Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Blue Diaper Syndrome |
|
Nephrocalcinosis |
OMIM:211000 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Short stature, Growth delay, Microcornea, Hypogonadism, Microphthalmia, Retrognathia |
ORPHA:2528 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury |
ORPHA:33111 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting |
ORPHA:564178 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Micrognathia, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Bicornuate uterus... |
OMIM:615524 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Cofs Syndrome |
|
Cataract, Short stature, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Hypogonadism... |
ORPHA:1466 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Distal renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis |
OMIM:179800 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small scrotum, Cataract, Micrognathia, Prominent nose, Developmental cataract, Growth delay, Micr... |
OMIM:610756 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism, Short stature |
OMIM:312910 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism, Mandibular prognathia |
ORPHA:3434 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria |
OMIM:602722 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Short stature, Micrognathia, Prominent nose, Microcornea, Microphthalmia, Intrauterine ... |
OMIM:616171 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Short stature, Malar prominence, Micrognathia, Microcorn... |
ORPHA:48431 |
Warburg Micro Syndrome 1 |
|
Short stature, External genital hypoplasia, Anteverted nares, Micrognathia, Cryptorchidism, Wide ... |
OMIM:600118 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting |
OMIM:618314 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim... |
ORPHA:2975 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Prominence of the premaxilla, Short stature, Prominent nose, Wide ... |
OMIM:614886 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation, Micrognathia |
OMIM:616570 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity, Hepatomegaly |
ORPHA:2432 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia |
ORPHA:99879 |
Wagr Syndrome |
|
Cataract, Short stature, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous ... |
ORPHA:893 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis |
OMIM:615633 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:601198 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Polyuria |
OMIM:620152 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Jaundice,... |
ORPHA:93111 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism, Mandibular prognathia, Microcornea |
OMIM:601349 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Distal renal tubular acidosis, Nephrocalcinosis |
OMIM:611590 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Cryptorchidism, Neonatal death, Microphthalmia |
OMIM:613730 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine |
ORPHA:94086 |
Biemond Syndrome Type 2 |
|
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microph... |
ORPHA:141333 |
Pierpont Syndrome |
|
Wide nose, Short stature, Broad nasal tip, Cryptorchidism, Microcornea, Microphthalmia, Micropeni... |
OMIM:602342 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cataract, Rhizomelia, Micrognathia, Wide nasal bridge, Ambiguous genitalia, Microphthalmia |
ORPHA:93267 |
Wilson-Turner Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Short stature, Malar prominence, Micrognathia, Cryptorch... |
ORPHA:3459 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Otodental Syndrome |
|
Delayed eruption of teeth, Cataract, Anteverted nares, Abnormal dental enamel morphology, Abnorma... |
ORPHA:2791 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Decreased testicular size |
ORPHA:93950 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Malar f... |
ORPHA:2412 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis |
OMIM:146200 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Short stature, Hypoplasia of the premaxilla, Corneal dystrophy, Prominent ... |
ORPHA:2673 |
Seckel Syndrome 2 |
|
Hypospadias, Short stature, Micrognathia, Prominent nose, Growth delay, Microphthalmia |
OMIM:606744 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract, Intrauterine growth retardation |
ORPHA:291 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Astigmatism, Advanced eruption of teeth, Sh... |
OMIM:614753 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Microphthalmia |
ORPHA:363741 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius,... |
OMIM:607143 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Depressed nasa... |
OMIM:610829 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract, Intrauterine growth retardation |
ORPHA:2489 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Cataract, Micrognathia, Postnatal growth retardation, Hypoplastic labia minora, De... |
OMIM:614222 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Convex nasal ridge, Cryptorchidism, Growth delay, Neonatal death, Microph... |
ORPHA:85284 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal maxilla morphology, Abnormal mandible morphology |
ORPHA:401942 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy |
OMIM:613404 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea, Ambiguous genitalia, Cl... |
OMIM:264270 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia, Cataract |
OMIM:278780 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism, Decreased testi... |
ORPHA:85279 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Short stature, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Developme... |
OMIM:615663 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Micro Syndrome |
|
Hypoplasia of penis, Cataract, Short stature, Anteverted nares, Micrognathia, Cryptorchidism, Hyp... |
ORPHA:2510 |
Frontonasal Dysplasia 1 |
|
Cataract, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic frontal sinuse... |
OMIM:136760 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Pierpont Syndrome |
|
Wide nasal ridge, Cryptorchidism, Microcornea, Microphthalmia, Malar flattening |
ORPHA:487825 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Short stature, Anteverted nares, Narrow nasal ridge, Prominent nasa... |
OMIM:620370 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Femoral b... |
OMIM:608940 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Anteverted nares, Choanal atresia, Micrognathia, Postnatal growth retardation, Crypt... |
ORPHA:494344 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Micrognathia, Cryp... |
ORPHA:2166 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis |
OMIM:617105 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Prominent nasal bridge, Postnatal growth retardation, Cryptorchidism, De... |
OMIM:614225 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Postnatal growth retardation, ... |
OMIM:265050 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis |
OMIM:611087 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis |
ORPHA:500533 |
Axenfeld-Rieger Syndrome |
|
Posterior embryotoxon, Hypospadias, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal... |
ORPHA:782 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Short stature, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Joubert Syndrome 37 |
|
Hepatomegaly, Wide nose, Short stature, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micr... |
OMIM:619185 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Cataract, Short stature, Bilateral cryptorchidism, Carious teeth, Developmental cata... |
OMIM:616395 |
Baraitser-Winter Syndrome 1 |
|
Short stature, Anteverted nares, Postnatal growth retardation, Cryptorchidism, Wide nasal bridge,... |
OMIM:243310 |
Lowry-Maclean Syndrome |
|
Short nasal bridge, Hypospadias, Corneal opacity, Delayed eruption of primary teeth, Micrognathia... |
ORPHA:2409 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Wide nose, Cataract, Hypergonadotropic hypogonadism, Short stature, Decreased response to growth ... |
ORPHA:280679 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema, Cataract, Hypoplasia of the nasal bone, Moderate postnatal growth r... |
OMIM:118650 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Short stature, Micrognathia, Cryptorchidism, Microcornea, Umbilical h... |
ORPHA:2505 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cryptorchidism, Cataract, Hypogonadism |
OMIM:601794 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor... |
OMIM:208085 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... |
OMIM:601559 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:300971 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Small scrotum, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae... |
ORPHA:228390 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Cataract, Anteverted nares, Micrognathia, Astigmatism, Microphthalmia |
OMIM:619694 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Cataract, Prominent nasal bridge, Prominent nose, Supernumerary tooth, Mic... |
ORPHA:627 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... |
OMIM:211900 |
Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Renal sodium wasting |
ORPHA:320 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Short stature, Optic nerve hypoplasia, Cataract, Crypt... |
OMIM:610125 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Micrognathia, Cryptorchidism, Abnormali... |
ORPHA:3376 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal nostril morphology, Abnormal external genitalia |
ORPHA:3469 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Narrow nasal bridge, Cataract, Short stature, Convex nasal ridge, Malar flattening, Overhanging n... |
ORPHA:85172 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Hypospadias, Exocrine pancreatic insufficiency, Biliary tract abno... |
OMIM:137920 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Cataract, Short stature, Cryptorchidism, Congenital hepatic fibrosis, Displa... |
ORPHA:2377 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cleft ala nasi, Cryptorchidism, Orbital encephalocele, Microphthalmia |
OMIM:164180 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma |
OMIM:616428 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Short stature, Iris coloboma |
OMIM:300915 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Short nose, Micrognathia |
ORPHA:2547 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci... |
ORPHA:2088 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ... |
ORPHA:356961 |
Martsolf Syndrome 2 |
|
Cataract, Hypogonadotropic hypogonadism, Short stature, Broad nasal tip, Developmental cataract |
OMIM:619420 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, Short stature, Hypogonadotropic hypogonadism, Depressed nasal bridge, Micrognathia, Cry... |
ORPHA:1387 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Postnatal growth retardation, Cryptorchidism, Hypoplasia of teeth, Microphthalmia,... |
ORPHA:2728 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Short stature, Corneal opacity, Splenomegaly, Jaundice, Aplasia/Hypoplasi... |
ORPHA:290 |
Frontofacionasal Dysplasia |
|
Encephalocele, Cataract, Short stature, Depressed nasal bridge, Choanal atresia, Brushfield spots... |
ORPHA:1791 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Short stature, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level... |
ORPHA:2410 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Cataract, Corneal opacity, Hypoplasia of the maxilla, Bilateral microphthalmos, Recurr... |
ORPHA:2399 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Micrognathia, Depressed nasal ridge, Hyperkeratosis, Microphthalmia, S... |
ORPHA:163966 |
Hypophosphatasia, Infantile |
|
Nephrocalcinosis, Elevated urine pyrophosphate, Phosphoethanolaminuria, Hypercalciuria |
OMIM:241500 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cataract, Prominent nasal bridge, Micrognathia, Carious teeth, Cryptor... |
OMIM:214150 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Micrognathia, Post... |
OMIM:241410 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypercalciuria, Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis |
ORPHA:157215 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short stature, Broad nasal tip |
ORPHA:2776 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Depressed nasal ridge, Ambiguous genitalia,... |
OMIM:613885 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Wide nasal bridge,... |
OMIM:601499 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Sinusitis, Nasal polyposis, Absent vas deferens, Abnormality of th... |
ORPHA:586 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short stature, Anteverted nares, Hypoplasia of the maxilla, Cryptorchi... |
ORPHA:915 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis |
ORPHA:557003 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Cryptorchidism |
ORPHA:1381 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cataract, Anteverted nares, Spina bifida, Precocious puberty, Postn... |
OMIM:304050 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Cataract, Corneal opacity, Anteverted nares, Depressed nasal bridge, Broad... |
OMIM:152950 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Anteverted nares, Depressed nasa... |
ORPHA:950 |
Cat-Eye Syndrome |
|
Microphthalmia, Short stature, Iris coloboma, Intrauterine growth retardation |
ORPHA:195 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Cataract, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:620157 |
Trisomy 13 |
|
Anophthalmia, Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Microphthalmia, Displacem... |
ORPHA:3378 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, External genital hypop... |
ORPHA:2250 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:120433 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract, Short stature, Underdeveloped nasal alae, Dental malocclusion, Malar flattening |
OMIM:616108 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cataract, Cryptorchidism, Disproportionate short-limb short stature, Ambiguo... |
ORPHA:2772 |
Fanconi Anemia, Complementation Group S |
|
Short stature, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Dental malocc... |
OMIM:617883 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract, Depressed nasal bridge, Short stature, Anosmia, Hypogonadism, Short nose, Short nasal s... |
OMIM:302950 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... |
ORPHA:1135 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Cataract, Short stature, Micrognathia, Hypoplasia of the maxilla, Long... |
OMIM:257850 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Postn... |
OMIM:614732 |
Hydrolethalus |
|
Anophthalmia, Micrognathia, Cryptorchidism, Anencephaly, Abnormality of the sense of smell, Abnor... |
ORPHA:2189 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Short stature, Abnormal dental enamel morphology, Cornea... |
ORPHA:2323 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis |
OMIM:614473 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Wide nose, Sclerocornea, Micrognathia, Underdevel... |
ORPHA:284160 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Fibular hypoplasia, Lateral humeral condyle aplasia, Opacification of ... |
OMIM:164900 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Narrow nasal bridge, Cataract, Short stature, Corneal dystrophy, Sclerocornea, Microcornea, Hyper... |
ORPHA:1806 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Developmental cataract, Microcornea, Mulberry molar, Post... |
OMIM:302350 |
Temtamy Syndrome |
|
Microphthalmia, Convex nasal ridge, Iris coloboma, Micrognathia |
ORPHA:1777 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Unilateral cryptorchidism, Depressed nasal bridge, Postnatal growth retardation, Fl... |
OMIM:206920 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... |
ORPHA:1248 |
Kapur-Toriello Syndrome |
|
Cataract, Cryptorchidism, Bulbous nose, Low hanging columella, Hypoplastic labia majora, Micropht... |
OMIM:244300 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nasal tip, Hypospadias, Abnormal dental enamel morphology, Depre... |
ORPHA:439822 |
Marshall-Smith Syndrome |
|
Microretrognathia, Prominence of the premaxilla, Short stature, Optic nerve hypoplasia, Choanal a... |
OMIM:602535 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:139471 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Cryptorch... |
ORPHA:496790 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Occipital encephalocele, Developmental cataract |
ORPHA:324416 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Microphthalmia, Intrauterine growth retard... |
ORPHA:858 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Short stature, Convex nasal ridge |
OMIM:156510 |
Ritscher-Schinzel Syndrome 3 |
|
Anteverted nares, Micrognathia, Postnatal growth retardation, Cryptorchidism, Microphthalmia |
OMIM:619135 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Short stature, Bilateral microphthalmos, Unilateral microphthalmos, Vaginal fistula, Low hanging ... |
OMIM:619318 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... |
OMIM:603671 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Sandestig-Stefanova Syndrome |
|
Wide nasal bridge, Developmental cataract, Microphthalmia, Retrognathia, Convex nasal ridge, Intr... |
OMIM:618804 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Growth delay, Micro... |
ORPHA:77298 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Aplasia/Hypoplasia involving the nose, Micrognathia, Cryptorchid... |
ORPHA:3301 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract, Short stature |
OMIM:251270 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Decreased fertility, Hypoplasia of teeth, Growth delay, Microcornea, Keratoconj... |
OMIM:234050 |
Holoprosencephaly 7 |
|
Occipital meningocele, Hypoplasia of the premaxilla, Flat nasal alae, Bilateral microphthalmos, A... |
OMIM:610828 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Cataract, Vaginal hernia, Convex nasal ridge, Micrognathia |
ORPHA:3173 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Silver-Russell Syndrome 3 |
|
Short stature, Unilateral cryptorchidism, Postnatal growth retardation, Antecubital pterygium, Am... |
OMIM:616489 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu... |
ORPHA:2751 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Severe short stature, Cataract, Micrognathia, Cryptorchidism, Wide nasal... |
OMIM:224410 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Wide nasal bridge, Malar flatte... |
ORPHA:261295 |
Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... |
OMIM:613804 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Cataract, Hypergonadotropic hypogonadism, Short stature, Decreased response to growth ... |
OMIM:300845 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short stature |
ORPHA:93945 |
Ruijs-Aalfs Syndrome |
|
Cataract, Short stature, Prominent nasal bridge, Micrognathia, Posterior subcapsular cataract, Bu... |
OMIM:616200 |
Kniest Dysplasia |
|
Retinal detachment, Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Delayed epi... |
OMIM:156550 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte... |
OMIM:263520 |
Martsolf Syndrome 1 |
|
Cataract, Hypogonadotropic hypogonadism, Short stature, Depressed nasal bridge, Micrognathia, Hyp... |
OMIM:212720 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Micrognathia, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridg... |
OMIM:614230 |
Marden-Walker Syndrome |
|
Hypospadias, Anteverted nares, Micrognathia, Postnatal growth retardation, Cryptorchidism, Microp... |
OMIM:248700 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Subaortic Stenosis-Short Stature Syndrome |
|
Anteverted nares, Short stature, Micrognathia, Biliary tract abnormality, Microphthalmia |
ORPHA:3191 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Short stature, Micrognathia, Microcornea, Iris transillumination defect, Microphthalmia |
OMIM:617306 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn... |
ORPHA:2470 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Elevated circulating alanine aminotransferase concentration, Microphthalm... |
OMIM:618805 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... |
OMIM:240950 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria |
OMIM:156400 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia, Prominent nasal bridge, Peters anomaly |
OMIM:618652 |
Short Stature-Micrognathia Syndrome |
|
Small scrotum, Short stature, Rhizomelia, Cataract, Micrognathia, Cryptorchidism, Astigmatism, In... |
OMIM:617164 |
Temtamy Syndrome |
|
Convex nasal ridge, Lens luxation, Micrognathia, Ectopia lentis, Hypoplasia of teeth, Microphthal... |
OMIM:218340 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia, Micropenis |
OMIM:308350 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Short stature, Bifid nasal tip, Unilateral microphthalmos, Macroorchidism, Malar fla... |
OMIM:618874 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Wide nose, Cataract, Prominent nasal bridge, Ectopia lentis, Prominent nose, Dental... |
OMIM:601552 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Short metacarpal, Cataract, Epiphyseal dysplasia, Sandal gap, Abnormal pelvis... |
ORPHA:1427 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... |
ORPHA:1529 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Short stature, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Bilat... |
ORPHA:369891 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Hypoplasia of penis, Cataract, Short stature, Micrognathia, Cryptorchidism, Dental... |
ORPHA:85321 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Wide nasal bridge, Micrognathia |
ORPHA:1438 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Precocious puberty, Delayed puberty, Hepatoblastoma, Microphthalmia |
ORPHA:50 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Hypoplasia of the maxilla, Prominent nasal bridge, Micrognathia |
ORPHA:776 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Spina bifida, Micrognathia, Asplenia, Cryptorchidism, Bulbo... |
ORPHA:99776 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Moebius Syndrome |
|
Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Depressed nasal bridge, Micrognat... |
OMIM:157900 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... |
OMIM:101800 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Underdeveloped nasal alae, Cryptorchi... |
ORPHA:217346 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Short stature, Isosexual precocious puberty, Corneal opacity |
ORPHA:2788 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Retrognathia, Short stature |
OMIM:614583 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Micrognathia, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axilla... |
OMIM:619339 |
Aarskog-Scott Syndrome |
|
Short stature, Anteverted nares, Elevated circulating luteinizing hormone level, Bilateral crypto... |
OMIM:305400 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Hyperplasia of the maxilla |
OMIM:618587 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, True hermaphroditism, Anophthalmia, Cataract, Sclerocornea, Micr... |
ORPHA:564 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... |
OMIM:613451 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Cataract, Hypospadias, Short stature, Cryptorchidism, Microcornea, Mic... |
ORPHA:568 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta |
OMIM:601216 |
Intellectual Disability-Strabismus Syndrome |
|
Micropenis, Medullary nephrocalcinosis, Hypospadias |
ORPHA:363528 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Short stature, External genital hypoplasia, Corneal opacity, Cryptorchidism, Growth del... |
ORPHA:1867 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cataract, Choanal atresia... |
OMIM:603457 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Depressed nasal bridge, Intrauterine growth retardation |
ORPHA:2117 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... |
OMIM:619743 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Hyperplasia of the maxilla |
OMIM:613671 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Prominent nasal b... |
OMIM:243605 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microphthalmia, Conjunctiva... |
OMIM:167730 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Short stature, Microcornea, Hyperkeratosis, Keratoconjunctivitis sicca, Hypogonadism, M... |
OMIM:601675 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Microphthalmia, Micropenis, De... |
ORPHA:335 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... |
ORPHA:405 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose, Cataract |
ORPHA:90653 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Micrognathia, Cryptorchidism, Microcornea, Abnormal fallopian tube mo... |
ORPHA:3412 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Cowden Syndrome 6 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hydrocele testis,... |
OMIM:615109 |
Gorlin Syndrome |
|
Mandibular prognathia, Cataract, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchidism, Wi... |
ORPHA:377 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Cataract, Short stature, Depressed nasal bridge, Pseudohypoparathyroid... |
OMIM:612463 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Persistence of primary teeth, Carious teeth, Postnatal growth retardation, Bilater... |
ORPHA:93325 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Short stature, Hypoplasia of the maxilla, Malar flattening, Abnormally prominent ... |
OMIM:109120 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hyperopic astigmatism |
ORPHA:397973 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Cataract, Depressed nasal bridge, Hyperkeratosis, Microphthalmia |
OMIM:612379 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Cataract, Short stature, Depressed nasal bridge... |
OMIM:268400 |
Jacobsen Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Annular panc... |
OMIM:147791 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Micrognathia, Bulbous nose, Developmental cataract, Microphthalmia |
OMIM:614219 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Bulbous nose, Retrognathia |
OMIM:619981 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Delayed eruption of teeth, Encephalocele, Hypospadias, Short stature, Choanal atre... |
OMIM:619148 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p... |
ORPHA:96334 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature |
OMIM:608154 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Short stature, Prominent nasal bridge |
ORPHA:2662 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Cataract, Short stature, Bulbous nose, Wide nasal bridge, Astigmatism, Microph... |
OMIM:618571 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Cataract, Hypospadias... |
ORPHA:93357 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... |
ORPHA:369837 |
Rodrigues Blindness |
|
Narrow nasal bridge, Short stature, Sclerocornea, Microcornea, Microphthalmia |
OMIM:268320 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... |
OMIM:613805 |
Cowden Syndrome 5 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hydrocele testis,... |
OMIM:615108 |
Frontorhiny |
|
Encephalocele, Cataract, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Midline nasal gr... |
ORPHA:391474 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Short stature, Prominent nasal bridge, Micrognathia, Hypoplasia of the max... |
OMIM:300534 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
Cadds |
|
Elevated hepatic transaminase, Cataract, Cholangitis, Micrognathia, Cholestasis, Intrauterine gro... |
ORPHA:369942 |
Harrod Syndrome |
|
Cataract, Hypospadias, Long nose, Cryptorchidism, Dental malocclusion, Intrauterine growth retard... |
ORPHA:2115 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormal nasal morphology, Cryptorchidism... |
ORPHA:404440 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Persistence of primary teeth, Dental malocclusion, Wide nasal bridge, Ectopia pupillae,... |
OMIM:618727 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:614082 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Zellweger Syndrome |
|
Hepatomegaly, Cataract, Short stature, Hypospadias, Corneal opacity, Micrognathia, Brushfield spo... |
ORPHA:912 |
Carpenter Syndrome 1 |
|
Short stature, External genital hypoplasia, Depressed nasal bridge, Micrognathia, Precocious pube... |
OMIM:201000 |
Myhre Syndrome |
|
Abnormal penis morphology, Mandibular prognathia, Craniofacial hyperostosis, Severe short stature... |
ORPHA:2588 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Cataract |
OMIM:617255 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Short stature, Cataract, Disproportionate short-trunk short statu... |
ORPHA:85194 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... |
ORPHA:73224 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Cryptorchidism, Depressed nasal ridge, Wide nasal bridge, Hypogonadism... |
ORPHA:178303 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Micrognathia, Brushfield spots, Cryptorc... |
OMIM:214110 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Depressed nasal ridge, Microphthalmia, Short nose, Intrauterine growth... |
OMIM:300863 |
Bartter Syndrome Type 4 |
|
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... |
ORPHA:89938 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, Microphthalmia, Short nose |
ORPHA:163649 |
Cohen Syndrome |
|
Short stature, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, H... |
ORPHA:193 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia |
OMIM:601809 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism |
ORPHA:1307 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Short stature, Carious teeth, Cryptorchidism, Long nose, Intrauterine growth retarda... |
OMIM:617602 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Hypospadias, Sclerocornea, Cataract, Precocious puberty, Microcornea, E... |
OMIM:615877 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypospadias, Short stature, Prominent nasal bridge, Micrognathia, Cari... |
OMIM:223370 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Cataract, Depressed nasal bridge, Portal hyperte... |
OMIM:620005 |
Fetal Alcohol Syndrome |
|
Short stature, Anteverted nares, Micrognathia, Microphthalmia, Short nose, Intrauterine growth re... |
ORPHA:1915 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteini... |
ORPHA:3044 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis |
OMIM:240300 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Corneal opacity, Micrognathia |
OMIM:166300 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Tyrosinemia, Type I |
|
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid... |
OMIM:276700 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Short nose, Short stature |
OMIM:300887 |
Treacher-Collins Syndrome |
|
Encephalocele, Thyroid hypoplasia, Hypoplasia of penis, Small scrotum, Cataract, Abnormal dental ... |
ORPHA:861 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lens coloboma, Umbilical hernia, Microphthalmia, Retrognathia |
OMIM:618914 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Hypoplasia of the uterus, Microphthalmia, Vaginal atresia,... |
OMIM:617914 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Abnormal liv... |
ORPHA:456312 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Hypospadias, Optic nerve hypopl... |
OMIM:206900 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Marshall Syndrome |
|
Cataract, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of th... |
ORPHA:560 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Megalo... |
OMIM:211380 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Hepatic fibrosis, Apl... |
OMIM:619879 |
Oculoauricular Syndrome |
|
Cataract, Short mandibular rami, Sclerocornea, Phthisis bulbi, Spina bifida occulta, Developmenta... |
OMIM:612109 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, Depressed nasal bridge, Anteverted nares, Bulbous nose, Microphthalmia, Short nose |
OMIM:614105 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Hypospadias, Anteverted nares, Microcornea, Microphthalmia, Retrognathia, Clitoral hype... |
OMIM:616449 |
Monosomy 18P |
|
Short stature, Micrognathia, Carious teeth, Wide nasal bridge, Microphthalmia |
ORPHA:1598 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis |
OMIM:618005 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hypoplastic spleen, Aniridia, Microphthalmia, Micropenis |
OMIM:602361 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis |
ORPHA:53715 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Short stature, Choanal atresia, Midnasal stenosis,... |
OMIM:147250 |
Cowden Syndrome 1 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hydrocele testis,... |
OMIM:158350 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Increased circulatin... |
OMIM:110100 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Small scrotum, Hypospadias, Short stature, Prominent nasal bridge, Micrognathi... |
OMIM:613803 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Supernumerary nipple, Hypoplasia of the maxilla, Wide nasal bridge, Palmoplantar ker... |
OMIM:106260 |
Trisomy 18 |
|
Microretrognathia, Cataract, Short stature, Choanal atresia, Spina bifida, Cryptorchidism, Anence... |
ORPHA:3380 |
Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Hepatomegaly, Severe short stature, Prominent nasal bridge, ... |
OMIM:133540 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Anophthalmia, Corneal dystrophy, Hypoplasia of the maxilla, Cryptorchidism... |
ORPHA:1101 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Cataract, Prominent nasal bridge, Ectopia lentis, Bifid nasal tip, Mic... |
ORPHA:2712 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cataract, Optic disc hypoplasia, Optic nerve hypoplasia, Proportionate short stature, Broad nasal... |
ORPHA:79345 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:601678 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Short stature, Severe short stature, Micrognathia, Cryptorchidism, Bilateral microp... |
OMIM:601186 |
Wagro Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Aniridia, Malar flattening, Hypop... |
OMIM:612469 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Cleft mandible,... |
ORPHA:364577 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla |
OMIM:246560 |
Skraban-Deardorff Syndrome |
|
Hyperplasia of the maxilla, Depressed nasal bridge, Anteverted nares, Micrognathia |
OMIM:617616 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Choanal atresia, Proportionate short stature, Micrognathia, Underdeveloped nasal ala... |
ORPHA:2108 |
Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria |
ORPHA:428 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Abnormal lens mor... |
ORPHA:363417 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Wide nose, Elevated circulating aspartate aminotransferase concent... |
OMIM:300280 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Micrognathia,... |
ORPHA:2839 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Developmental cataract |
OMIM:613155 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Wide nose, Cataract, Hypospadias, Short stature, Anteverted nares, Micrognathia, P... |
OMIM:257300 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Prominent nasal bridge |
OMIM:300676 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism, Microcornea, Microp... |
ORPHA:899 |
Pseudoxanthoma Elasticum |
|
Nephrocalcinosis |
ORPHA:758 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Peters ... |
OMIM:236670 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Ocular albinism, Wide nasal bridge, Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Short stature, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the ... |
OMIM:129400 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Cataract, Short stature, Hypoplasia of the maxilla, Cario... |
ORPHA:1775 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Corneal opacity, Prominent nasal bridge, Mi... |
OMIM:601812 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Bulbous nose |
OMIM:618737 |
Pycnodysostosis |
|
Obtuse angle of mandible, Rhizomelia, Decreased response to growth hormone stimulation test, Dela... |
ORPHA:763 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cryptorchidism, Bulbous nose, Microphthalmia, Overhanging nasal tip, Low hanging columella |
OMIM:618494 |
1Q21.1 Microdeletion Syndrome |
|
Cataract, Short stature, Cryptorchidism, Bulbous nose, Wide nasal bridge, Microphthalmia, Iris co... |
ORPHA:250989 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Cataract, Prominent nasal bridge, Proportionate short stature, Micrognathia, Underde... |
OMIM:234100 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Short stature, Anteverted nares, Depressed nasal bridge, Choanal... |
OMIM:146510 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Bulbous nose, Hypoplastic labia majora, Microphthalmia, Iris coloboma |
ORPHA:2328 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Cohen Syndrome |
|
Short stature, Prominent nasal bridge, Decreased response to growth hormone stimulation test, Mic... |
OMIM:216550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Cataract, Corneal opacity |
OMIM:613153 |
Bartsocas-Papas Syndrome 1 |
|
Pterygium, Absent external genitalia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Microg... |
OMIM:263650 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Micrognathia |
OMIM:619074 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Broad nasal tip, Supernumerary nipple, C... |
OMIM:612530 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Conjunctivitis, Iris coloboma, Convex nasal ridge |
ORPHA:207 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Hypoparathyroidism, Cataract, Short stature, Abnormal dental enamel mo... |
ORPHA:2238 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Cataract, Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridge, Gr... |
OMIM:614052 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Depressed nasal bridge, Micrognathia, Prominent nose, Cryptorchidism, Bulbous nose... |
OMIM:300895 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Cataract, Anteverted nares, Micrognathia, Intrahepatic cholest... |
ORPHA:46059 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:241200 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Hypoplasia of... |
OMIM:180500 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Anophthalmia, Cataract, Delay... |
ORPHA:90321 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enlarged kidney, ... |
ORPHA:79259 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Sclerocornea, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Abnorma... |
ORPHA:2556 |
Diaphanospondylodysostosis |
|
Depressed nasal bridge, Micrognathia, Disproportionate short-trunk short stature, Depressed nasal... |
OMIM:608022 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis |
OMIM:260400 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge, Choanal atresia |
ORPHA:93262 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Depressed nasal bridge, Malar prominence, Hypersplenism, Splenomegaly, Jaundi... |
ORPHA:231226 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Severe short stature, Hypospadias, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:2554 |
Rabson-Mendenhall Syndrome |
|
Nephrocalcinosis, Long penis |
ORPHA:769 |
Roberts Syndrome |
|
Cataract, Micrognathia, Postnatal growth retardation, Cryptorchidism, Underdeveloped nasal alae, ... |
ORPHA:3103 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Depressed nasal bridge |
OMIM:602501 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Externa... |
ORPHA:141099 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly, Micrognathia |
OMIM:614526 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Intrauterine gr... |
OMIM:603194 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Short stature, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee,... |
OMIM:309801 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Choanal atresia, Micrognathia, Absent external genita... |
OMIM:273395 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Short nose |
ORPHA:79113 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... |
OMIM:219800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Prominent nasal tip, Hypospadias, Anteverted nares, Developmental cataract... |
ORPHA:464738 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Sclerocornea, Hypoplasia of the maxilla, Astigmatism, Umbilical hernia, Aplasia/Hy... |
ORPHA:2095 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Short stature, Ectopia lentis, Recurrent sinusitis, Umbilical hernia, Narrow maxilla |
OMIM:130000 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:342 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Long nose, ... |
OMIM:309520 |
Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Hypospadias, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cryp... |
OMIM:615546 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Choanal stenosis, Iris coloboma, Short stature, Depressed nasal bri... |
OMIM:620186 |
Mosaic Variegated Aneuploidy Syndrome |
|
Wide nose, Cataract, Short stature, Vaginal neoplasm, Corneal opacity, Micrognathia, Depressed na... |
ORPHA:1052 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Atelosteogenesis, Type Iii |
|
Depressed nasal bridge, Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Malar flattening |
OMIM:108721 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,... |
OMIM:618150 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Short stature, Depressed nasal bridge, Microcornea, Severe postnatal growth retardation... |
ORPHA:35173 |
Split Lower Lip |
|
Narrow maxilla |
OMIM:183400 |
Mosaic Trisomy 1 |
|
Microretrognathia, Hepatic agenesis, Depressed nasal bridge, Wide nasal bridge, Opacification of ... |
ORPHA:1692 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, Iris co... |
OMIM:169550 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Prominent nasal bridge, Micrognathia, Bilateral microphthalmos, Intrauterine growt... |
OMIM:610758 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge |
ORPHA:1540 |
Fryns Syndrome |
|
Hypospadias, Corneal opacity, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, ... |
ORPHA:2059 |
Fanconi Anemia |
|
Micrognathia, Abnormality of the liver, Abnormality of the uterus, Hypospadias, Short stature, Sp... |
ORPHA:84 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Corneal opacity, Anteverted nares, Depressed nasal bridge, Underdeveloped na... |
ORPHA:920 |
Isolated Ectopia Lentis |
|
Mandibular prognathia, Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening |
ORPHA:1885 |
Cousin Syndrome |
|
Rhizomelia, Micrognathia, Ambiguous genitalia, female, Disproportionate short stature, Microcorne... |
OMIM:260660 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Intrauterine gr... |
OMIM:611134 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b... |
OMIM:616367 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract, Hypogonadism, Short stature |
OMIM:610651 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphth... |
ORPHA:370959 |
Crouzon Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Keratitis, Conjunctivitis, Deviated nasal septu... |
OMIM:123500 |
Frontofacionasal Dysplasia |
|
Cataract, Underdeveloped nasal alae, Microcornea, Midline defect of the nose, Bifid nose, Cranium... |
OMIM:229400 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Short stature, Depressed nasal bridge, Proportionate short stature, Ectopia lentis, Hyp... |
OMIM:277600 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:212550 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Depressed nasal bridge, Malar prominence, Hypersplenism, Spleno... |
ORPHA:231214 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Hypospadias, Rhizomelia, ... |
OMIM:166250 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Rhizomelia, Postnatal growth retardation, Concave nasal ridge, Microphthalmia, Malar fl... |
OMIM:302960 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Wide nose, Short stature, Short nose |
OMIM:614261 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Mend Syndrome |
|
Cataract, Short stature, Prominent nasal bridge, Micrognathia, Cryptorchidism, Abnormal nasal bri... |
ORPHA:401973 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Hypoplasia of the ma... |
ORPHA:50814 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Short stature, Abnormal dental enamel morphology, Hypoplasia of the maxilla,... |
ORPHA:1798 |
Chromosome 13Q14 Deletion Syndrome |
|
Supernumerary nipple, Micrognathia, Cryptorchidism, Bulbous nose, Growth delay, Umbilical hernia,... |
OMIM:613884 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior... |
OMIM:221900 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Wide nasal bridge, Depressed nasal tip, Growth delay, Aplasia of the uterus, Microp... |
OMIM:614083 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Choanal stenosis, Micrognathia |
OMIM:241310 |
Monosomy 13Q14 |
|
Cataract, Short stature, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Microphthalmia,... |
ORPHA:1587 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ast... |
OMIM:609053 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia |
OMIM:614833 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Short stature, Testicular neoplasm, Elevated circulating growth ho... |
ORPHA:249 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Antecubital pterygium, Hypopla... |
ORPHA:40366 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Short stature, Depressed nasal bridge, Micrognathia, Carious teeth, C... |
OMIM:616734 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Cataract, Short stature, Antever... |
ORPHA:192 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Short nose, Wide nasal bridge |
OMIM:218000 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Short stature, Anteverted nares, Micrognathia, Choanal atresia, Cryptorchidism, Bulb... |
OMIM:616975 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Short stature, Narrow nasal ridge, Micrognathia, Prominent nose, Hypoplasia of the iris... |
OMIM:251300 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Prominent nose, Micrognathia, Mi... |
ORPHA:435638 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Cataract, Short stature, Supernumerary nipple... |
OMIM:308300 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Anophthalmia, Anteverted nares, Choanal atresia, Aplasia/Hypo... |
ORPHA:2162 |
Joubert Syndrome 14 |
|
Encephalocele, Prominent nasal bridge, Meningocele, Growth delay, Microphthalmia, Malar flattening |
OMIM:614424 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma |
ORPHA:231736 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... |
ORPHA:91495 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Natal tooth, Occipital encephalocele, External genital hypoplasia, Malformation... |
OMIM:249000 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Bulbous nose, Convex nasal ridge |
OMIM:614437 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:613456 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:608149 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Depressed nasal bridge, Supernumerary nipple, Bulbous nose, Wide nasal bridge, Microphthalmia, Re... |
OMIM:620098 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Hyperplasia of the maxilla, Accessory spleen, Hypospadias, Cryptorchidism, Long pen... |
OMIM:268300 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallu... |
OMIM:603467 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Micrognathia, Precocious puberty, Cryptorchidism, Labial hypertrophy, Postnatal gro... |
ORPHA:96191 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia |
OMIM:613001 |
3Q29 Microdeletion Syndrome |
|
Cataract, Hypospadias, Prominent nasal bridge, Microphthalmia, Short nose |
ORPHA:65286 |
7Q31 Microdeletion Syndrome |
|
Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Postnatal growth retardation, Intrau... |
ORPHA:251061 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Recurrent upper respiratory... |
ORPHA:293939 |
Heart And Brain Malformation Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Growth delay, Microphthalmia |
OMIM:616920 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Cataract, Short stature, Abnormal dental enamel morphology, Corneal op... |
ORPHA:464 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Cataract, Anteverted nares, Narrow nose, Underdeveloped nasal alae, Carious ... |
OMIM:164200 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Absent nipple, Anteverted nares, Mic... |
OMIM:209885 |
2Q31.1 Microdeletion Syndrome |
|
Short stature, Micrognathia, Cryptorchidism, Bulbous nose, Microphthalmia, Iris coloboma |
ORPHA:251014 |
Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria |
ORPHA:90041 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Short stature, Depressed nasal bridge, Proportionate short stature, Lens ... |
OMIM:608328 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Anophthalmia, Hypospadias, Short stature, Septate vagina, Persistence ... |
OMIM:300166 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Nablus Mask-Like Facial Syndrome |
|
Anteverted nares, Depressed nasal bridge, Hypoplasia of the maxilla, Cryptorchidism, Wide nasal b... |
OMIM:608156 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Growth delay, Peters anomaly, Microphthalmia |
OMIM:120200 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Trichothiodystrophy |
|
Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchidism, Bilateral microphthalm... |
ORPHA:33364 |
Williams Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr... |
ORPHA:904 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Cataract, Hypospadias, Short stature, Phimosis, Micrognathia, Bulbous nose... |
OMIM:309500 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Broad nasal tip, Bifid nasal tip, Microphthalmia, Vaginal atresia |
OMIM:248450 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Thick nasal alae, Anteverted nares, Wide nasal bridge |
ORPHA:1942 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/Hypopl... |
ORPHA:306542 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Micrognathia, Microcornea, Hypoplastic nipples, Microphthalmia |
OMIM:156610 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Short stature, Wide nasal bridge, Microphthalmia, Malar flat... |
OMIM:201180 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Hyperplasia of the maxilla |
ORPHA:313892 |
Saethre-Chotzen Syndrome |
|
Depressed nasal bridge, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptor... |
ORPHA:794 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Avascular necrosis of the capital femoral epiphysis, Abnormal retinal v... |
ORPHA:247691 |
Cockayne Syndrome |
|
Lentiglobus, Hepatomegaly, Cryptorchidism, Abnormal cornea morphology, Delayed puberty, Elevated ... |
ORPHA:191 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short stature, Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Mi... |
OMIM:170390 |
Neu-Laxova Syndrome 1 |
|
Wide nose, Cataract, Hydranencephaly, Spina bifida, Micrognathia, Bifid uterus, Cryptorchidism, D... |
OMIM:256520 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Wide nasal bridge, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Arthrogryposis Multiplex Congenita 5 |
|
Medullary nephrocalcinosis |
OMIM:618947 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypopl... |
ORPHA:87 |
Refsum Disease |
|
Splenomegaly, Microphthalmia, Cataract, Anosmia |
ORPHA:773 |
Charge Syndrome |
|
Bifid scrotum, Delayed eruption of teeth, Anophthalmia, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:138 |
Fryns Syndrome |
|
Bifid scrotum, Microretrognathia, Ectopic pancreatic tissue, Hypospadias, Anteverted nares, Crypt... |
OMIM:229850 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal bridge, Gro... |
OMIM:601390 |
Myhre Syndrome |
|
Mandibular prognathia, Cataract, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla... |
OMIM:139210 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Short stature, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/st... |
ORPHA:314679 |
Adams-Oliver Syndrome |
|
Encephalocele, Cataract, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Microphthalmia |
ORPHA:974 |
Stevenson-Carey Syndrome |
|
Prominent nasal tip, Microphthalmia, Anteverted nares, Underdeveloped nasal alae |
OMIM:611961 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Cataract, Abnormally large globe |
OMIM:615249 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hyperplasia of the maxilla, Prominent nose, Micrognathia |
OMIM:620194 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Cataract, Optic nerve hypoplasia, Peters anomaly, Microphthalmia, Retrognathia |
OMIM:614643 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten... |
OMIM:194050 |
Leprechaunism |
|
Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged kidney |
ORPHA:508 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Co... |
ORPHA:101330 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Prominent nose, Abnormal mandible condylar process morphology, Hyperplasia of the maxilla, Abnorm... |
ORPHA:2976 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Ovarian fibroma, Cataract, Spina bifida, Wide nasal bridge, Ovarian carcin... |
OMIM:109400 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Fraser Syndrome |
|
Encephalocele, Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia, Cleft ala nasi, Dep... |
ORPHA:2052 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Hypoplasia of the thymus, Abnormality of the uterus, Hypoparathyroidism, Hypospadia... |
ORPHA:567 |
Norrie Disease |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ect... |
ORPHA:649 |
Meckel Syndrome, Type 5 |
|
Anencephaly, Microphthalmia, Occipital encephalocele, Bile duct proliferation |
OMIM:611561 |
Mohr Syndrome |
|
Short stature, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, ... |
OMIM:252100 |
Monosomy 9P |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Choanal atresia, Cryptorchid... |
ORPHA:261112 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Choana... |
OMIM:101600 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Micrognathia, Bifid uterus, Anencephaly, Stillbirth, Midline defec... |
OMIM:236680 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Anteverted nares |
ORPHA:228396 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Ovarian fibroma, Cataract, Umbilical hernia, Microphthalmia, Short nose |
ORPHA:77301 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Mild postnatal growth retardation, Carious... |
ORPHA:90324 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Anisocoria, Male urethral meatus stenosis,... |
OMIM:613406 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Aplastic z... |
OMIM:616462 |
Cat Eye Syndrome |
|
Short stature, Micrognathia, Biliary atresia, Umbilical hernia, Microphthalmia, Iris coloboma |
OMIM:115470 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Prominent... |
OMIM:180849 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Choanal atresia, Bilateral microphthalmos, Depressed nasal ridge, Ethmoid... |
OMIM:607597 |
Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... |
OMIM:136140 |
Deafness, X-Linked 7 |
|
Wide nasal bridge, Unilateral microphthalmos |
OMIM:301018 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hypoplastic labia minora, Hypoplastic la... |
OMIM:224690 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Short stature, Anteverted nares, Decreased response to growth hormone stimulation test... |
OMIM:213980 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Short stature, Persistence of primary teeth, Hypoplasia of the maxil... |
ORPHA:37553 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Short stature, Leukocoria, Microphthalmia, Intrauterine growth retardation |
ORPHA:2714 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Microphthalmia |
OMIM:227650 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Acute hepatic failure, Corneal opacity, Abnormal dental enamel morphology, S... |
ORPHA:2092 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Absent nasal septal cartilage, M... |
OMIM:157170 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Microretrognathia, Hypospadias, Optic nerve hypoplasia, Short stature, Mic... |
ORPHA:508498 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature, Leukocoria |
OMIM:257910 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Overhanging nasal tip |
OMIM:619142 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Severe short stature, Hypospadias, Optic nerve hypoplasia, Prominent nasal bri... |
ORPHA:468631 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Nephrocalcinosis, Micropenis |
OMIM:617402 |
Nager Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Abnormal nasal morphology, Micrognathia |
ORPHA:245 |
Momo Syndrome |
|
Delayed eruption of teeth, Short stature, Bilateral microphthalmos, Dental malocclusion, Taurodon... |
ORPHA:2563 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Narrow nasal bridge, Peripheral opacification of the cornea, Short sta... |
OMIM:259600 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Bulbous nose, C... |
OMIM:608670 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla, Bulbous nose, Anteverted nares |
ORPHA:481152 |
Yunis-Varon Syndrome |
|
Narrow nasal base, Cataract, Hypospadias, Short stature, Sclerocornea, Micrognathia, Abnormality ... |
ORPHA:3472 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Microphthalmia, Intrauterine growt... |
OMIM:227645 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism, Short stature |
OMIM:600901 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Choanal atresia, Absence of Stens... |
OMIM:129900 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis |
OMIM:264480 |
Branchiooculofacial Syndrome |
|
Short nasal septum, Anophthalmia, Hypospadias, Cataract, Depressed nasal bridge, Micrognathia, Po... |
OMIM:113620 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Anteverted nares, Hypoplasia of the maxilla, Hyperkeratosis, Keratoconjunctivitis sicc... |
ORPHA:238468 |
Greenberg Dysplasia |
|
Hepatomegaly, Rhizomelia, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Large ... |
OMIM:215140 |
Fraser Syndrome 1 |
|
Encephalocele, Wide nose, Anophthalmia, Hypospadias, Corneal opacity, Cleft ala nasi, Depressed n... |
OMIM:219000 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Sclerocornea, Thyroid C cell hyperplasia, Delayed eruption of primary teeth |
OMIM:300952 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Corneal scarring, Developmental cata... |
OMIM:309000 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Unilateral microphthalmos |
OMIM:615085 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Micrognathia |
OMIM:617729 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Doors Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... |
ORPHA:79500 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Choanal atresia, Absence of Stens... |
OMIM:604292 |
Atelis Syndrome 2 |
|
Prominent nose, Micrognathia, Bulbous nose, Developmental cataract, Microphthalmia |
OMIM:620185 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Short stature, Depressed nasal bridge, Absent nipple, Micro... |
OMIM:612289 |
Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
Shprintzen-Goldberg Syndrome |
|
Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Umbilical hernia, Retr... |
ORPHA:2462 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia, Depressed nasal bridge, Hypoplastic male external genitalia |
OMIM:608091 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, U... |
OMIM:182212 |
Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Blue irides |
OMIM:105830 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Goldberg-Shprintzen Syndrome |
|
Prominent nasal bridge, Hypoplasia of the maxilla, Corneal erosion, Bulbous nose, Wide nasal brid... |
OMIM:609460 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Delayed eruption of teeth, Prominent nasal tip, Cataract, Hypospadias, Short statu... |
OMIM:235730 |
Sarcoidosis |
|
Renal insufficiency, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointerstitial nephritis |
ORPHA:797 |
Lymphedema-Distichiasis Syndrome |
|
Micrognathia, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal ulceration |
OMIM:153400 |
Pallister-Hall Syndrome |
|
Small scrotum, Depressed nasal ridge, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of ... |
ORPHA:672 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Narrow nasal bridge, Anophthalmia, Short stature, Cleft ala nasi, Supe... |
OMIM:305600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hepatomegaly |
OMIM:619053 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Microphthalmia, Iris coloboma, Supernumerary nipple |
ORPHA:1236 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Severe short stature, Rhizomelia, Corneal opacity, Ectopia pupillae, Lens subluxation, Microphtha... |
ORPHA:85167 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Umbilical hernia, Vaginal hernia |
ORPHA:96129 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Cataract, Optic disc hypoplasia, Choanal atresia, Choanal stenos... |
OMIM:607323 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Severe short stature, Malar flattening |
OMIM:231070 |
Charge Syndrome |
|
Anophthalmia, External genital hypoplasia, Decreased response to growth hormone stimulation test,... |
OMIM:214800 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Conical ... |
OMIM:261540 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Absent nipple, Depressed nasal bridge, Absent external genitalia, Hypoplas... |
ORPHA:1299 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract |
OMIM:616538 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Papillorenal Syndrome |
|
Microphthalmia, Cataract, Short stature, Lens luxation |
OMIM:120330 |
Degcags Syndrome |
|
Hepatomegaly, Hypospadias, Prominent nasal bridge, Anteverted nares, Micrognathia, Prominent nose... |
OMIM:619488 |
Generalized Arterial Calcification Of Infancy |
|
Nephrocalcinosis, Hyperphosphaturia, Medullary nephrocalcinosis, Cortical nephrocalcinosis |
ORPHA:51608 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Annular pancreas, Microphthalmia, ... |
OMIM:227646 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Postnatal growth retardation, Microcornea, Microphthalmia, Iris ... |
ORPHA:959 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1553 |
Fraser Syndrome 2 |
|
Wide nose, Underdeveloped nasal alae, Hypoplasia of the thymus, Ambiguous genitalia, Microphthalmia |
OMIM:617666 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Mycophenolate Mofetil Embryopathy |
|
Bifid nose, Microphthalmia, Iris coloboma, Micrognathia |
ORPHA:268249 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Polycystic ovaries, Microphthalmia, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia |
OMIM:617244 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Severe short stature, Short stature, Developmental cataract, Microphthalmia |
OMIM:127000 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Anophthalmia, Abnormality of the spleen, Perineal fistula, Growth delay, Rectovagin... |
ORPHA:2538 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Van Den Ende-Gupta Syndrome |
|
Depressed nasal bridge, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, Underdeveloped nas... |
OMIM:600920 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... |
OMIM:218330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Micrognathia, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal strom... |
OMIM:253280 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Stickler Syndrome |
|
Cataract, Short stature, Abnormal dental enamel morphology, Anteverted nares, Micrognathia, Hypop... |
ORPHA:828 |
Liver Disease, Severe Congenital |
|
Micrognathia, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... |
OMIM:619991 |
Teebi-Shaltout Syndrome |
|
Short stature, Underdeveloped nasal alae, Broad nasal tip, Wide nasal bridge, Microphthalmia |
OMIM:272950 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Mild postnatal growth retardation, Micrognathia, Bilateral cryptorchidism,... |
OMIM:150230 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Short stature, Brushfield spots, Lens coloboma, Blue irides, M... |
OMIM:619539 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia... |
OMIM:609049 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia, Cataract |
OMIM:253800 |
Treacher Collins Syndrome 1 |
|
Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland m... |
OMIM:154500 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Cataract, Hypospadias, Short stature, Choanal atr... |
ORPHA:199 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Small scrotum, Female hypogonadism, Sclerocornea, Micrognathia, Cryptorchidism, Mic... |
OMIM:607932 |
Oculotrichoanal Syndrome |
|
Bifid nasal tip, Microphthalmia, Anophthalmia |
ORPHA:2717 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Severe short stature, Anophthalmia, Anteverted nares, Cataract, Wide nasal bridge, Mic... |
ORPHA:2526 |
Steinfeld Syndrome |
|
Microphthalmia, Iris coloboma, Aplasia of the nose, Absent gallbladder |
OMIM:184705 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Short stature, Cataract, ... |
ORPHA:857 |
Linear Nevus Sebaceus Syndrome |
|
Growth delay, Microphthalmia, Adenoma sebaceum, Iris coloboma |
ORPHA:2612 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, ... |
OMIM:619534 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Cataract, Anteverted nares, Sutural cataract, Prominent nasal bridge, Micr... |
OMIM:612474 |
Saethre-Chotzen Syndrome |
|
Short stature, Hypoplasia of the maxilla, Long nose, Cleft of chin, Buphthalmos, Malar flattening... |
OMIM:101400 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Developmental cataract |
OMIM:606519 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Ectopic thyroid, Microphthalmia, H... |
ORPHA:42775 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Short stature, Phthisis bulbi, Absent anterior chamber of the eye, Microp... |
OMIM:259770 |
Holoprosencephaly 1 |
|
Short stature, Proboscis, Aplasia of the nose, Microphthalmia, Micropenis |
OMIM:236100 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Apla... |
OMIM:305100 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla |
OMIM:313500 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Mandibular prognathia, Asplenia, Abnormal pupil morphology, Microcornea, Webbed pe... |
ORPHA:261552 |
Zttk Syndrome |
|
Absent gallbladder, Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Wide nasal ... |
OMIM:617140 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Cataract, Depressed nasal bridge, Wide nose, Urethrovaginal fistula, Microgn... |
ORPHA:93271 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Mandibular prognathia, Asplenia, Webbed penis, Micropenis, Broad columella, Iris c... |
ORPHA:2152 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele, Iris coloboma |
OMIM:601707 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Mandibular prognathia, Asplenia, Webbed penis, Micropenis, Iris coloboma, Hypospad... |
ORPHA:261537 |
Primrose Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Anteverted nares, Depressed nasal bridge, Bilatera... |
OMIM:259050 |
Faciocardiomelic Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Hyperplasia of the m... |
OMIM:612731 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Increased axial length of the globe, Pine... |
ORPHA:513456 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Iris coloboma, Aplasia of the nose, Absent gallbladder |
ORPHA:3186 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Adrenal pheochromocyto... |
ORPHA:892 |
Pmm2-Cdg |
|
Mandibular prognathia, Elevated hepatic transaminase, Cataract, Hypogonadotropic hypogonadism, Pr... |
ORPHA:79318 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Short stature, Depressed nasal bridg... |
OMIM:614188 |
8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Branchial cyst, Infancy onset short-trunk short stature, Ectopic posterior pit... |
ORPHA:508488 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hypospadias, Cryptorchidism, Agenesis of maxillary lateral incisor, Growth delay, M... |
OMIM:309800 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... |
OMIM:175780 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Depressed nasal bridge, Optic nerve hypoplasia, Proportionate short stature, ... |
ORPHA:500150 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Branchial anomaly... |
OMIM:164210 |
Singleton-Merten Syndrome 1 |
|
Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the toot... |
OMIM:182250 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Disproportionate short-trunk short stature |
OMIM:300106 |
Nut Midline Carcinoma |
|
Pancreatic squamous cell carcinoma, Pancreatoblastoma |
ORPHA:443167 |