
Congenital Rubella Syndrome
Hepatomegaly, Microphthalmia, Intrauterine growth retardation, Short stature, Aplasia/Hypoplasia ... ORPHA:290
Hypophosphatasia, Infantile
Phosphoethanolaminuria, Hypercalciuria, Elevated urine pyrophosphate, Nephrocalcinosis OMIM:241500
Aicardi Syndrome
Microphthalmia, Hepatoblastoma, Postnatal growth retardation, Spina bifida, Cataract, Precocious ... OMIM:304050
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Renal insufficiency, Nephrocalcinosis ORPHA:320
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Secondary growth hormone deficiency, Increased circulating gonadotropin level, Pri... ORPHA:2410
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Short stature, Azoospermia, Cataract, Retrognathia, Hypergonadotropic hypogonadism, Decreased res... ORPHA:280679
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism, Hypoplasia of penis ORPHA:1381
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Short stature, Abnormal testis morphology, Corneal opacity, C... ORPHA:317
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria ORPHA:157215
Baraitser-Winter Syndrome 1
Microphthalmia, Short stature, Iris coloboma, Micropenis, Postnatal growth retardation, Retrognat... OMIM:243310
Cataract-Intellectual Disability-Hypogonadism Syndrome
Micrognathia, Short stature, Hypogonadotropic hypogonadism, Malar flattening, Cataract, Cryptorch... ORPHA:1387
Axenfeld-Rieger Syndrome
Hypospadias, Growth delay, Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Hypoplasia of t... ORPHA:782
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Oculocerebrodental Syndrome
Nephrocalcinosis ORPHA:557003
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Lowry-Maclean Syndrome
Hypospadias, Abnormality of the abdominal organs, Micrognathia, Intrauterine growth retardation, ... ORPHA:2409
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Micrognathia, Microphthalmia OMIM:221950
Slc35A2-Cdg
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:356961
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Hypoplasia of penis, Microphthalmia ORPHA:2547
Trisomy 13
Microphthalmia, Intrauterine growth retardation, Abnormal morphology of female internal genitalia... ORPHA:3378
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Nephrocalcinosis ORPHA:445038
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... ORPHA:18
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Disproportionate short-limb short stature, Ambiguous genitalia, ... ORPHA:2772
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature, Iris coloboma ORPHA:195
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia, Iris coloboma OMIM:611638
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Microphthalmia, Cataract OMIM:214150
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Intrauterine growth retardation, Cataract, Elevated hepatic transaminase, Cryptorch... OMIM:618958
Nance-Horan Syndrome
Microphthalmia, Mandibular prognathia, Supernumerary tooth, Cataract, Microcornea ORPHA:627
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Senior-Loken Syndrome
Congenital hepatic fibrosis, Short stature, Cataract, Premature ovarian insufficiency ORPHA:3156
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Microcornea, Opacification of the corneal stroma, Mandibular prognathia, Anterior ch... OMIM:601499
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... ORPHA:1916
Aarskog-Scott Syndrome
Short stature, Delayed eruption of teeth, Megalocornea, Hypoplasia of the maxilla, Cryptorchidism... ORPHA:915
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Short stature OMIM:259610
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Microphthalmia, Short stature OMIM:612530
Meier-Gorlin Syndrome 4
Micrognathia, Intrauterine growth retardation, Short stature, Birth length less than 3rd percenti... OMIM:613804
Martsolf Syndrome 1
Micrognathia, Developmental cataract, Microphthalmia, Short stature, Hypogonadotropic hypogonadis... OMIM:212720
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Short stature OMIM:300915
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:2776
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Joubert Syndrome 37
Hepatomegaly, Microphthalmia, Short stature, Micropenis, Cryptorchidism, Decreased testicular size OMIM:619185
Microphthalmia With Brain And Digit Anomalies
Microcornea, Microphthalmia, Anophthalmia, Sclerocornea, Iris coloboma, Cataract, Cryptorchidism ORPHA:139471
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Azoospermia, Cataract, Retrognathia, Hypergonadotropic hypogonadism, Decreased res... OMIM:300845
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Postnatal growth retardation, Microphthalmia OMIM:609054
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Microphthalmia, Intrauterine growth retardation, Short stature, Rhizomelia, Hyperke... ORPHA:163966
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Hypoplastic nipples, Short stature, Labial hypoplasia, Catar... OMIM:211370
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cataract OMIM:120433
Matthew-Wood Syndrome
Microphthalmia, Intrauterine growth retardation, Annular pancreas, Anophthalmia, Aplasia/Hypoplas... ORPHA:2470
Aicardi Syndrome
Microphthalmia, Hepatoblastoma, Precocious puberty, Delayed puberty, Prominence of the premaxilla ORPHA:50
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract, Short stature OMIM:251270
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Microphthalmia, Growth delay, Anophthalmia, Sclerocornea, Iris coloboma, Cryptorchid... ORPHA:77298
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Cataract, Iris coloboma OMIM:212550
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Short stature, Polycystic ovaries, Cataract, Hypergonadotropic hypogonadism... ORPHA:3085
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Sanjad-Sakati Syndrome
Severe intrauterine growth retardation, Micrognathia, Congenital hypoparathyroidism, Hypoparathyr... ORPHA:2323
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... ORPHA:416
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Microcornea, Micrognathia, Persistent pupilla... OMIM:257850
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Microphthalmia, Cataract, Hypoplastic frontal sinuses OMIM:136760
Mend Syndrome
Cryptorchidism, Microretrognathia, Cataract, Short stature OMIM:300960
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Microphthalmia, Elevated hepatic transaminase, Jau... ORPHA:858
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Growth delay OMIM:274270
Adams-Oliver Syndrome 2
Micrognathia, Microphthalmia, Developmental cataract OMIM:614219
3-Methylglutaconic Aciduria, Type V
Hypospadias, Microvesicular hepatic steatosis, Intrauterine growth retardation, Postnatal growth ... OMIM:610198
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Postnatal growth retardation, Microphthalmia, Micrognathia OMIM:619135
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Retinal dystrophy, Disproportionate shortening of the tibia, Short ribs... OMIM:263520
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Microphthalmia OMIM:164180
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Bilateral microphthalmos, Postnatal growth retardation, Cervical spina bifida, Male... OMIM:600122
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis OMIM:156400
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microphthalmia, Pancreatitis, Hepatic steatosis, Elevated circulating alanine amino... OMIM:618805
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short stature OMIM:156510
Anterior Segment Dysgenesis 5
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris, Posterio... OMIM:604229
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Renal insufficiency OMIM:259900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Temtamy Syndrome
Micrognathia, Microphthalmia, Iris coloboma ORPHA:1777
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Cataract OMIM:613730
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... ORPHA:47159
Meier-Gorlin Syndrome 5
Micrognathia, Intrauterine growth retardation, Short stature, Birth length less than 3rd percenti... OMIM:613805
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Male hypogona... OMIM:240950
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia, Mandibular prognathia, Myopic astigmatism, Corneal opacity, Cataract, Astigmatism... OMIM:152950
Tetraamelia-Multiple Malformations Syndrome
Microcornea, Micrognathia, Microphthalmia, Septo-optic dysplasia, Iris coloboma, Vaginal atresia,... ORPHA:3301
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Microphthalmia, Ocular anterior segment dysgenesis ORPHA:324416
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Growth delay, Hepatic fibrosis, Cirrhosis, Cataract, Cholestasis OMIM:609313
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Micrognathia, Bifid scrotum, Dysmenorrhea, Intrauterine growth retardation, Abnormal... ORPHA:397590
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Intrauterine growth retardation, Severe short stature, Enamel hypoplasia, Cataract OMIM:251190
Martsolf Syndrome 2
Developmental cataract, Hypogonadotropic hypogonadism, Cataract, Short stature OMIM:619420
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Autosomal Dominant Keratitis
Microcornea, Hypoplasia of the fovea, Abnormality of the corneal limbus, Aniridia, Hypoplastic ir... ORPHA:2334
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Micrognathia, Mandibular prognathia, Optic nerve hypoplasia, Corneal opacity, Cataract, Cryptorch... ORPHA:496790
Marden-Walker Syndrome
Hypospadias, Micrognathia, Microphthalmia, Intrauterine growth retardation, Micropenis, Postnatal... OMIM:248700
Infantile Spasms-Broad Thumbs Syndrome
Micrognathia, Vaginal hernia, Cataract ORPHA:3173
Nanophthalmos
Microphthalmia ORPHA:35612
Hydrolethalus
Micrognathia, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology, Retrognathia, Cry... ORPHA:2189
Pde4D Haploinsufficiency Syndrome
Hypospadias, Micrognathia, Intrauterine growth retardation, Mandibular prognathia, Malar flatteni... ORPHA:439822
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia, Short stature, Corneal opacity ORPHA:2788
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Micrognathia, Intrauterine growth retardation, Intrahepatic biliary dysgenesis, Bru... OMIM:614866
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Micrognathia, Microphthalmia, Antecubital pterygium, Corneal opacity, Axilla... OMIM:619339
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Microphthalmia, Short stature, Dental malocclusion OMIM:617883
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Micrognathia, Bifid scrotum, Short stature, Malar flattening, Cataract, Dental malocclusion, Cryp... ORPHA:85321
Acrodysostosis
Short stature, Mandibular prognathia, Delayed eruption of teeth, Hypogonadism, Cryptorchidism, Hy... ORPHA:950
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Holoprosencephaly 7
Hypoplasia of the premaxilla, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma OMIM:610828
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta OMIM:601216
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia, Retrognathia OMIM:614583
Lujan-Fryns Syndrome
Macroorchidism, Hypoplasia of the maxilla, Micrognathia ORPHA:776
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Biliary tract abnormality, Microphthalmia, Short stature ORPHA:3191
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Growth delay, Retrognathia, Hypoplasia o... OMIM:234050
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Microphthalmia, Lenz Type
Hypospadias, Microcornea, Microphthalmia, Short stature, Delayed eruption of teeth, Iris coloboma... ORPHA:568
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Mosaic Trisomy 9
Micrognathia, Microphthalmia, Hypoplasia of penis, Asplenia, Intrauterine growth retardation, Abn... ORPHA:99776
Tyrosinemia, Type I
Renal Fanconi syndrome, Nephrocalcinosis, Glomerular sclerosis, Renal insufficiency, Elevated uri... OMIM:276700
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Rieger anomaly, Malar flattening, Hypoplasia of the maxilla, Abnormally prominent ... OMIM:109120
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Microphthalmia, Short stature, Hypogonadism, Cataract, Retrognathia, ... OMIM:601675
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Failure of eruption of permanent teeth, Anophthalmia, External genital hypoplasia... ORPHA:2250
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Short stature OMIM:619318
Autosomal Recessive Stickler Syndrome
Micrognathia, Short stature, Malar flattening, Cataract, Astigmatism ORPHA:250984
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
8Q21.11 Microdeletion Syndrome
Micrognathia, Microphthalmia, Sclerocornea, Corneal opacity, Iris hypopigmentation, Cataract, Cry... ORPHA:284160
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Male infertil... ORPHA:79239
Marshall-Smith Syndrome
Malar flattening, Short mandibular rami, Retrognathia, Umbilical hernia, Prominence of the premax... OMIM:602535
Cowden Syndrome 6
Micrognathia, Goiter, Varicocele, Cataract, Hypoplasia of the maxilla, Palmoplantar hyperkeratosi... OMIM:615109
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Microphthalmia, Short stature, Sclerocornea, Corneal dystrophy, Catar... ORPHA:1806
Hereditary Bullous Dystrophy, Macular Type
Growth delay, Short stature, External genital hypoplasia, Corneal opacity, Cataract, Cryptorchidi... ORPHA:1867
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93945
Ring Chromosome 10 Syndrome
Micrognathia, Microphthalmia, Intrauterine growth retardation ORPHA:1438
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Intrauterine growth retardation, Iris coloboma, Micrope... OMIM:244300
Cowden Syndrome 5
Micrognathia, Goiter, Cataract, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Ovarian c... OMIM:615108
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Mild postnatal growth retardation, Intrauterine growth retardation, Short stature, M... OMIM:101800
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Micrognathia, Intrauterine growth retardation, Hypoplasia of the thymus, Intrahepat... OMIM:214110
Galactosemia
Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Jaundice, Cirrhosis, Primary amenorrhea, Prem... ORPHA:352
Sandestig-Stefanova Syndrome
Developmental cataract, Intrauterine growth retardation, Microphthalmia, Retrognathia OMIM:618804
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hyperopic astigmatism ORPHA:397973
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature OMIM:608154
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Developmental cataract, Congenital hypoparathyroidism, Intrauterine growth retarda... ORPHA:93325
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening, Short stature ORPHA:261295
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Congenital megaureter, Rena... ORPHA:369837
Meckel Syndrome
Microcornea, Micrognathia, True hermaphroditism, Microphthalmia, Pancreatic cysts, Asplenia, Cyst... ORPHA:564
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Microphthalmia, Developmental cataract, Micropenis, De... ORPHA:335
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Carious teeth, Intrauterine growth retardation, Short stature, Narrow maxilla, Crypt... OMIM:617602
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla OMIM:618587
Vacterl With Hydrocephalus
Microcornea, Micrognathia, Microphthalmia, Intrauterine growth retardation, Anophthalmia, Abnorma... ORPHA:3412
Isolated Optic Nerve Hypoplasia/Aplasia
Growth delay, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Unil... ORPHA:137902
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... OMIM:227270
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism, Short stature, Malar flattening, Iris coloboma, Enamel hypoplasia, U... OMIM:618874
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
19Q13.11 Microdeletion Syndrome
Hypospadias, Microcornea, Bifid scrotum, Intrauterine growth retardation, Growth delay, Cataract,... ORPHA:217346
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Microphthalmia, Syndromic 3
Hypospadias, Microphthalmia, Short stature, Anophthalmia, Hypogonadotropic hypogonadism, Optic ne... OMIM:206900
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Iris hypopigmentation, Disproporti... ORPHA:85194
Tubular Renal Disease-Cardiomyopathy Syndrome
Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypermagnesiuria, Hypercalci... ORPHA:73224
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insufficiency, Hypercalciur... ORPHA:99880
Myhre Syndrome
Hypospadias, Abnormal penis morphology, Intrauterine growth retardation, Mandibular prognathia, E... ORPHA:2588
Nance-Horan Syndrome
Developmental cataract, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incis... OMIM:302350
Pseudopseudohypoparathyroidism
Short stature, Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism, Cataract OMIM:612463
Intellectual Disability-Strabismus Syndrome
Hypospadias, Micropenis, Medullary nephrocalcinosis ORPHA:363528
Gorlin Syndrome
Carious teeth, Mandibular prognathia, Hypogonadotropic hypogonadism, Iris coloboma, Cataract, Cry... ORPHA:377
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nephrocalcinosis OMIM:240300
Parathyroid Carcinoma
Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insufficiency, Hypercalciur... ORPHA:143
Rothmund-Thomson Syndrome, Type 2
Microcornea, Micrognathia, Microphthalmia, Short stature, Annular pancreas, Mandibular prognathia... OMIM:268400
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, Short stature, Mandibular prognathia, Cholelithiasis, Micropenis, Hypoplasia of the... OMIM:300534
Omodysplasia 1
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... OMIM:258315
Fanconi Anemia, Complementation Group G
Microphthalmia, Growth delay OMIM:614082
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Cryptorchidism, Microretrognathia, Short stature ORPHA:1307
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia, Peters anomaly OMIM:618652
Moebius Syndrome
Micrognathia, Microphthalmia, Hypogonadotropic hypogonadism, Micropenis, Decreased testicular size OMIM:157900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis OMIM:616084
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cataract ORPHA:90653
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia OMIM:601809
Microphthalmia With Limb Anomalies
Microphthalmia, Growth delay, Anophthalmia, Postnatal growth retardation, Retrognathia OMIM:206920
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Hypoplastic labia majora, Microphthalmia, Hypogonadotropic hypogonadism, Paranasal s... OMIM:603457
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Aniridia, Mandibular prognathia, Corneal dystrophy, Megalocornea, Hypoplasia of the... ORPHA:1101
Microcephaly 10, Primary, Autosomal Recessive
Micrognathia, Intrauterine growth retardation, Cataract OMIM:615095
Familial Tumoral Calcinosis
Nephrocalcinosis ORPHA:53715
Harrod Syndrome
Hypospadias, Intrauterine growth retardation, Cataract, Dental malocclusion, Cryptorchidism ORPHA:2115
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Intrauterine growth retardation, Small scrotum, Hypogonadism, Cryptorchidism ORPHA:228390
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Cowden Syndrome 1
Micrognathia, Goiter, Varicocele, Ovarian carcinoma, Cataract, Hypoplasia of the maxilla, Palmopl... OMIM:158350
Meier-Gorlin Syndrome 3
Hypospadias, Hypoplastic labia minora, Micrognathia, Intrauterine growth retardation, Short statu... OMIM:613803
Norrie Disease
Shallow anterior chamber, Microphthalmia, Hypoplasia of the iris, Cataract, Opacification of the ... OMIM:310600
Dubowitz Syndrome
Hypospadias, Carious teeth, Micrognathia, Microphthalmia, Intrauterine growth retardation, Hypopl... OMIM:223370
Saul-Wilson Syndrome
Micrognathia, Intrauterine growth retardation, Short stature, Postnatal growth retardation, Cataract OMIM:618150
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Carpenter Syndrome 1
Microcornea, Micrognathia, Opacification of the corneal stroma, Short stature, Polysplenia, Exter... OMIM:201000
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Zellweger Syndrome
Hypospadias, Hepatomegaly, Micrognathia, Short stature, Posterior embryotoxon, Brushfield spots, ... ORPHA:912
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... OMIM:601678
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Microphthalmia, Posterior embryotoxon, Microphakia, Sclerocorn... OMIM:612109
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis OMIM:618005
Jacobsen Syndrome
Hypospadias, Microcornea, Micrognathia, Microphthalmia, Intrauterine g