Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
short tibia Brd4tm1b(EUCOMM)Wtsi HET Early adult 1.24×10-06
abnormal retina inner nuclear layer morphology Brd4tm1b(EUCOMM)Wtsi HET   Early adult 3.14×10-07
preweaning lethality, complete penetrance Brd4tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased prepulse inhibition Brd4tm1b(EUCOMM)Wtsi HET Early adult 7.91×10-15
abnormal retina outer nuclear layer morphology Brd4tm1b(EUCOMM)Wtsi HET Early adult 1.30×10-38
embryonic lethality prior to organogenesis Brd4tm1b(EUCOMM)Wtsi HOM   E9.5 0.00
abnormal eye posterior chamber depth Brd4tm1b(EUCOMM)Wtsi HET Early adult 7.44×10-06
abnormal retina blood vessel morphology Brd4tm1b(EUCOMM)Wtsi HET Early adult 3.42×10-05
decreased total retina thickness Brd4tm1b(EUCOMM)Wtsi HET Early adult 3.05×10-22
increased grip strength Brd4tm1b(EUCOMM)Wtsi HET Early adult 8.33×10-07
abnormal cranium morphology Brd4tm1b(EUCOMM)Wtsi HET Early adult 9.08×10-06

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 2.04% (1 of 49)
axial skeleton 2.38% (1 of 42)
brain 1.74% (6 of 344)
central nervous system ganglion 2.17% (1 of 46)
cranium 0.0%
dorsal root ganglion 0.0%
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
external ear 2.13% (1 of 47)
eye 0.0%
femur pre-cartilage condensation 0.0%
footplate 0.28% (1 of 358)
forearm 0.0%
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
fronto-nasal process 2.13% (1 of 47)
gut 2.56% (1 of 39)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
head mesenchyme 2.5% (1 of 40)
heart 0.27% (1 of 366)
heart ventricle 0.0%
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
humerus pre-cartilage condensation 0.0%
inner ear 0.0%
intestine 2.33% (1 of 43)
liver 0.3% (1 of 338)
lower leg 0.0%
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
mesonephros of female 3.12% (1 of 32)
mesonephros of male 0.0%
metanephros 2.63% (1 of 38)
midbrain 0.28% (1 of 354)
nasal septum 2.13% (1 of 47)
nose 1.89% (1 of 53)
notochord 2.38% (1 of 42)
oral cavity 0.0%
outflow tract 0.0%
pancreas 2.44% (1 of 41)
pericardium 2.38% (1 of 42)
pharynx 2.78% (1 of 36)
radius-ulna pre cartilage condensation 2.33% (1 of 43)
rib pre-cartilage condensation 2.44% (1 of 41)
skeleton 1.79% (1 of 56)
skin 0.29% (1 of 348)
spinal cord 0.0%
stomach 0.0%
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
tongue 2.38% (1 of 42)
trachea 2.17% (1 of 46)
trunk mesenchyme 2.86% (1 of 35)
umbilical artery embryonic part 0.0%
umbilical vein embryonic part 0.0%
upper arm 0.48% (1 of 210)
upper leg 0.49% (1 of 204)
urinary system 0.0%
vibrissa 0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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.

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
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Blue Diaper Syndrome
Nephrocalcinosis OMIM:211000
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis 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
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Retrognathia, Microcornea, Cataract, Microphthalmia, Growth delay, Hypogonadism ORPHA:2528
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria OMIM:239199
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury ORPHA:33111
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis OMIM:614473
Renal Tubular Acidosis Iii
Nephrolithiasis, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Low-molecular-weight proteinuria, Hypercalciuria, Proximal... OMIM:300555
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Paget Disease Of Bone 6
Nephrocalcinosis OMIM:616833
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting ORPHA:564178
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Distal renal tubular acidosis, Nephrocalcinosis, Impaired urinary acidification OMIM:179800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Micrognathia, Microcornea, Cataract, Microphthalmia, Intrauterine growth retardation OMIM:616171
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Spastic Paraparesis And Deafness
Short stature, Cataract, Hypogonadism OMIM:312910
Faciothoracogenital Syndrome
Prominent scrotal raphe, Micrognathia, Glandular hypospadias, Shawl scrotum, Microphthalmia OMIM:227320
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Intrauterine growth retardation, Microphthalmia OMIM:616570
Mmep Syndrome
Mandibular prognathia, Cryptorchidism, Microphthalmia ORPHA:3434
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Cofs Syndrome
Short stature, Micrognathia, Hypogonadism, Cataract, Microphthalmia, Intrauterine growth retardation ORPHA:1466
Microphthalmia, Syndromic 12
Bicornuate uterus, Retrognathia, Micrognathia, Anophthalmia, Microphthalmia, Cryptorchidism OMIM:615524
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Distal renal tubular acidosis, Nephrocalcinosis, Hypercalciuria OMIM:602722
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Micrognathia, Cataract, Developmental cataract, Microphthalmia, Growth delay, Intraut... OMIM:610756
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Micrognathia, Microcornea, Cataract, Microphthalmia... ORPHA:48431
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Hypercalcemia, Infantile, 1
Nephrolithiasis, Polyuria, Nephrocalcinosis, Hypercalciuria OMIM:143880
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
External genital hypoplasia, Short stature, Retrognathia, Cataract, Postnatal growth retardation,... OMIM:612947
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Ambiguous genitalia, female, Micrognathia, Primary amenorrhea, Fuse... ORPHA:2975
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Hepatomegaly, Microcornea, Microphthalmia ORPHA:2432
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Retinal deta... OMIM:607143
Warburg Micro Syndrome 1
External genital hypoplasia, Short stature, Micrognathia, Microcornea, Developmental cataract, Mi... OMIM:600118
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Short stature, Prominence of the premaxilla, Hepatic failure, Abnormality of the ... OMIM:614886
Orofaciodigital Syndrome Ix
Retinal coloboma, Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Wagr Syndrome
Short stature, Micrognathia, Ambiguous genitalia, Cataract, Displacement of the urethral meatus, ... ORPHA:893
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis OMIM:204690
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Microphthalmia, Syndromic 8
Mandibular prognathia, Cryptorchidism, Microcornea, Microphthalmia OMIM:601349
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-... OMIM:300009
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis OMIM:615633
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... ORPHA:93598
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... ORPHA:93111
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Decreased glomerular filtration rate OMIM:601198
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... OMIM:146255
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Recurrent urinary tract infection... OMIM:248190
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Nephrocalcinosis, Renal insufficiency, Hypercalciuria ORPHA:99879
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Distal renal tubular acidosis, Isothenuria, Nephrocalcinosis OMIM:611590
Biemond Syndrome Type 2
Microphthalmia, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypog... ORPHA:141333
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine ORPHA:94086
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size, Short stature ORPHA:93950
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Warburg Micro Syndrome 3
Shallow anterior chamber, Micropenis, Micrognathia, Microcornea, Hypoplastic labia minora, Catara... OMIM:614222
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis OMIM:146200
Congenital Varicella Syndrome
Intrauterine growth retardation, Cataract, Microphthalmia ORPHA:291
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Renal tubular acidosis, Polyuria,... OMIM:248250
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Intrauterine growth retardation, Cataract ORPHA:2489
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Cataract, Microphthalmia, Cryptorchidism, Hypogonadism ORPHA:363741
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Ambiguous genitalia, Rhizomelia, Cataract, Microphthalmia ORPHA:93267
Familial Median Cleft Of The Upper And Lower Lips
Abnormality of the maxilla, Abnormal mandible morphology ORPHA:401942
Pseudohermaphroditism, Female, With Skeletal Anomalies
Primary amenorrhea, Short mandibular condyles, Ambiguous genitalia, Clitoral hypertrophy, Hypopla... OMIM:264270
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Otodental Syndrome
Taurodontia, Abnormal molar morphology, Delayed eruption of teeth, Pulp calcification, Carious te... ORPHA:2791
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Low-molecular-weight proteinuri... OMIM:300554
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... OMIM:180080
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Proteinuria, Nephrocalcinosis OMIM:613404
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Short stature, Corneal dystrophy, Mandibular prognathia, Cryptorchi... ORPHA:2673
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Cataract, Microphthalmia OMIM:278780
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Seckel Syndrome 2
Short stature, Hypospadias, Micrognathia, Microphthalmia, Growth delay OMIM:606744
Holoprosencephaly 9
Dental malocclusion, Hypoplasia of the premaxilla, Decreased response to growth hormone stimulati... OMIM:610829
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Astigmatism, Hyperplasia of the premaxilla, Mandibular ... OMIM:614753
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... OMIM:193230
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis OMIM:616026
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Microphthalmia, Cataract, Hypogonadism OMIM:601794
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Pierpont Syndrome
Malar flattening, Short stature, Micropenis, Microcornea, Microphthalmia, Cryptorchidism OMIM:602342
2Q24 Microdeletion Syndrome
Growth delay, Abnormality iris morphology, Cataract, Microphthalmia ORPHA:1617
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Cryptorchidism, Hypoplasia of the maxilla, Decreased testicular size, Short stature ORPHA:85279
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis OMIM:611087
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hyperphosphaturia OMIM:613312
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Bresek Syndrome
Optic nerve hypoplasia, Neonatal death, Iris coloboma, Decreased testicular size, Microphthalmia,... ORPHA:85284
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph... OMIM:211900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedullary differentiation, Am... OMIM:208085
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia OMIM:610023
Microphthalmia With Limb Anomalies
Optic atrophy, Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th fin... ORPHA:1106
Trichothiodystrophy 3, Photosensitive
Short stature, Carious teeth, Cataract, Developmental cataract, Natal tooth, Microphthalmia, Bila... OMIM:616395
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis ORPHA:500533
Warburg Micro Syndrome 2
Microphthalmia, Micropenis, Microcornea, Cataract, Developmental cataract, Hypoplastic labia majo... OMIM:614225
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Hypoplasia of penis, Encephalocele, Hypospadias, Micrognathia, Ambi... ORPHA:2166
Pierpont Syndrome
Cryptorchidism, Microcornea, Malar flattening, Microphthalmia ORPHA:487825
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi... ORPHA:1031
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract, Microphthalmia OMIM:610092
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Hypospadias, Micrognathia, Microcornea, Umbilical hernia, Microphthalmia, Cryptorc... ORPHA:2505
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas defer... OMIM:137920
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Microphthalmia OMIM:609218
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla ORPHA:2412
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Micrognathia, Astigmatism, Peters anomaly, Iris coloboma, Microphthalmia, Postnatal ... ORPHA:494344
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal cementum morphology, Supernumerary tooth,... ORPHA:83451
Microphthalmia, Syndromic 5
Short stature, Micropenis, Optic nerve hypoplasia, Anophthalmia, Microcornea, Ectopic posterior p... OMIM:610125
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
3Mc Syndrome 2
Hypospadias, Cryptorchidism, Postnatal growth retardation, Prominence of the premaxilla OMIM:265050
Triploidy
Aplasia/Hypoplasia affecting the eye, Hepatomegaly, Hypoplasia of penis, Hypospadias, Micrognathi... ORPHA:3376
Fanconi-Bickel Syndrome
Renal tubular acidosis, Nephropathy, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Hyper... ORPHA:2088
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria OMIM:615398
Laurence-Moon Syndrome
Hypoplasia of penis, Short stature, Congenital hepatic fibrosis, Iris coloboma, Cataract, Displac... ORPHA:2377
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Microphthalmia, Postnatal growth retardation, Hypoplasia of teeth, Intrauterine g... ORPHA:2728
Micro Syndrome
Hypoplasia of penis, Short stature, Micrognathia, Clitoral hypoplasia, Microcornea, Hypoplastic l... ORPHA:2510
Skraban-Deardorff Syndrome
Micrognathia, Hyperplasia of the maxilla OMIM:617616
Premature Ovarian Failure 12
Primary amenorrhea, Microphthalmia OMIM:616947
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary growth hormone defic... ORPHA:2410
Congenital Rubella Syndrome
Corneal opacity, Hepatomegaly, Jaundice, Short stature, Splenomegaly, Cataract, Microphthalmia, A... ORPHA:290
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Hypercalciuria, Nephrocalcinosis, Phosphoethanolaminuria OMIM:241500
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Warburg Micro Syndrome 4
Short stature, Micropenis, Severe postnatal growth retardation, Microcornea, Developmental catara... OMIM:615663
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Hypospadias, Micrognathia, Microcornea, Carious teeth, Microphthalmia, Cryptorchid... OMIM:616734
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency ORPHA:320
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Medullary nephrocalcinosis, Hyperphosphaturia, Hypercalciuria ORPHA:157215
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Erythrokeratodermia Variabilis
Corneal opacity, Short stature, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cataract, Abn... ORPHA:317
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... ORPHA:280679
Cataract-Intellectual Disability-Hypogonadism Syndrome
Malar flattening, Short stature, Hypogonadotropic hypogonadism, Micrognathia, Cataract, Cryptorch... ORPHA:1387
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Baraitser-Winter Syndrome 1
Short stature, Retrognathia, Micropenis, Iris coloboma, Microphthalmia, Postnatal growth retardat... OMIM:243310
Aicardi Syndrome
Precocious puberty, Hepatoblastoma, Prominence of the premaxilla, Cataract, Microphthalmia, Postn... OMIM:304050
Axenfeld-Rieger Syndrome
Abnormal anterior chamber morphology, Hypospadias, Posterior embryotoxon, Hypoplasia of the maxil... ORPHA:782
Oculocerebrodental Syndrome
Nephrocalcinosis ORPHA:557003
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency ORPHA:445038
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Anophthalmia, Microphthalmia OMIM:221950
Lowry-Maclean Syndrome
Intrauterine growth retardation, Corneal opacity, Abnormality of the abdominal organs, Retrognath... ORPHA:2409
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Hypoplasia of penis, Microphthalmia ORPHA:2547
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Trisomy 13
Malar flattening, Anophthalmia, Abnormal morphology of female internal genitalia, Iris coloboma, ... ORPHA:3378
Slc35A2-Cdg
Talipes equinovarus, Short tibia, Aplasia/hypoplasia involving bones of the extremities, Camptoda... ORPHA:356961
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Cat-Eye Syndrome
Microphthalmia, Intrauterine growth retardation, Iris coloboma, Short stature ORPHA:195
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Hypoplasia of penis, Ambiguous genitalia, Cataract, Cr... ORPHA:2772
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Nance-Horan Syndrome
Supernumerary tooth, Microcornea, Cataract, Microphthalmia, Mandibular prognathia ORPHA:627
Developmental Delay With Variable Neurologic And Brain Abnormalities
Micrognathia, Astigmatism, Cataract, Microphthalmia OMIM:619694
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Short stature OMIM:300915
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated hepatic transaminase, Cataract, Cryptorchidism, Intrauterine growth retard... OMIM:618958
Distal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei... ORPHA:18
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Cranium bifidum occultum, Hypoplasia of the maxilla, Cataract, Micro... OMIM:136760
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Delayed eruption of teeth, Carious teeth, Cataract, Microphthalmia, Cryptorchidism OMIM:214150
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Hypopl... OMIM:601499
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Short stature OMIM:259610
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Cryptorchidism, Sclerocornea ORPHA:139471
Aarskog-Scott Syndrome
Short stature, Megalocornea, Delayed eruption of teeth, Hypoplasia of the maxilla, Shawl scrotum,... ORPHA:915
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Microphthalmia ORPHA:1473
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hydrolethalus
Retrognathia, Micrognathia, Anencephaly, Arrhinencephaly, Anophthalmia, Abnormal fallopian tube m... ORPHA:2189
Joubert Syndrome 37
Hepatomegaly, Short stature, Micropenis, Decreased testicular size, Microphthalmia, Cryptorchidism OMIM:619185
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Megalocornea, Opacification of the co... OMIM:164900
Meier-Gorlin Syndrome 4
Short stature, Micrognathia, Birth length less than 3rd percentile, Breast hypoplasia, Hypoplasia... OMIM:613804
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:2776
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalmia ORPHA:324416
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Anophthalmia, Iris coloboma, Microphthalmia, Growth delay, Cryp... ORPHA:77298
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia OMIM:120433
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Micrognathia, Rhizomelia, Hyperkeratosis, Microphthalmia, Intrauterine growth reta... ORPHA:163966
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... OMIM:300845
Adams-Oliver Syndrome 2
Micrognathia, Developmental cataract, Microphthalmia OMIM:614219
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Hypospadias, Decreased testicular size, Postnatal growth retard... OMIM:610198
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract, Short stature OMIM:251270
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Cataract, Microphthalmia OMIM:212550
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Retinal dystrophy, Postaxial hand po... OMIM:263520
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Labial hypoplasia, Short stature, Opacification of the corneal stroma, Hypoplastic nipples, Hypop... OMIM:211370
Congenital Toxoplasmosis
Intrauterine growth retardation, Hepatomegaly, Elevated hepatic transaminase, Microphthalmia, Jau... ORPHA:858
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Primary Hyperoxaluria
Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalciuria, Aciduria, Hyp... ORPHA:416
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Severe postnatal growth retardation, Cataract, Hypoplasia of the maxilla, Bilate... ORPHA:2399
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating... OMIM:240950
Ritscher-Schinzel Syndrome 3
Micrognathia, Cryptorchidism, Postnatal growth retardation, Microphthalmia OMIM:619135
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Persistent pupillary mem... OMIM:257850
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, A... ORPHA:2470
Sanjad-Sakati Syndrome
Hypoparathyroidism, Severe intrauterine growth retardation, Aplasia/Hypoplasia affecting the eye,... ORPHA:2323
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Cataract... OMIM:618805
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Cervical spina bifida, Male pseudohermaphroditism, Bilateral microphthalmos, Postna... OMIM:600122
Mend Syndrome
Cryptorchidism, Microretrognathia, Cataract, Short stature OMIM:300960
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Nephrocalcinosis, Hypercalciuria OMIM:156400
Aicardi Syndrome
Precocious puberty, Hepatoblastoma, Prominence of the premaxilla, Delayed puberty, Microphthalmia ORPHA:50
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Hypoplasia of the fovea, Microcornea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Temtamy Syndrome
Micrognathia, Iris coloboma, Microphthalmia ORPHA:1777
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Cryptorchidism, Hypogonadism, Encephalocele, Intrauterine growth retardation, Sma... ORPHA:228390
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short stature OMIM:156510
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Nanophthalmos
Microphthalmia ORPHA:35612
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract, Microphthalmia, Mandibul... OMIM:152950
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cataract, Hepatomegaly OMIM:613730
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Micrognathia, Optic nerve hypoplasia, Cataract, Delayed puberty, Mandibular prog... ORPHA:496790
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Microcornea, Iris coloboma, Cataract, Septo-optic dysplasia, Microphthalmia, Vagina... ORPHA:3301
Proximal Renal Tubular Acidosis
Nephrolithiasis, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tubulopathy, Low-mol... ORPHA:47159
Kniest Dysplasia
Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Flared metaphysis, Retinal detachment,... OMIM:156550
Marden-Walker Syndrome
Micropenis, Hypospadias, Micrognathia, Microphthalmia, Postnatal growth retardation, Cryptorchidi... OMIM:248700
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia, Isosexual precocious puberty, Short stature ORPHA:2788
Fanconi Anemia, Complementation Group S
Dental malocclusion, Microphthalmia, Ovarian neoplasm, Short stature OMIM:617883
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Baraitser-Winter Syndrome 2
Retrognathia, Microphthalmia, Short stature OMIM:614583
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Malar flattening, Hypospadias, Micrognathia, Hypoplasia of the maxi... ORPHA:439822
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Meckel Syndrome
Urethral atresia, Encephalocele, Pancreatic fibrosis, Male pseudohermaphroditism, Micrognathia, A... ORPHA:564
Acrodysostosis
Short stature, Irregular menstruation, Delayed eruption of teeth, Abnormality of female external ... ORPHA:950
Marshall-Smith Syndrome
Microretrognathia, Short mandibular rami, Retrognathia, Prominence of the premaxilla, Short statu... OMIM:602535
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Mirror image foot polyda... OMIM:119800
Silver-Russell Syndrome Due To A Point Mutation
Dysmenorrhea, Bifid scrotum, Hypospadias, Micrognathia, Small placenta, Postnatal growth retardat... ORPHA:397590
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia, Micropenis OMIM:308350
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:259900
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Mandibular prognathia, Hypoplasia of the maxilla, Short stature OMIM:601216
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Biliary tract abnormality, Microphthalmia, Short stature ORPHA:3191
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... ORPHA:1988
Mosaic Trisomy 9
Corneal opacity, Hypoplasia of penis, Abnormal liver lobulation, Micrognathia, Abnormal fallopian... ORPHA:99776
Intellectual Disability-Strabismus Syndrome
Medullary nephrocalcinosis, Hypospadias, Micropenis ORPHA:363528
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia OMIM:615297
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Short stature OMIM:619318
Martsolf Syndrome 1
Micropenis, Short stature, Hypogonadotropic hypogonadism, Micrognathia, Hypoplasia of the maxilla... OMIM:212720
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microcornea, Hyperkeratosis, Cataract, Corneal dystrophy, Microphthalmia, Keratoco... ORPHA:1806
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Retrognathia, Microcornea, Microphthalmia, Hypoplasia of teeth, Keratoconjunctiviti... OMIM:234050
Lujan-Fryns Syndrome
Micrognathia, Hypoplasia of the maxilla, Macroorchidism ORPHA:776
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
8Q21.11 Microdeletion Syndrome
Corneal opacity, Hypoplasia of penis, Micrognathia, Iris hypopigmentation, Cataract, Microphthalm... ORPHA:284160
Bartsocas-Papas Syndrome 2
Corneal opacity, Microphthalmia, Micrognathia, Popliteal pterygium, Axillary pterygium, Antecubit... OMIM:619339
Microphthalmia, Lenz Type
Short stature, Hypospadias, Delayed eruption of teeth, Microcornea, Iris coloboma, Cataract, Micr... ORPHA:568
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of penis, External genital hypoplasia, Failure of eruption of permanen... ORPHA:2250
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Micrognathia, Cataract, Microphthalmia, Growth delay, Cryptorchidism, Sclerocornea OMIM:614230
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla OMIM:618587
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Disproportionate short-limb short stature, Decreased growth hormone response... OMIM:101800
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Renal Fanconi syndrome, Organic aciduria, Proximal tubulopathy, M... OMIM:619743
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Hypoplasia of penis, Malar flattening, Bifid scrotum, Short stature, Microgn... ORPHA:85321
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Micrognathia, Palmoplantar hyperkeratosis, Varicocele, Hypoplasia... OMIM:615109
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, External genital hypoplasia, Short stature, Cataract, Decreased testicular size,... ORPHA:1867
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Malar flattening, Short stature, Abnormally prominent line of Schwalbe, Rieger anomaly, Hypoplasi... OMIM:109120
Kapur-Toriello Syndrome
Micropenis, Iris coloboma, Cataract, Microphthalmia, Cryptorchidism, Intrauterine growth retardat... OMIM:244300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Malar flattening, Short stature, Hypospadias, Unilateral microphthalmos, Enamel hypoplasia, Iris ... OMIM:618874
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea OMIM:269400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Jaundice, Splenomegaly, Micrognathia, Hepatosplenomegaly, Opacification of the corn... OMIM:614866
Sandestig-Stefanova Syndrome
Retrognathia, Intrauterine growth retardation, Developmental cataract, Microphthalmia OMIM:618804
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93945
Omodysplasia 1
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... OMIM:258315
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Micrognathia, Palmoplantar hyperkeratosis, Hypoplasia of the maxi... OMIM:615108
Congenital Fibrinogen Deficiency
Micropenis, Hemorrhagic ovarian cyst, Developmental cataract, Decreased testicular size, Micropht... ORPHA:335
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Ring Chromosome 10 Syndrome
Micrognathia, Intrauterine growth retardation, Microphthalmia ORPHA:1438
Vacterl With Hydrocephalus
Retrognathia, Micrognathia, Anophthalmia, Arrhinencephaly, Microcornea, Abnormal fallopian tube m... ORPHA:3412
Autosomal Dominant Kenny-Caffey Syndrome
Growth delay, Persistence of primary teeth, Postnatal growth retardation, Short stature, Congenit... ORPHA:93325
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Growth... ORPHA:137902
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hyperopic astigmatism, Hypoplasia of the maxilla ORPHA:397973
Meier-Gorlin Syndrome 5
Micropenis, Short stature, Micrognathia, Birth length less than 3rd percentile, Hypoplasia of the... OMIM:613805
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Intrauterine growth retardation, Hypoplasia of the maxilla, Short stature OMIM:608154
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening, Short stature ORPHA:261295
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... OMIM:228300
Trichothiodystrophy 1, Photosensitive
Short stature, Retrognathia, Microcornea, Hyperkeratosis, Cataract, Microphthalmia, Keratoconjunc... OMIM:601675
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Renal dysplasia, Renal ... ORPHA:369837
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Bartter Syndrome Type 4
Hyperprostaglandinuria, Chronic kidney disease, Impaired renal concentrating ability, Increased u... ORPHA:89938
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Short stature, Hypospadias, Carious teeth, Narrow maxilla, Intrauterine growth re... OMIM:617602
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Bifid scrotum, Retrognathia, Hypospadias, Microcornea, Cataract, Growth del... ORPHA:217346
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Jaundice, Micrognathia, Hypoplasia of the thymus, Opacification of the corneal stro... OMIM:214110
Moebius Syndrome
Micropenis, Hypogonadotropic hypogonadism, Micrognathia, Decreased testicular size, Microphthalmia OMIM:157900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Myhre Syndrome
Precocious puberty, Severe short stature, External genital hypoplasia, Abnormal penis morphology,... ORPHA:2588
Spondylo-Ocular Syndrome
Short stature, Aplasia/Hypoplasia of the lens, Disproportionate short-trunk short stature, Iris h... ORPHA:85194
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Nance-Horan Syndrome
Mulberry molar, Screwdriver-shaped incisors, Microcornea, Posterior Y-sutural cataract, Supernume... OMIM:302350
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Bilateral cryptorchidism, Microphthalmia OMIM:618652
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Abnormal renal tubular resorption, Hypercalciuria, Hypermagnesiuria, Neph... ORPHA:73224
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficiency, Renal hamartoma... ORPHA:99880
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Holoprosencephaly 7
Hypoplasia of the premaxilla, Panhypopituitarism, Bilateral microphthalmos, Iris coloboma OMIM:610828
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria OMIM:616084
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Supernumerary tooth, Microphthalmia, Zonular cataract, Short stature, Micrognat... OMIM:268400
Parathyroid Carcinoma
Nephrolithiasis, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficiency, Renal hamartoma... ORPHA:143
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nephrocalcinosis OMIM:240300
Microphthalmia, Syndromic 3
Optic nerve aplasia, Micropenis, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Optic... OMIM:206900
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cataract ORPHA:90653
Lissencephaly 8
Occipital encephalocele, Cataract, Microphthalmia OMIM:617255
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias, Ectopia pupillae, Anophthalmia, Microcornea, Rhizomelia, Catarac... OMIM:615877
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Corneal opacity, Hypoplasia of the maxilla OMIM:166300
Spondylospinal Thoracic Dysostosis
Micrognathia, Multiple pterygia, Hypoplasia of the maxilla OMIM:601809
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Megalocornea, Anophthalmia, Hypoplasia of the maxilla, Umbilical hernia, Corneal dystrophy, Mandi... ORPHA:1101
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Micropenis, Short stature, Micrognathia, Hypoplasia of the maxilla, Decreased tes... OMIM:300534
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Hypoplasia of the maxilla, Microretrognathia, Short stature ORPHA:1307
Microphthalmia With Limb Anomalies
Growth delay, Retrognathia, Anophthalmia, Microphthalmia, Postnatal growth retardation OMIM:206920
Carpenter Syndrome 1
Precocious puberty, Persistence of primary teeth, External genital hypoplasia, Malar flattening, ... OMIM:201000
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Microphthalmia, Poste... OMIM:610256
Frontorhiny
Basal encephalocele, Encephalocele, Hypoplastic frontal sinuses, Iris coloboma, Cranium bifidum o... ORPHA:391474
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Micrognathia, Palmoplantar hyperkeratosis, Varicocele, Hypoplasia... OMIM:158350
Harrod Syndrome
Dental malocclusion, Hypospadias, Cataract, Cryptorchidism, Intrauterine growth retardation ORPHA:2115
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Micrognathia, Umbilical hernia, Microphthalmia, Mandibular prognathia, Lens coloboma OMIM:618914
Familial Tumoral Calcinosis
Nephrocalcinosis ORPHA:53715
Bosma Arhinia Microphthalmia Syndrome
Dental malocclusion, Paranasal sinus hypoplasia, Micropenis, Hypogonadotropic hypogonadism, Hypos... OMIM:603457
Aarskog-Scott Syndrome
Testicular atrophy, Cryptorchidism, Short stature, Elevated circulating luteinizing hormone level... OMIM:305400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Bilateral microphthalmos, Umbilical hernia, Ocular anterior segment dysgenesis, Ma... ORPHA:369891
Gracile Bone Dysplasia
Short stature, Micropenis, Hypoplastic spleen, Microphthalmia, Aniridia, Asplenia OMIM:602361
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Mild postnat... ORPHA:456312
Oculoauricular Syndrome
Microphakia, Microphthalmia, Phthisis bulbi, Short mandibular rami, Posterior embryotoxon, Microc... OMIM:612109
Frontofacionasal Dysplasia
Short stature, Limbal dermoid, Microcornea, Iris coloboma, Cataract, Brushfield spots, Microphtha... ORPHA:1791
Cousin Syndrome
Ambiguous genitalia, female, Ambiguous genitalia, male, Micrognathia, Microcornea, Rhizomelia, Mi... OMIM:260660
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis OMIM:618005
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Cohen Syndrome
Short stature, Micrognathia, Hypoplasia of the zygomatic bone, Iris coloboma, Hypoplasia of the m... ORPHA:193
Congenital Disorder Of Glycosylation, Type Ij
Micrognathia, Elevated hepatic transaminase, Cataract, Cryptorchidism, Jaundice OMIM:608093
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Bartter Syndrome, Type 1, Antenatal
Hyperprostag