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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
preweaning lethality, complete penetrance Brd4tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased prepulse inhibition Brd4tm1b(EUCOMM)Wtsi HET Early adult 7.69×10-15
abnormal retina inner nuclear layer morphology Brd4tm1b(EUCOMM)Wtsi HET   Early adult 2.13×10-07
short tibia Brd4tm1b(EUCOMM)Wtsi HET Early adult 1.24×10-06
abnormal cranium morphology Brd4tm1b(EUCOMM)Wtsi HET Early adult 9.08×10-06
decreased total retina thickness Brd4tm1b(EUCOMM)Wtsi HET Early adult 1.71×10-22
increased grip strength Brd4tm1b(EUCOMM)Wtsi HET Early adult 1.57×10-06
abnormal retina blood vessel morphology Brd4tm1b(EUCOMM)Wtsi HET Early adult 3.32×10-05
abnormal eye posterior chamber depth Brd4tm1b(EUCOMM)Wtsi HET Early adult 1.14×10-05
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

Download data as:  TSV  XLS

Select physiological systems to view:
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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 1.17% (6 of 511)
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 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
heart ventricle 1.67% (1 of 60)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
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 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
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 511)
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 506)
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 511)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
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 right eye

16 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Eye Morphology

VIP of left fundus

16 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
Embryo LacZ

LacZ images wholemount

4 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
Primary amenorrhea, Short stature, Delayed eruption of teeth, Micrognathia, Hypoplasia of penis, ... 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, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Blue Diaper Syndrome
Nephrocalcinosis OMIM:211000
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria OMIM:260000
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Medullary nephrocalcinosis, Polyuria, Nephrocalcinosis, Hypercalciuria OMIM:616963
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Leydig Cell Hypoplasia
Primary amenorrhea, Testicular gonadoblastoma, Ambiguous genitalia, Female hypogonadism, Hyoplasi... ORPHA:755
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Hypogonadism, Short stature, Microcornea, Cataract, Microphthalmia, Growth delay ORPHA:2528
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Hypercalcemia, Infantile, 1
Medullary nephrocalcinosis, Polyuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria OMIM:143880
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria OMIM:239199
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis ORPHA:33111
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Renal Tubular Acidosis Iii
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Paget Disease Of Bone 6
Nephrocalcinosis OMIM:616833
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... OMIM:300555
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting ORPHA:564178
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Microphthalmia, Syndromic 12
Retrognathia, Anophthalmia, Wide nasal bridge, Bicornuate uterus, Micrognathia, Broad nasal tip, ... OMIM:615524
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Cofs Syndrome
Wide nasal bridge, Hypogonadism, Abnormal nasal morphology, Micrognathia, Short stature, Cataract... ORPHA:1466
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Nephrocalcinosis, Nephrolithiasis, Distal renal tubular acidosis OMIM:179800
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Spastic Paraparesis And Deafness
Cataract, Short stature, Hypogonadism OMIM:312910
Cerebrooculofacioskeletal Syndrome 2
Convex nasal ridge, Prominent nose, Micrognathia, Developmental cataract, Cataract, Microphthalmi... OMIM:610756
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Mmep Syndrome
Mandibular prognathia, Microphthalmia, Cryptorchidism ORPHA:3434
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Hypercalciuria, Distal renal tubular acidosis OMIM:602722
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Micrognathia, Malar prominence, Microcornea, Cataract, Microphthalmia, Hypogonadot... ORPHA:48431
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Mandibular condyle hypoplasia, Ambiguous genitalia, female, Hypop... ORPHA:2975
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Short stature, Micrognathia, Microcornea, Cataract, Microphthalmia, Intrauterine ... OMIM:616171
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Warburg Micro Syndrome 1
Wide nasal bridge, Short stature, External genital hypoplasia, Micrognathia, Developmental catara... OMIM:600118
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:104200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Prominent nose, Wide nasal bridge, Short stature, Abnormality of the male genita... OMIM:614886
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microphthalmia, Intrauterine growth retardation OMIM:616570
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Corneal opacity, Hepatomegaly, Microcornea ORPHA:2432
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly, Retinal coloboma OMIM:258865
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Retinal d... OMIM:607143
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency OMIM:204690
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hyperphosphaturia, Renal insufficiency, Hypercalciuria ORPHA:99879
Wagr Syndrome
Ambiguous genitalia, Short stature, Aplasia/Hypoplasia of the iris, Micrognathia, Cataract, Crypt... ORPHA:893
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... OMIM:248190
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... ORPHA:2756
Microphthalmia, Syndromic 8
Microphthalmia, Mandibular prognathia, Cryptorchidism, Microcornea OMIM:601349
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... OMIM:300009
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Prominence of the premaxilla, Short nose, Broad nasal tip, Anteverted nares OMIM:137550
Primary Hyperoxaluria Type 1
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, He... ORPHA:93598
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Mandibular prognathia, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas phys... ORPHA:93111
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypercalciuria OMIM:601198
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis OMIM:615633
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... OMIM:146255
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia, Hepatomegaly, Cryptorchidism, Neonatal death OMIM:613730
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... OMIM:193220
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Isothenuria, Distal renal tubular acidosis OMIM:611590
Biemond Syndrome Type 2
Hypogonadism, Short stature, Hypospadias, Delayed puberty, Microphthalmia, Hypogonadotropic hypog... ORPHA:141333
Wilson-Turner Syndrome
Short stature, Micrognathia, Malar prominence, Cataract, Broad nasal tip, Cryptorchidism, Hypogon... ORPHA:3459
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract OMIM:604219
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine ORPHA:94086
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Rhizomelia, Wide nasal bridge, Micrognathia, Cataract, Microphthalmia ORPHA:93267
Otodental Syndrome
Abnormal molar morphology, Delayed eruption of teeth, Pulp calcification, Taurodontia, Microcorne... ORPHA:2791
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased testicular size, Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93950
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Pierpont Syndrome
Wide nose, Short stature, Short nose, Microcornea, Broad nasal tip, Microphthalmia, Cryptorchidis... OMIM:602342
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Hypoplasia of the premaxilla, Short stature, Cryptorchidism, Corneal dystr... ORPHA:2673
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Seckel Syndrome 2
Prominent nose, Short stature, Micrognathia, Hypospadias, Microphthalmia, Growth delay OMIM:606744
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis OMIM:146200
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Dislocation Of The Hip-Dysmorphism Syndrome
Depressed nasal ridge, Wide nasal bridge, Prominence of the premaxilla, Anteverted nares, Malar f... ORPHA:2412
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Intrauterine growth retardation, Cryptorchidism ORPHA:2489
Congenital Varicella Syndrome
Cataract, Microphthalmia, Intrauterine growth retardation ORPHA:291
Hypomagnesemia 3, Renal
Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiuria, Hematuria,... OMIM:248250
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cataract, Microphthalmia, Cryptorchidism ORPHA:363741
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... OMIM:201170
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Retinopathy, Abnormal pelvis bone ossification, Limb undergrowth, Short... ORPHA:1505
Dyschondrosteosis And Nephritis
Short tibia, Radial bowing, Ulnar bowing, Short forearm OMIM:127350
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Short mandibular condyles, Hypoplasia of the maxilla, Primary amenorrhea, Cl... OMIM:264270
Holoprosencephaly 9
Dental malocclusion, Agenesis of incisor, Anterior pituitary hypoplasia, Decreased response to gr... OMIM:610829
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... OMIM:300554
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Bresek Syndrome
Convex nasal ridge, Decreased testicular size, Optic nerve hypoplasia, Iris coloboma, Microphthal... ORPHA:85284
Malan Syndrome
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, S... OMIM:614753
Familial Median Cleft Of The Upper And Lower Lips
Abnormal mandible morphology, Abnormal maxilla morphology ORPHA:401942
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria OMIM:613404
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea OMIM:251505
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Cataract, Microphthalmia OMIM:278780
Warburg Micro Syndrome 3
Decreased testicular size, Micrognathia, Hypoplastic labia minora, Developmental cataract, Microc... OMIM:614222
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Decreased testicular size, Hypoplasia of the maxilla, Cryptorchidism, Prominent na... ORPHA:85279
Micro Syndrome
Wide nasal bridge, Short stature, Micrognathia, Hypoplastic labia minora, Hypoplasia of penis, Cl... ORPHA:2510
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Wide nasal bridge, Hypoplastic frontal si... OMIM:136760
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... OMIM:193230
Pierpont Syndrome
Microcornea, Wide nasal ridge, Microphthalmia, Cryptorchidism, Malar flattening ORPHA:487825
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Cone/cone-rod dystrophy, Rhizomelia, Sh... OMIM:608940
Holoprosencephaly-Postaxial Polydactyly Syndrome
Absent nares, Ambiguous genitalia, Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hyp... ORPHA:2166
Rere-Related Neurodevelopmental Syndrome
Micrognathia, Astigmatism, Iris coloboma, Peters anomaly, Hypospadias, Microphthalmia, Anteverted... ORPHA:494344
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Microphthalmia With Limb Anomalies
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydac... ORPHA:1106
2Q24 Microdeletion Syndrome
Growth delay, Cataract, Microphthalmia, Abnormality iris morphology ORPHA:1617
3Mc Syndrome 2
Wide nasal bridge, Prominence of the premaxilla, Hypospadias, Cryptorchidism, Depressed nasal tip... OMIM:265050
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria OMIM:616026
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Axenfeld-Rieger Syndrome
Posterior embryotoxon, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Hypoplasia of the maxil... ORPHA:782
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis OMIM:617105
Warburg Micro Syndrome 4
Short stature, Decreased testicular size, Prominent nasal bridge, Developmental cataract, Microco... OMIM:615663
Trichothiodystrophy 3, Photosensitive
Natal tooth, Short stature, Bilateral cryptorchidism, Developmental cataract, Cataract, Microphth... OMIM:616395
Warburg Micro Syndrome 2
Prominent nasal bridge, Hypoplastic labia majora, Developmental cataract, Microcornea, Short nose... OMIM:614225
Bartter Syndrome, Type 3
Renal salt wasting, Hyperchloriduria, Increased urinary potassium, Polyuria, Hypocalciuria, Impai... OMIM:607364
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Reduced renal corticomedullary diff... OMIM:208085
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Wide nose, Retrognathia, Decreased response to growth hormone stimulation test, Short stature, De... ORPHA:280679
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis OMIM:611087
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia OMIM:610023
Chondrodysplasia Punctata, Autosomal Dominant
Moderate postnatal growth retardation, Hypoplasia of the nasal bone, Cataract, Hyperkeratosis wit... OMIM:118650
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis ORPHA:500533
Baraitser-Winter Syndrome 1
Retrognathia, Wide nasal bridge, Short stature, Short nose, Iris coloboma, Microphthalmia, Anteve... OMIM:243310
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Developmental glaucoma, Megalocornea, Convex nasal ridge, Short nasal b... ORPHA:2409
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Microphthalmia, Cataract OMIM:610092
Joubert Syndrome 37
Wide nose, Wide nasal bridge, Short stature, Decreased testicular size, Microphthalmia, Anteverte... OMIM:619185
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Underdeveloped nasal alae, Encephalocele, Hypogonadism, Bifid nose, Depressed nasal bridge, Micro... ORPHA:228390
Enamel-Renal Syndrome
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... ORPHA:1031
Multiple Benign Circumferential Skin Creases On Limbs
Abnormality of the scrotum, Short stature, Micrognathia, Microcornea, Hypospadias, Microphthalmia... ORPHA:2505
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Medullary nephrocalcinosis, Hypercalciuria OMIM:300971
Nance-Horan Syndrome
Mandibular prognathia, Prominent nose, Supernumerary tooth, Microcornea, Cataract, Microphthalmia... ORPHA:627
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Abnormal external genitalia, Microphthalmia ORPHA:3469
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phospha... OMIM:211900
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Elevated ... OMIM:137920
Foveal Hypoplasia 2
Posterior embryotoxon, Axenfeld anomaly, Astigmatism, Hypoplasia of the fovea, Microphthalmia OMIM:609218
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... OMIM:601559
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Cleft ala nasi, Microphthalmia, Cryptorchidism OMIM:164180
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal sodium wasting, Renal insufficiency, Abnormal urine sodium concentration ORPHA:320
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Overhanging nasal tip, Convex nasal ridge, Short stature, Cataract, Narrow nasal bridge, Malar fl... ORPHA:85172
Triploidy
Meningocele, Ambiguous genitalia, Aplasia/Hypoplasia affecting the eye, Abnormality of the pancre... ORPHA:3376
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short stature, Micrognathia, Cataract, Depressed nasal bridge, Cryptorchidism, Hypogonadotropic h... ORPHA:1387
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Micrognathia, Astigmatism, Cataract, Microphthalmia, Anteverted nares OMIM:619694
Microphthalmia, Syndromic 5
Anophthalmia, Short stature, Microcornea, Optic nerve hypoplasia, Ectopic posterior pituitary, Ca... OMIM:610125
Laurence-Moon Syndrome
Short stature, Hypoplasia of penis, Iris coloboma, Cataract, Cryptorchidism, Displacement of the ... ORPHA:2377
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Hypoplasia of penis, Microphthalmia, Short nose ORPHA:2547
Hypergonadotropic Hypogonadism-Cataract Syndrome
Decreased fertility, Short stature, Increased circulating gonadotropin level, Cataract, Secondary... ORPHA:2410
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Microcoria, Iris coloboma, Anophthalmia OMIM:616428
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Martsolf Syndrome 2
Short stature, Developmental cataract, Cataract, Broad nasal tip, Hypogonadotropic hypogonadism OMIM:619420
Fanconi-Bickel Syndrome
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Ne... ORPHA:2088
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal mandible morphology, Jaw swelling, Hyperplasia of the maxilla, Supe... ORPHA:83451
Microphthalmia, Syndromic 13
Iris coloboma, Microphthalmia, Short stature, Microcornea OMIM:300915
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria OMIM:615398
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Convex nasal ridge, Decreased response to growth hormone stimulation test, Micrognathia, Severe i... OMIM:241410
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Broad nasal tip, Short stature OMIM:259610
Congenital Rubella Syndrome
Short stature, Aplasia/Hypoplasia of the iris, Jaundice, Intrauterine growth retardation, Catarac... ORPHA:290
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Frontofacionasal Dysplasia
Brushfield spots, Encephalocele, Depressed nasal ridge, Short stature, Limbal dermoid, Microcorne... ORPHA:1791
Cerebrooculofacioskeletal Syndrome 1
Prominent nose, Delayed eruption of teeth, Micrognathia, Cataract, Microphthalmia, Cryptorchidism... OMIM:214150
Erythrokeratodermia Variabilis
Abnormal testis morphology, Short stature, Cataract, Corneal opacity, Hyperkeratosis, Patchy palm... ORPHA:317
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... ORPHA:79106
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Hypophosphatasia, Infantile
Nephrocalcinosis, Phosphoethanolaminuria, Hypercalciuria, Elevated urine pyrophosphate OMIM:241500
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Microphthalmia, Cryptorchidism, Hypoplasia of teeth, Intrauterine growth retardati... ORPHA:2728
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Nephrolithiasis, Medullary nephrocalcinosis, Hypercalciuria ORPHA:157215
Slc35A2-Cdg
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... ORPHA:356961
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Hypoplasia of the maxilla, Bilateral microphthalmos, Cataract, Recurrent upper respira... ORPHA:2399
Meckel Syndrome, Type 8
Ambiguous genitalia, Encephalocele, Depressed nasal ridge, Anophthalmia, Short nose, Microphthalm... OMIM:613885
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Broad nasal tip, Short stature ORPHA:2776
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Rhizomelia, Short stature, Micrognathia, Short nose, Microphthalmia, Hyper... ORPHA:163966
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Wide nasal bridge, Anterior chamber synechiae, Microcornea, Hypoplasia of ... OMIM:601499
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Retrognathia, Abnormal nostril morphology, Decreased response to growth hormone stimul... OMIM:300845
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the lens ORPHA:1381
Acrodysostosis
Irregular menstruation, Abnormality of female external genitalia, Mandibular prognathia, Depresse... ORPHA:950
Oculodentodigital Dysplasia, Autosomal Recessive
Underdeveloped nasal alae, Dental malocclusion, Macrodontia of permanent maxillary central inciso... OMIM:257850
Aarskog-Scott Syndrome
Megalocornea, Wide nasal bridge, Delayed eruption of teeth, Shawl scrotum, Short stature, Hypopla... ORPHA:915
Aicardi Syndrome
Precocious puberty, Spina bifida, Prominence of the premaxilla, Hepatoblastoma, Cataract, Microph... OMIM:304050
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency ORPHA:445038
Oculoskeletodental Syndrome
Nephrocalcinosis ORPHA:557003
Chondrodysplasia Punctata 1, X-Linked Recessive
Hypogonadism, Short stature, Short nose, Cataract, Depressed nasal bridge, Anosmia, Short nasal s... OMIM:302950
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Acrodysostosis With Multiple Hormone Resistance
Mandibular prognathia, Decreased response to growth hormone stimulation test, Hypogonadism, Absen... ORPHA:280651
Cat-Eye Syndrome
Iris coloboma, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:195
Trisomy 13
Anophthalmia, Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Iris coloboma, Cat... ORPHA:3378
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Absent nares, Single naris, Anophthalmia, Hypogonadism, Hyposmia, External genital hypoplasia, Hy... ORPHA:2250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Hypoplasia of penis, Disproportionate short-limb short stature, Cataract, Cr... ORPHA:2772
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Microcornea, Astigmatism, Cataract, Depressed nasal bridge, Broad nasal ti... OMIM:152950
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Underdeveloped nasal alae, Dental malocclusion, Short stature, Cataract, Malar flattening OMIM:616108
Fanconi Anemia, Complementation Group S
Underdeveloped nasal alae, Dental malocclusion, Short stature, Microphthalmia, Anteverted nares, ... OMIM:617883
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia OMIM:120433
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Iris coloboma, Anophthalmia OMIM:611638
Cystic Fibrosis
Cirrhosis, Abnormality of the liver, Elevated hepatic transaminase, Nasal polyposis, Sinusitis, E... ORPHA:586
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Sanjad-Sakati Syndrome
Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, Short stature, Micrognathia, Hypoplasia... ORPHA:2323
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Short nos... OMIM:614732
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... OMIM:268305
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Microphthalmia, Hypogonadotropic hypogonadism, Abnormality... ORPHA:1135
Hydrolethalus
Retrognathia, Abnormal fallopian tube morphology, Anophthalmia, Micrognathia, Arrhinencephaly, An... ORPHA:2189
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... ORPHA:18
Ritscher-Schinzel Syndrome 3
Micrognathia, Microphthalmia, Anteverted nares, Cryptorchidism, Postnatal growth retardation OMIM:619135
Microphthalmia With Limb Anomalies
Retrognathia, Anophthalmia, Short nose, Unilateral cryptorchidism, Depressed nasal bridge, Microp... OMIM:206920
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Cryptorchidism, Sclerocornea ORPHA:139471
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Prominent nose, Micrognathia, Prominent nasal tip, Short nose, Hypoplasia ... ORPHA:439822
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Wide nose, Iris hypopigmentation, Micrognathia, Hypoplasia of penis, C... ORPHA:284160
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Prominent nose, Posterior Y-sutural... OMIM:302350
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Keratoconjunctivitis sicca, Microcornea, Cataract, Narrow nasal bridge, Microphtha... ORPHA:1806
Temtamy Syndrome
Micrognathia, Iris coloboma, Convex nasal ridge, Microphthalmia ORPHA:1777
Kapur-Toriello Syndrome
Hypoplastic labia majora, Intrauterine growth retardation, Iris coloboma, Cataract, Microphthalmi... OMIM:244300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Iris coloboma, Microphthalmia, Corneal opacity ORPHA:1473
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos, Low hanging ... OMIM:619318
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... OMIM:609945
Maxillonasal Dysplasia
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Short nose, Hypoplasia... ORPHA:1248
Marshall-Smith Syndrome
Retrognathia, Choanal stenosis, Short stature, Bilateral cryptorchidism, Prominence of the premax... OMIM:602535
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Fanconi Anemia, Complementation Group J
Microphthalmia, Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis OMIM:614473
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Optic nerve hypoplasia, Short nose, Cataract, Delayed pubert... ORPHA:496790
Meier-Gorlin Syndrome 4
Birth length less than 3rd percentile, Short stature, Micrognathia, Intrauterine growth retardati... OMIM:613804
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Convex nasal ridge, Short stature OMIM:156510
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Occipital encephalocele, Microphthalmia, Developmental cataract ORPHA:324416
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hypoplasia of penis, Iris coloboma, Hypospadias, Microphthalmia, Growth delay, Cryp... ORPHA:77298
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Microcornea, Vaginal ... ORPHA:3301
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Cataract, Elevated circulating follicle stimulating... OMIM:240950
Infantile Spasms-Broad Thumbs Syndrome
Micrognathia, Cataract, Convex nasal ridge, Vaginal hernia ORPHA:3173
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Optic nerve hypoplasia,... OMIM:603671
Congenital Toxoplasmosis
Jaundice, Elevated hepatic transaminase, Microphthalmia, Hepatomegaly, Intrauterine growth retard... ORPHA:858
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Micrognathia, Pterygium, Severe short stature, Cataract, Disproportionate shor... OMIM:224410
Holoprosencephaly 7
Wide nasal bridge, Hypoplasia of the premaxilla, Absent nasal septal cartilage, Bifid nose, Panhy... OMIM:610828
Sandestig-Stefanova Syndrome
Retrognathia, Convex nasal ridge, Wide nasal bridge, Developmental cataract, Microphthalmia, Intr... OMIM:618804
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia, Short stature OMIM:251270
Ruijs-Aalfs Syndrome
Hypogonadism, Short stature, Micrognathia, Hepatocellular carcinoma, Posterior subcapsular catara... OMIM:616200
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Lesch-Nyhan Syndrome
Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria OMIM:300322
20P12.3 Microdeletion Syndrome
Short stature, Wide nasal bridge, Hypoplasia of the maxilla, Depressed nasal bridge, Malar flatte... ORPHA:261295
Silver-Russell Syndrome 3
Retrognathia, Ambiguous genitalia, Short stature, Antecubital pterygium, Unilateral cryptorchidis... OMIM:616489
Nanophthalmos
Microphthalmia ORPHA:35612
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Dental malocclusion, Mandibular prognathia, Elevated circulating thyroid-... OMIM:101800
Primary Hyperoxaluria
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... ORPHA:416
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Anophthalmia, Annular pancreas, Abnormal spleen morphology, A... ORPHA:2470
Chromosome 8Q21.11 Deletion Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Micrognathia, Cataract, Microphthalmia, Growth dela... OMIM:614230
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Bulbous nose, Mandibular prognathia, Short stature ORPHA:93945
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Martsolf Syndrome 1
Short stature, Micrognathia, Developmental cataract, Hypoplasia of the maxilla, Cataract, Depress... OMIM:212720
Trichothiodystrophy 4, Nonphotosensitive
Decreased fertility, Retrognathia, Keratoconjunctivitis sicca, Short nose, Microcornea, Microphth... OMIM:234050
Subaortic Stenosis-Short Stature Syndrome
Short stature, Micrognathia, Biliary tract abnormality, Microphthalmia, Anteverted nares ORPHA:3191
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Abnormality of the sen... OMIM:228300
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria OMIM:156400
Marden-Walker Syndrome
Micrognathia, Intrauterine growth retardation, Hypospadias, Microphthalmia, Anteverted nares, Cry... OMIM:248700
Ophthalmomandibulomelic Dysplasia
Megalocornea, Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Opacificatio... OMIM:164900
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Macroorchidism, Micrognathia, Prominent nasal bridge ORPHA:776
Microphthalmia, Isolated 6
Microphthalmia, Microcornea OMIM:613517
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... OMIM:263520
Isolated Arrhinia
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ... ORPHA:1134
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Short Stature-Micrognathia Syndrome
Retrognathia, Rhizomelia, Short stature, Micrognathia, Intrauterine growth retardation, Astigmati... OMIM:617164
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Peters anomaly, Prominent nasal bridge, Microphthalmia OMIM:618652
Temtamy Syndrome
Convex nasal ridge, Lens luxation, Micrognathia, Ectopia lentis, Iris coloboma, Microphthalmia, H... OMIM:218340
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis, Growth delay OMIM:308350
Meckel Syndrome
Asplenia, Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Micrognathia, Congenital hepatic f... ORPHA:564
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cataract, Microph... OMIM:618805
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Wide nasal bridge, Bifid scrotum, Short stature, Micrognathia, Hypoplasia of... ORPHA:85321
Atelosteogenesis Type Iii
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... ORPHA:56305
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Short nose, Hypoplasia of the maxil... ORPHA:1529
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Aicardi Syndrome
Precocious puberty, Prominence of the premaxilla, Hepatoblastoma, Delayed puberty, Microphthalmia ORPHA:50
Mosaic Trisomy 9
Abnormal fallopian tube morphology, Asplenia, Abnormal liver lobulation, Spina bifida, Micrognath... ORPHA:99776
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Enamel hypoplasia, Macroorchidism, Short stature, Unilateral microphthalmos, Iris coloboma, Hypos... OMIM:618874
Autosomal Dominant Keratitis
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... ORPHA:2334
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Wide nasal bridge, Short stature, Ocular anterior segment dysgenesis, Shor... ORPHA:369891
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Ring Chromosome 10 Syndrome
Micrognathia, Microphthalmia, Wide nasal bridge, Intrauterine growth retardation ORPHA:1438
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Popl... OMIM:119800
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty, Corneal opacity, Short stature ORPHA:2788
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
19Q13.11 Microdeletion Syndrome
Underdeveloped nasal alae, Retrognathia, Bifid scrotum, Supernumerary nipple, Microcornea, Broad ... ORPHA:217346
Baraitser-Winter Syndrome 2
Retrognathia, Microphthalmia, Short stature OMIM:614583
Bosma Arhinia Microphthalmia Syndrome
Primary amenorrhea, Dental malocclusion, Paranasal sinus hypoplasia, Aplasia of the nose, Hypopla... OMIM:603457
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Amelogenesis imperfecta, Mandibular prognathia, Short stature OMIM:601216
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Gorlin Syndrome
Mandibular prognathia, Wide nasal bridge, Iris coloboma, Cataract, Carious teeth, Cryptorchidism,... ORPHA:377
Bartsocas-Papas Syndrome 2
Micrognathia, Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Cor... OMIM:619339
Moebius Syndrome
Decreased testicular size, Micrognathia, Depressed nasal bridge, Microphthalmia, Hypogonadotropic... OMIM:157900
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Wide nose, Dental malocclusion, Phakodonesis, Convex nasal ridge, Prominent nose, Retrognathia, A... OMIM:601552
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Encephalocele, Depressed nasal ridge, Wide nasal bridge, Cleft ala nas... OMIM:613451
Aarskog-Scott Syndrome
Wide nasal bridge, Shawl scrotum, Short stature, Bilateral cryptorchidism, Short nose, Hypoplasia... OMIM:305400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Hy... OMIM:616300
Microphthalmia, Lenz Type
Short stature, Delayed eruption of teeth, Microcornea, Iris coloboma, Hypospadias, Cataract, Micr... ORPHA:568
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla OMIM:618587
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... ORPHA:1988
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Short stature, Delayed eruption of teeth, Cataract, Depressed nasal bridge, Ps... OMIM:612463
Cowden Syndrome 6
Micrognathia, Hydrocele testis, Palmoplantar hyperkeratosis, Hypoplasia of the maxilla, Cataract,... OMIM:615109
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria OMIM:259900
Intellectual Disability-Strabismus Syndrome
Hypospadias, Medullary nephrocalcinosis, Micropenis ORPHA:363528
Hereditary Bullous Dystrophy, Macular Type
Short stature, External genital hypoplasia, Decreased testicular size, Cataract, Corneal opacity,... ORPHA:1867
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Central retinal... ORPHA:2751
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Hyperplasia of the maxilla OMIM:613671
Hartsfield Syndrome
Depressed nasal bridge, Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Autosomal Dominant Kenny-Caffey Syndrome
Calvarial osteosclerosis, Short stature, Decreased testicular size, Developmental cataract, Bilat... ORPHA:93325
Cowden Syndrome 5
Micrognathia, Hydrocele testis, Palmoplantar hyperkeratosis, Hypoplasia of the maxilla, Cataract,... OMIM:615108
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Developmental cataract, Splenic rupture, Mic... ORPHA:335
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... OMIM:613091
Stromme Syndrome
Wide nasal bridge, Micrognathia, Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anoma... OMIM:243605
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Zonular cataract, Hypogonadism, Delayed eruption of teeth, Short stature, ... OMIM:268400
Familial Hypocalciuric Hypercalcemia
Reduced ratio of renal calcium clearance to creatinine clearance, Parathormone-independent increa... ORPHA:405
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... ORPHA:137902
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cataract, Short nose ORPHA:90653
Trichothiodystrophy 1, Photosensitive
Retrognathia, Hypogonadism, Short stature, Keratoconjunctivitis sicca, Microcornea, Short nose, C... OMIM:601675
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Short stature, Abnormally prominent line of Schwalbe, Hypoplasia of the maxilla, ... OMIM:109120
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Depressed nasal bridge, Microphthalmia, Conjunctiva... OMIM:167730
Vacterl With Hydrocephalus
Retrognathia, Abnormal fallopian tube morphology, Anophthalmia, Spina bifida, Micrognathia, Arrhi... ORPHA:3412
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... OMIM:258315
Sponastrime Dysplasia
Wide nose, Obtuse angle of mandible, Microcoria, Precocious puberty, Aplasia of the nasal bone, M... ORPHA:93357
Nanophthalmos 4
Microphthalmia OMIM:615972
Jacobsen Syndrome
Macular hypoplasia, Annular pancreas, Micrognathia, Labial hypoplasia, Clitoral hypoplasia, Micro... OMIM:147791
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Stage 3 chronic kidney disease, Medullary nephrocalcinosis, Organic aciduri... OMIM:619743
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Cataract, Depressed nasal bridge, Microphthalmia, Hyperkeratosis OMIM:612379
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... ORPHA:2634
Meier-Gorlin Syndrome 5
Birth length less than 3rd percentile, Short stature, Micrognathia, Intrauterine growth retardati... OMIM:613805
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, 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
Harrod Syndrome
Dental malocclusion, Cataract, Hypospadias, Cryptorchidism, Long nose, Intrauterine growth retard... ORPHA:2115
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Wide nasal bridge, Bifid scrotum, Delayed eruption of teeth, Micrognathia, Penoscr... OMIM:619148
Frontorhiny
Cranium bifidum occultum, Midline nasal groove, Hypoplastic frontal sinuses, Encephalocele, Basal... ORPHA:391474
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Hypoplasia of the thymus, Micrognathia, Jaundice, Intrahepatic biliary dysgenes... OMIM:214110
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... ORPHA:96334
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Renal dysplasia, Renal cyst, Abnormality of the urinary system, Nephrocalc... ORPHA:369837
Braddock-Carey Syndrome 2
Retrognathia, Bulbous nose, Microphthalmia OMIM:619981
Rodrigues Blindness
Short stature, Microcornea, Narrow nasal bridge, Microphthalmia, Sclerocornea OMIM:268320
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... OMIM:609441
Keipert Syndrome
Hypoplasia of the maxilla, Depressed nasal bridge, Prominent nasal bridge, Short stature ORPHA:2662
Hyperparathyroidism-Jaw Tumor Syndrome
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... ORPHA:99880
Distal Limb Deficiencies-Micrognathia Syndrome
Short stature, Microretrognathia, Hypoplasia of the maxilla, Cryptorchidism, Prominent nasal bridge ORPHA:1307
8Q22.1 Microdeletion Syndrome
Abnormal nostril morphology, Depressed nasal ridge, Wide nasal bridge, Hypogonadism, Hypoplasia o... ORPHA:178303
Zellweger Syndrome
Brushfield spots, Hepatic failure, Posterior embryotoxon, Wide nasal bridge, Short stature, Micro... ORPHA:912
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Short stature, Microretrognathia, Short nose, Astigmatism, Cataract, Microphth... OMIM:618571
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Short stature, Decreased testicular size, Micrognathia, Hypoplasia of the ... OMIM:300534
Adams-Oliver Syndrome 2
Micrognathia, Developmental cataract, Depressed nasal bridge, Microphthalmia, Bulbous nose OMIM:614219
Myhre Syndrome
Precocious puberty, Mandibular prognathia, Hypogonadism, External genital hypoplasia, Craniofacia... ORPHA:2588
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Wide nose, Mandibular prognathia, Cleft ala nasi, Decreased testicular size, Narrow nasal base, B... ORPHA:3044
Carpenter Syndrome 1
Precocious puberty, Short stature, External genital hypoplasia, Micrognathia, Polysplenia, Microc... OMIM:201000
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis OMIM:617913
Cohen Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Iris coloboma, Delayed puberty, Microphth... ORPHA:193
Parathyroid Carcinoma
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... ORPHA:143
Spondylo-Ocular Syndrome
Short stature, Iris hypopigmentation, Cataract, Microphthalmia, Disproportionate short-trunk shor... ORPHA:85194
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypermagnesiuria, Nephrocalcinosis, Hypercalciuria, Hyperprost... ORPHA:73224
Congenital Heart Defects And Skeletal Malformations Syndrome
Narrow maxilla, Short stature, Long nose, Short nose, Hypospadias, Narrow nose, Cryptorchidism, C... OMIM:617602
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Wide nasal bridge, Abnormal nasal morphology, Micrognathia, Depressed nasal bridge, Microphthalmi... ORPHA:404440
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalie