Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Blue Diaper Syndrome |
|
Nephrocalcinosis |
OMIM:211000 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Medullary nephrocalcinosis, Polyuria, Nephrocalcinosis, Hypercalciuria |
OMIM:616963 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Leydig Cell Hypoplasia |
|
Primary amenorrhea, Testicular gonadoblastoma, Ambiguous genitalia, Female hypogonadism, Hyoplasi... |
ORPHA:755 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, Hypogonadism, Short stature, Microcornea, Cataract, Microphthalmia, Growth delay |
ORPHA:2528 |
Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
Hypercalcemia, Infantile, 1 |
|
Medullary nephrocalcinosis, Polyuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria |
OMIM:143880 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... |
OMIM:300555 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting |
ORPHA:564178 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Cryptorchidism |
OMIM:274205 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Anophthalmia, Wide nasal bridge, Bicornuate uterus, Micrognathia, Broad nasal tip, ... |
OMIM:615524 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
Cofs Syndrome |
|
Wide nasal bridge, Hypogonadism, Abnormal nasal morphology, Micrognathia, Short stature, Cataract... |
ORPHA:1466 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Nephrocalcinosis, Nephrolithiasis, Distal renal tubular acidosis |
OMIM:179800 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Spastic Paraparesis And Deafness |
|
Cataract, Short stature, Hypogonadism |
OMIM:312910 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Convex nasal ridge, Prominent nose, Micrognathia, Developmental cataract, Cataract, Microphthalmi... |
OMIM:610756 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Mmep Syndrome |
|
Mandibular prognathia, Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Hypercalciuria, Distal renal tubular acidosis |
OMIM:602722 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Micrognathia, Malar prominence, Microcornea, Cataract, Microphthalmia, Hypogonadot... |
ORPHA:48431 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Mandibular condyle hypoplasia, Ambiguous genitalia, female, Hypop... |
ORPHA:2975 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Prominent nose, Short stature, Micrognathia, Microcornea, Cataract, Microphthalmia, Intrauterine ... |
OMIM:616171 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Warburg Micro Syndrome 1 |
|
Wide nasal bridge, Short stature, External genital hypoplasia, Micrognathia, Developmental catara... |
OMIM:600118 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hepatic failure, Prominent nose, Wide nasal bridge, Short stature, Abnormality of the male genita... |
OMIM:614886 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Microphthalmia, Intrauterine growth retardation |
OMIM:616570 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Corneal opacity, Hepatomegaly, Microcornea |
ORPHA:2432 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly, Retinal coloboma |
OMIM:258865 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Retinal d... |
OMIM:607143 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency |
OMIM:204690 |
Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hyperphosphaturia, Renal insufficiency, Hypercalciuria |
ORPHA:99879 |
Wagr Syndrome |
|
Ambiguous genitalia, Short stature, Aplasia/Hypoplasia of the iris, Micrognathia, Cataract, Crypt... |
ORPHA:893 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Gombo Syndrome |
|
Delayed puberty, Microphthalmia |
OMIM:233270 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... |
OMIM:248190 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Mandibular prognathia, Cryptorchidism, Microcornea |
OMIM:601349 |
Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... |
OMIM:300009 |
Melanocytic Nevus Syndrome, Congenital |
|
Narrow nasal ridge, Prominence of the premaxilla, Short nose, Broad nasal tip, Anteverted nares |
OMIM:137550 |
Primary Hyperoxaluria Type 1 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, He... |
ORPHA:93598 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas phys... |
ORPHA:93111 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypercalciuria |
OMIM:601198 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis |
OMIM:615633 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Microphthalmia, Hepatomegaly, Cryptorchidism, Neonatal death |
OMIM:613730 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... |
OMIM:193220 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Isothenuria, Distal renal tubular acidosis |
OMIM:611590 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Short stature, Hypospadias, Delayed puberty, Microphthalmia, Hypogonadotropic hypog... |
ORPHA:141333 |
Wilson-Turner Syndrome |
|
Short stature, Micrognathia, Malar prominence, Cataract, Broad nasal tip, Cryptorchidism, Hypogon... |
ORPHA:3459 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract |
OMIM:604219 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine |
ORPHA:94086 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Rhizomelia, Wide nasal bridge, Micrognathia, Cataract, Microphthalmia |
ORPHA:93267 |
Otodental Syndrome |
|
Abnormal molar morphology, Delayed eruption of teeth, Pulp calcification, Taurodontia, Microcorne... |
ORPHA:2791 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Decreased testicular size, Mandibular prognathia, Hypoplasia of the maxilla, Short stature |
ORPHA:93950 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
Pierpont Syndrome |
|
Wide nose, Short stature, Short nose, Microcornea, Broad nasal tip, Microphthalmia, Cryptorchidis... |
OMIM:602342 |
Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Hypoplasia of the premaxilla, Short stature, Cryptorchidism, Corneal dystr... |
ORPHA:2673 |
Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
Seckel Syndrome 2 |
|
Prominent nose, Short stature, Micrognathia, Hypospadias, Microphthalmia, Growth delay |
OMIM:606744 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis |
OMIM:146200 |
Cataract 11, Multiple Types |
|
Cataract, Microphthalmia, Developmental cataract |
OMIM:610623 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Depressed nasal ridge, Wide nasal bridge, Prominence of the premaxilla, Anteverted nares, Malar f... |
ORPHA:2412 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Intrauterine growth retardation, Cryptorchidism |
ORPHA:2489 |
Congenital Varicella Syndrome |
|
Cataract, Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Hypomagnesemia 3, Renal |
|
Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiuria, Hematuria,... |
OMIM:248250 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, External genital hypoplasia, Cataract, Microphthalmia, Cryptorchidism |
ORPHA:363741 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... |
OMIM:201170 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Retinopathy, Abnormal pelvis bone ossification, Limb undergrowth, Short... |
ORPHA:1505 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Short mandibular condyles, Hypoplasia of the maxilla, Primary amenorrhea, Cl... |
OMIM:264270 |
Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Anterior pituitary hypoplasia, Decreased response to gr... |
OMIM:610829 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... |
OMIM:300554 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Bresek Syndrome |
|
Convex nasal ridge, Decreased testicular size, Optic nerve hypoplasia, Iris coloboma, Microphthal... |
ORPHA:85284 |
Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, S... |
OMIM:614753 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal mandible morphology, Abnormal maxilla morphology |
ORPHA:401942 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria |
OMIM:613404 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Microcornea |
OMIM:251505 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Cataract, Microphthalmia |
OMIM:278780 |
Warburg Micro Syndrome 3 |
|
Decreased testicular size, Micrognathia, Hypoplastic labia minora, Developmental cataract, Microc... |
OMIM:614222 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Decreased testicular size, Hypoplasia of the maxilla, Cryptorchidism, Prominent na... |
ORPHA:85279 |
Micro Syndrome |
|
Wide nasal bridge, Short stature, Micrognathia, Hypoplastic labia minora, Hypoplasia of penis, Cl... |
ORPHA:2510 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Wide nasal bridge, Hypoplastic frontal si... |
OMIM:136760 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Pierpont Syndrome |
|
Microcornea, Wide nasal ridge, Microphthalmia, Cryptorchidism, Malar flattening |
ORPHA:487825 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Cone/cone-rod dystrophy, Rhizomelia, Sh... |
OMIM:608940 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Absent nares, Ambiguous genitalia, Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hyp... |
ORPHA:2166 |
Rere-Related Neurodevelopmental Syndrome |
|
Micrognathia, Astigmatism, Iris coloboma, Peters anomaly, Hypospadias, Microphthalmia, Anteverted... |
ORPHA:494344 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Microphthalmia, Hypogonadism, Cryptorchidism |
OMIM:601794 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydac... |
ORPHA:1106 |
2Q24 Microdeletion Syndrome |
|
Growth delay, Cataract, Microphthalmia, Abnormality iris morphology |
ORPHA:1617 |
3Mc Syndrome 2 |
|
Wide nasal bridge, Prominence of the premaxilla, Hypospadias, Cryptorchidism, Depressed nasal tip... |
OMIM:265050 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria |
OMIM:616026 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
Axenfeld-Rieger Syndrome |
|
Posterior embryotoxon, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Hypoplasia of the maxil... |
ORPHA:782 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis |
OMIM:617105 |
Warburg Micro Syndrome 4 |
|
Short stature, Decreased testicular size, Prominent nasal bridge, Developmental cataract, Microco... |
OMIM:615663 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Short stature, Bilateral cryptorchidism, Developmental cataract, Cataract, Microphth... |
OMIM:616395 |
Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Hypoplastic labia majora, Developmental cataract, Microcornea, Short nose... |
OMIM:614225 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hyperchloriduria, Increased urinary potassium, Polyuria, Hypocalciuria, Impai... |
OMIM:607364 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Reduced renal corticomedullary diff... |
OMIM:208085 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Wide nose, Retrognathia, Decreased response to growth hormone stimulation test, Short stature, De... |
ORPHA:280679 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis |
OMIM:611087 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Short stature, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia |
OMIM:610023 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Moderate postnatal growth retardation, Hypoplasia of the nasal bone, Cataract, Hyperkeratosis wit... |
OMIM:118650 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis |
ORPHA:500533 |
Baraitser-Winter Syndrome 1 |
|
Retrognathia, Wide nasal bridge, Short stature, Short nose, Iris coloboma, Microphthalmia, Anteve... |
OMIM:243310 |
Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Developmental glaucoma, Megalocornea, Convex nasal ridge, Short nasal b... |
ORPHA:2409 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Microphthalmia, Cataract |
OMIM:610092 |
Joubert Syndrome 37 |
|
Wide nose, Wide nasal bridge, Short stature, Decreased testicular size, Microphthalmia, Anteverte... |
OMIM:619185 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Underdeveloped nasal alae, Encephalocele, Hypogonadism, Bifid nose, Depressed nasal bridge, Micro... |
ORPHA:228390 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... |
ORPHA:1031 |
Multiple Benign Circumferential Skin Creases On Limbs |
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Abnormality of the scrotum, Short stature, Micrognathia, Microcornea, Hypospadias, Microphthalmia... |
ORPHA:2505 |
Bartter Syndrome, Type 5, Antenatal, Transient |
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Polyuria, Medullary nephrocalcinosis, Hypercalciuria |
OMIM:300971 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Prominent nose, Supernumerary tooth, Microcornea, Cataract, Microphthalmia... |
ORPHA:627 |
Xk Aprosencephaly Syndrome |
|
Abnormal nostril morphology, Abnormal external genitalia, Microphthalmia |
ORPHA:3469 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Nephrocalcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phospha... |
OMIM:211900 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Elevated ... |
OMIM:137920 |
Foveal Hypoplasia 2 |
|
Posterior embryotoxon, Axenfeld anomaly, Astigmatism, Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... |
OMIM:601559 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Cleft ala nasi, Microphthalmia, Cryptorchidism |
OMIM:164180 |
Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Renal sodium wasting, Renal insufficiency, Abnormal urine sodium concentration |
ORPHA:320 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Overhanging nasal tip, Convex nasal ridge, Short stature, Cataract, Narrow nasal bridge, Malar fl... |
ORPHA:85172 |
Triploidy |
|
Meningocele, Ambiguous genitalia, Aplasia/Hypoplasia affecting the eye, Abnormality of the pancre... |
ORPHA:3376 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Short stature, Micrognathia, Cataract, Depressed nasal bridge, Cryptorchidism, Hypogonadotropic h... |
ORPHA:1387 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Micrognathia, Astigmatism, Cataract, Microphthalmia, Anteverted nares |
OMIM:619694 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Short stature, Microcornea, Optic nerve hypoplasia, Ectopic posterior pituitary, Ca... |
OMIM:610125 |
Laurence-Moon Syndrome |
|
Short stature, Hypoplasia of penis, Iris coloboma, Cataract, Cryptorchidism, Displacement of the ... |
ORPHA:2377 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Hypoplasia of penis, Microphthalmia, Short nose |
ORPHA:2547 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Short stature, Increased circulating gonadotropin level, Cataract, Secondary... |
ORPHA:2410 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Microcoria, Iris coloboma, Anophthalmia |
OMIM:616428 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Martsolf Syndrome 2 |
|
Short stature, Developmental cataract, Cataract, Broad nasal tip, Hypogonadotropic hypogonadism |
OMIM:619420 |
Fanconi-Bickel Syndrome |
|
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Ne... |
ORPHA:2088 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal mandible morphology, Jaw swelling, Hyperplasia of the maxilla, Supe... |
ORPHA:83451 |
Microphthalmia, Syndromic 13 |
|
Iris coloboma, Microphthalmia, Short stature, Microcornea |
OMIM:300915 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria |
OMIM:615398 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Convex nasal ridge, Decreased response to growth hormone stimulation test, Micrognathia, Severe i... |
OMIM:241410 |
Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla, Broad nasal tip, Short stature |
OMIM:259610 |
Congenital Rubella Syndrome |
|
Short stature, Aplasia/Hypoplasia of the iris, Jaundice, Intrauterine growth retardation, Catarac... |
ORPHA:290 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Frontofacionasal Dysplasia |
|
Brushfield spots, Encephalocele, Depressed nasal ridge, Short stature, Limbal dermoid, Microcorne... |
ORPHA:1791 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Prominent nose, Delayed eruption of teeth, Micrognathia, Cataract, Microphthalmia, Cryptorchidism... |
OMIM:214150 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Short stature, Cataract, Corneal opacity, Hyperkeratosis, Patchy palm... |
ORPHA:317 |
Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... |
ORPHA:79106 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
Hypophosphatasia, Infantile |
|
Nephrocalcinosis, Phosphoethanolaminuria, Hypercalciuria, Elevated urine pyrophosphate |
OMIM:241500 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Microphthalmia, Cryptorchidism, Hypoplasia of teeth, Intrauterine growth retardati... |
ORPHA:2728 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Nephrolithiasis, Medullary nephrocalcinosis, Hypercalciuria |
ORPHA:157215 |
Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Bilateral microphthalmos, Cataract, Recurrent upper respira... |
ORPHA:2399 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Encephalocele, Depressed nasal ridge, Anophthalmia, Short nose, Microphthalm... |
OMIM:613885 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Short stature |
ORPHA:2776 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Rhizomelia, Short stature, Micrognathia, Short nose, Microphthalmia, Hyper... |
ORPHA:163966 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Wide nasal bridge, Anterior chamber synechiae, Microcornea, Hypoplasia of ... |
OMIM:601499 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Retrognathia, Abnormal nostril morphology, Decreased response to growth hormone stimul... |
OMIM:300845 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Acrodysostosis |
|
Irregular menstruation, Abnormality of female external genitalia, Mandibular prognathia, Depresse... |
ORPHA:950 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Underdeveloped nasal alae, Dental malocclusion, Macrodontia of permanent maxillary central inciso... |
OMIM:257850 |
Aarskog-Scott Syndrome |
|
Megalocornea, Wide nasal bridge, Delayed eruption of teeth, Shawl scrotum, Short stature, Hypopla... |
ORPHA:915 |
Aicardi Syndrome |
|
Precocious puberty, Spina bifida, Prominence of the premaxilla, Hepatoblastoma, Cataract, Microph... |
OMIM:304050 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency |
ORPHA:445038 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis |
ORPHA:557003 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Hypogonadism, Short stature, Short nose, Cataract, Depressed nasal bridge, Anosmia, Short nasal s... |
OMIM:302950 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Acrodysostosis With Multiple Hormone Resistance |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Hypogonadism, Absen... |
ORPHA:280651 |
Cat-Eye Syndrome |
|
Iris coloboma, Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
Trisomy 13 |
|
Anophthalmia, Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Iris coloboma, Cat... |
ORPHA:3378 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Absent nares, Single naris, Anophthalmia, Hypogonadism, Hyposmia, External genital hypoplasia, Hy... |
ORPHA:2250 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Hypoplasia of penis, Disproportionate short-limb short stature, Cataract, Cr... |
ORPHA:2772 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Microcornea, Astigmatism, Cataract, Depressed nasal bridge, Broad nasal ti... |
OMIM:152950 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Short stature, Cataract, Malar flattening |
OMIM:616108 |
Fanconi Anemia, Complementation Group S |
|
Underdeveloped nasal alae, Dental malocclusion, Short stature, Microphthalmia, Anteverted nares, ... |
OMIM:617883 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:120433 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Iris coloboma, Anophthalmia |
OMIM:611638 |
Cystic Fibrosis |
|
Cirrhosis, Abnormality of the liver, Elevated hepatic transaminase, Nasal polyposis, Sinusitis, E... |
ORPHA:586 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
Sanjad-Sakati Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, Short stature, Micrognathia, Hypoplasia... |
ORPHA:2323 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Short nos... |
OMIM:614732 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... |
OMIM:268305 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Microphthalmia, Hypogonadotropic hypogonadism, Abnormality... |
ORPHA:1135 |
Hydrolethalus |
|
Retrognathia, Abnormal fallopian tube morphology, Anophthalmia, Micrognathia, Arrhinencephaly, An... |
ORPHA:2189 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... |
ORPHA:18 |
Ritscher-Schinzel Syndrome 3 |
|
Micrognathia, Microphthalmia, Anteverted nares, Cryptorchidism, Postnatal growth retardation |
OMIM:619135 |
Microphthalmia With Limb Anomalies |
|
Retrognathia, Anophthalmia, Short nose, Unilateral cryptorchidism, Depressed nasal bridge, Microp... |
OMIM:206920 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Cryptorchidism, Sclerocornea |
ORPHA:139471 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Micrognathia, Prominent nasal tip, Short nose, Hypoplasia ... |
ORPHA:439822 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
8Q21.11 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Wide nose, Iris hypopigmentation, Micrognathia, Hypoplasia of penis, C... |
ORPHA:284160 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Prominent nose, Posterior Y-sutural... |
OMIM:302350 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Keratoconjunctivitis sicca, Microcornea, Cataract, Narrow nasal bridge, Microphtha... |
ORPHA:1806 |
Temtamy Syndrome |
|
Micrognathia, Iris coloboma, Convex nasal ridge, Microphthalmia |
ORPHA:1777 |
Kapur-Toriello Syndrome |
|
Hypoplastic labia majora, Intrauterine growth retardation, Iris coloboma, Cataract, Microphthalmi... |
OMIM:244300 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Iris coloboma, Microphthalmia, Corneal opacity |
ORPHA:1473 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Short stature, Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos, Low hanging ... |
OMIM:619318 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... |
OMIM:609945 |
Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Short nose, Hypoplasia... |
ORPHA:1248 |
Marshall-Smith Syndrome |
|
Retrognathia, Choanal stenosis, Short stature, Bilateral cryptorchidism, Prominence of the premax... |
OMIM:602535 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis |
OMIM:614473 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Optic nerve hypoplasia, Short nose, Cataract, Delayed pubert... |
ORPHA:496790 |
Meier-Gorlin Syndrome 4 |
|
Birth length less than 3rd percentile, Short stature, Micrognathia, Intrauterine growth retardati... |
OMIM:613804 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Convex nasal ridge, Short stature |
OMIM:156510 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ocular anterior segment dysgenesis, Occipital encephalocele, Microphthalmia, Developmental cataract |
ORPHA:324416 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hypoplasia of penis, Iris coloboma, Hypospadias, Microphthalmia, Growth delay, Cryp... |
ORPHA:77298 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Microcornea, Vaginal ... |
ORPHA:3301 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma, Microphthalmia |
OMIM:610093 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Cataract, Elevated circulating follicle stimulating... |
OMIM:240950 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Micrognathia, Cataract, Convex nasal ridge, Vaginal hernia |
ORPHA:3173 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Optic nerve hypoplasia,... |
OMIM:603671 |
Congenital Toxoplasmosis |
|
Jaundice, Elevated hepatic transaminase, Microphthalmia, Hepatomegaly, Intrauterine growth retard... |
ORPHA:858 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Micrognathia, Pterygium, Severe short stature, Cataract, Disproportionate shor... |
OMIM:224410 |
Holoprosencephaly 7 |
|
Wide nasal bridge, Hypoplasia of the premaxilla, Absent nasal septal cartilage, Bifid nose, Panhy... |
OMIM:610828 |
Sandestig-Stefanova Syndrome |
|
Retrognathia, Convex nasal ridge, Wide nasal bridge, Developmental cataract, Microphthalmia, Intr... |
OMIM:618804 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Microphthalmia, Short stature |
OMIM:251270 |
Ruijs-Aalfs Syndrome |
|
Hypogonadism, Short stature, Micrognathia, Hepatocellular carcinoma, Posterior subcapsular catara... |
OMIM:616200 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
20P12.3 Microdeletion Syndrome |
|
Short stature, Wide nasal bridge, Hypoplasia of the maxilla, Depressed nasal bridge, Malar flatte... |
ORPHA:261295 |
Silver-Russell Syndrome 3 |
|
Retrognathia, Ambiguous genitalia, Short stature, Antecubital pterygium, Unilateral cryptorchidis... |
OMIM:616489 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Irregular menstruation, Dental malocclusion, Mandibular prognathia, Elevated circulating thyroid-... |
OMIM:101800 |
Primary Hyperoxaluria |
|
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... |
ORPHA:416 |
Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Anophthalmia, Annular pancreas, Abnormal spleen morphology, A... |
ORPHA:2470 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Micrognathia, Cataract, Microphthalmia, Growth dela... |
OMIM:614230 |
X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Bulbous nose, Mandibular prognathia, Short stature |
ORPHA:93945 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Martsolf Syndrome 1 |
|
Short stature, Micrognathia, Developmental cataract, Hypoplasia of the maxilla, Cataract, Depress... |
OMIM:212720 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Decreased fertility, Retrognathia, Keratoconjunctivitis sicca, Short nose, Microcornea, Microphth... |
OMIM:234050 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Micrognathia, Biliary tract abnormality, Microphthalmia, Anteverted nares |
ORPHA:3191 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Abnormality of the sen... |
OMIM:228300 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria |
OMIM:156400 |
Marden-Walker Syndrome |
|
Micrognathia, Intrauterine growth retardation, Hypospadias, Microphthalmia, Anteverted nares, Cry... |
OMIM:248700 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Opacificatio... |
OMIM:164900 |
Lujan-Fryns Syndrome |
|
Hypoplasia of the maxilla, Macroorchidism, Micrognathia, Prominent nasal bridge |
ORPHA:776 |
Microphthalmia, Isolated 6 |
|
Microphthalmia, Microcornea |
OMIM:613517 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
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Microphthalmia |
ORPHA:1574 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... |
OMIM:263520 |
Isolated Arrhinia |
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Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ... |
ORPHA:1134 |
Bent Bone Dysplasia Syndrome 2 |
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Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Short Stature-Micrognathia Syndrome |
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Retrognathia, Rhizomelia, Short stature, Micrognathia, Intrauterine growth retardation, Astigmati... |
OMIM:617164 |
Neurooculocardiogenitourinary Syndrome |
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Bilateral cryptorchidism, Peters anomaly, Prominent nasal bridge, Microphthalmia |
OMIM:618652 |
Temtamy Syndrome |
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Convex nasal ridge, Lens luxation, Micrognathia, Ectopia lentis, Iris coloboma, Microphthalmia, H... |
OMIM:218340 |
Developmental And Epileptic Encephalopathy 1 |
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Microphthalmia, Micropenis, Growth delay |
OMIM:308350 |
Meckel Syndrome |
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Asplenia, Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Micrognathia, Congenital hepatic f... |
ORPHA:564 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cataract, Microph... |
OMIM:618805 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
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Dental malocclusion, Wide nasal bridge, Bifid scrotum, Short stature, Micrognathia, Hypoplasia of... |
ORPHA:85321 |
Atelosteogenesis Type Iii |
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Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... |
ORPHA:56305 |
Craniofacial-Deafness-Hand Syndrome |
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Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Short nose, Hypoplasia of the maxil... |
ORPHA:1529 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:85275 |
Aicardi Syndrome |
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Precocious puberty, Prominence of the premaxilla, Hepatoblastoma, Delayed puberty, Microphthalmia |
ORPHA:50 |
Mosaic Trisomy 9 |
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Abnormal fallopian tube morphology, Asplenia, Abnormal liver lobulation, Spina bifida, Micrognath... |
ORPHA:99776 |
Anterior Segment Dysgenesis 7 |
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Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Enamel hypoplasia, Macroorchidism, Short stature, Unilateral microphthalmos, Iris coloboma, Hypos... |
OMIM:618874 |
Autosomal Dominant Keratitis |
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Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... |
ORPHA:2334 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Mandibular prognathia, Wide nasal bridge, Short stature, Ocular anterior segment dysgenesis, Shor... |
ORPHA:369891 |
Proximal Renal Tubular Acidosis |
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Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Ring Chromosome 10 Syndrome |
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Micrognathia, Microphthalmia, Wide nasal bridge, Intrauterine growth retardation |
ORPHA:1438 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Popl... |
OMIM:119800 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Isosexual precocious puberty, Corneal opacity, Short stature |
ORPHA:2788 |
Microphthalmia, Isolated 5 |
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Cataract, Microphthalmia |
OMIM:611040 |
19Q13.11 Microdeletion Syndrome |
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Underdeveloped nasal alae, Retrognathia, Bifid scrotum, Supernumerary nipple, Microcornea, Broad ... |
ORPHA:217346 |
Baraitser-Winter Syndrome 2 |
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Retrognathia, Microphthalmia, Short stature |
OMIM:614583 |
Bosma Arhinia Microphthalmia Syndrome |
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Primary amenorrhea, Dental malocclusion, Paranasal sinus hypoplasia, Aplasia of the nose, Hypopla... |
OMIM:603457 |
Dental Anomalies And Short Stature |
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Hypoplasia of the maxilla, Amelogenesis imperfecta, Mandibular prognathia, Short stature |
OMIM:601216 |
Adams-Oliver Syndrome 4 |
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Microphthalmia, Umbilical hernia |
OMIM:615297 |
Gorlin Syndrome |
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Mandibular prognathia, Wide nasal bridge, Iris coloboma, Cataract, Carious teeth, Cryptorchidism,... |
ORPHA:377 |
Bartsocas-Papas Syndrome 2 |
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Micrognathia, Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Cor... |
OMIM:619339 |
Moebius Syndrome |
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Decreased testicular size, Micrognathia, Depressed nasal bridge, Microphthalmia, Hypogonadotropic... |
OMIM:157900 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Wide nose, Dental malocclusion, Phakodonesis, Convex nasal ridge, Prominent nose, Retrognathia, A... |
OMIM:601552 |
Frontonasal Dysplasia 2 |
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Aplasia of the nasal bone, Encephalocele, Depressed nasal ridge, Wide nasal bridge, Cleft ala nas... |
OMIM:613451 |
Aarskog-Scott Syndrome |
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Wide nasal bridge, Shawl scrotum, Short stature, Bilateral cryptorchidism, Short nose, Hypoplasia... |
OMIM:305400 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Hy... |
OMIM:616300 |
Microphthalmia, Lenz Type |
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Short stature, Delayed eruption of teeth, Microcornea, Iris coloboma, Hypospadias, Cataract, Micr... |
ORPHA:568 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
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Hyperplasia of the maxilla |
OMIM:618587 |
Femoral-Facial Syndrome |
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Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... |
ORPHA:1988 |
Pseudopseudohypoparathyroidism |
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Enamel hypoplasia, Short stature, Delayed eruption of teeth, Cataract, Depressed nasal bridge, Ps... |
OMIM:612463 |
Cowden Syndrome 6 |
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Micrognathia, Hydrocele testis, Palmoplantar hyperkeratosis, Hypoplasia of the maxilla, Cataract,... |
OMIM:615109 |
Hyperoxaluria, Primary, Type I |
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Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:259900 |
Intellectual Disability-Strabismus Syndrome |
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Hypospadias, Medullary nephrocalcinosis, Micropenis |
ORPHA:363528 |
Hereditary Bullous Dystrophy, Macular Type |
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Short stature, External genital hypoplasia, Decreased testicular size, Cataract, Corneal opacity,... |
ORPHA:1867 |
Orofaciodigital Syndrome Type 2 |
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Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Central retinal... |
ORPHA:2751 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
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Hyperplasia of the maxilla |
OMIM:613671 |
Hartsfield Syndrome |
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Depressed nasal bridge, Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:2117 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Calvarial osteosclerosis, Short stature, Decreased testicular size, Developmental cataract, Bilat... |
ORPHA:93325 |
Cowden Syndrome 5 |
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Micrognathia, Hydrocele testis, Palmoplantar hyperkeratosis, Hypoplasia of the maxilla, Cataract,... |
OMIM:615108 |
Congenital Fibrinogen Deficiency |
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Hemorrhagic ovarian cyst, Decreased testicular size, Developmental cataract, Splenic rupture, Mic... |
ORPHA:335 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... |
OMIM:613091 |
Stromme Syndrome |
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Wide nasal bridge, Micrognathia, Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anoma... |
OMIM:243605 |
Rothmund-Thomson Syndrome, Type 2 |
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Mandibular prognathia, Zonular cataract, Hypogonadism, Delayed eruption of teeth, Short stature, ... |
OMIM:268400 |
Familial Hypocalciuric Hypercalcemia |
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Reduced ratio of renal calcium clearance to creatinine clearance, Parathormone-independent increa... |
ORPHA:405 |
Isolated Optic Nerve Hypoplasia/Aplasia |
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Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... |
ORPHA:137902 |
Stickler Syndrome Type 1 |
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Hypoplasia of the maxilla, Cataract, Short nose |
ORPHA:90653 |
Trichothiodystrophy 1, Photosensitive |
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Retrognathia, Hypogonadism, Short stature, Keratoconjunctivitis sicca, Microcornea, Short nose, C... |
OMIM:601675 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Rieger anomaly, Short stature, Abnormally prominent line of Schwalbe, Hypoplasia of the maxilla, ... |
OMIM:109120 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Wide nasal bridge, Hypoplasia of the maxilla, Depressed nasal bridge, Microphthalmia, Conjunctiva... |
OMIM:167730 |
Vacterl With Hydrocephalus |
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Retrognathia, Abnormal fallopian tube morphology, Anophthalmia, Spina bifida, Micrognathia, Arrhi... |
ORPHA:3412 |
Omodysplasia 1 |
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Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... |
OMIM:258315 |
Sponastrime Dysplasia |
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Wide nose, Obtuse angle of mandible, Microcoria, Precocious puberty, Aplasia of the nasal bone, M... |
ORPHA:93357 |
Nanophthalmos 4 |
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Microphthalmia |
OMIM:615972 |
Jacobsen Syndrome |
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Macular hypoplasia, Annular pancreas, Micrognathia, Labial hypoplasia, Clitoral hypoplasia, Micro... |
OMIM:147791 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Proximal tubulopathy, Stage 3 chronic kidney disease, Medullary nephrocalcinosis, Organic aciduri... |
OMIM:619743 |
Congenital Disorder Of Glycosylation, Type Iq |
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Elevated hepatic transaminase, Cataract, Depressed nasal bridge, Microphthalmia, Hyperkeratosis |
OMIM:612379 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
Meier-Gorlin Syndrome 5 |
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Birth length less than 3rd percentile, Short stature, Micrognathia, Intrauterine growth retardati... |
OMIM:613805 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Hypoplasia of the maxilla, Mandibular prognathia, Hyperopic astigmatism |
ORPHA:397973 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature |
OMIM:608154 |
Harrod Syndrome |
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Dental malocclusion, Cataract, Hypospadias, Cryptorchidism, Long nose, Intrauterine growth retard... |
ORPHA:2115 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Encephalocele, Wide nasal bridge, Bifid scrotum, Delayed eruption of teeth, Micrognathia, Penoscr... |
OMIM:619148 |
Frontorhiny |
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Cranium bifidum occultum, Midline nasal groove, Hypoplastic frontal sinuses, Encephalocele, Basal... |
ORPHA:391474 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Brushfield spots, Hypoplasia of the thymus, Micrognathia, Jaundice, Intrahepatic biliary dysgenes... |
OMIM:214110 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... |
ORPHA:96334 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Congenital megaureter, Renal dysplasia, Renal cyst, Abnormality of the urinary system, Nephrocalc... |
ORPHA:369837 |
Braddock-Carey Syndrome 2 |
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Retrognathia, Bulbous nose, Microphthalmia |
OMIM:619981 |
Rodrigues Blindness |
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Short stature, Microcornea, Narrow nasal bridge, Microphthalmia, Sclerocornea |
OMIM:268320 |
Acromesomelic Dysplasia 3 |
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Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
Keipert Syndrome |
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Hypoplasia of the maxilla, Depressed nasal bridge, Prominent nasal bridge, Short stature |
ORPHA:2662 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... |
ORPHA:99880 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Short stature, Microretrognathia, Hypoplasia of the maxilla, Cryptorchidism, Prominent nasal bridge |
ORPHA:1307 |
8Q22.1 Microdeletion Syndrome |
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Abnormal nostril morphology, Depressed nasal ridge, Wide nasal bridge, Hypogonadism, Hypoplasia o... |
ORPHA:178303 |
Zellweger Syndrome |
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Brushfield spots, Hepatic failure, Posterior embryotoxon, Wide nasal bridge, Short stature, Micro... |
ORPHA:912 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
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Wide nasal bridge, Short stature, Microretrognathia, Short nose, Astigmatism, Cataract, Microphth... |
OMIM:618571 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Mandibular prognathia, Short stature, Decreased testicular size, Micrognathia, Hypoplasia of the ... |
OMIM:300534 |
Adams-Oliver Syndrome 2 |
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Micrognathia, Developmental cataract, Depressed nasal bridge, Microphthalmia, Bulbous nose |
OMIM:614219 |
Myhre Syndrome |
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Precocious puberty, Mandibular prognathia, Hypogonadism, External genital hypoplasia, Craniofacia... |
ORPHA:2588 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Wide nose, Mandibular prognathia, Cleft ala nasi, Decreased testicular size, Narrow nasal base, B... |
ORPHA:3044 |
Carpenter Syndrome 1 |
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Precocious puberty, Short stature, External genital hypoplasia, Micrognathia, Polysplenia, Microc... |
OMIM:201000 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Aminoaciduria, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis |
OMIM:617913 |
Cohen Syndrome |
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Short stature, Micrognathia, Hypoplasia of the maxilla, Iris coloboma, Delayed puberty, Microphth... |
ORPHA:193 |
Parathyroid Carcinoma |
|
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... |
ORPHA:143 |
Spondylo-Ocular Syndrome |
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Short stature, Iris hypopigmentation, Cataract, Microphthalmia, Disproportionate short-trunk shor... |
ORPHA:85194 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:614082 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Abnormal renal tubular resorption, Hypermagnesiuria, Nephrocalcinosis, Hypercalciuria, Hyperprost... |
ORPHA:73224 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Narrow maxilla, Short stature, Long nose, Short nose, Hypospadias, Narrow nose, Cryptorchidism, C... |
OMIM:617602 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Wide nasal bridge, Abnormal nasal morphology, Micrognathia, Depressed nasal bridge, Microphthalmi... |
ORPHA:404440 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalie |