Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Blue Diaper Syndrome |
|
Nephrocalcinosis |
OMIM:211000 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis |
OMIM:260000 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Primary Hyperoxaluria Type 2 |
|
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... |
ORPHA:93599 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... |
OMIM:308990 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis |
OMIM:616963 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Primary Hyperoxaluria Type 3 |
|
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... |
ORPHA:93600 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Retrognathia, Microcornea, Cataract, Microphthalmia, Growth delay, Hypogonadism |
ORPHA:2528 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611498 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury |
ORPHA:33111 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis |
OMIM:614473 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
Dent Disease 2 |
|
Chronic kidney disease, Aminoaciduria, Low-molecular-weight proteinuria, Hypercalciuria, Proximal... |
OMIM:300555 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting |
ORPHA:564178 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Distal renal tubular acidosis, Nephrocalcinosis, Impaired urinary acidification |
OMIM:179800 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Micrognathia, Microcornea, Cataract, Microphthalmia, Intrauterine growth retardation |
OMIM:616171 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Spastic Paraparesis And Deafness |
|
Short stature, Cataract, Hypogonadism |
OMIM:312910 |
Faciothoracogenital Syndrome |
|
Prominent scrotal raphe, Micrognathia, Glandular hypospadias, Shawl scrotum, Microphthalmia |
OMIM:227320 |
Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Intrauterine growth retardation, Microphthalmia |
OMIM:616570 |
Mmep Syndrome |
|
Mandibular prognathia, Cryptorchidism, Microphthalmia |
ORPHA:3434 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:133780 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Cofs Syndrome |
|
Short stature, Micrognathia, Hypogonadism, Cataract, Microphthalmia, Intrauterine growth retardation |
ORPHA:1466 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Retrognathia, Micrognathia, Anophthalmia, Microphthalmia, Cryptorchidism |
OMIM:615524 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Distal renal tubular acidosis, Nephrocalcinosis, Hypercalciuria |
OMIM:602722 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Micropenis, Micrognathia, Cataract, Developmental cataract, Microphthalmia, Growth delay, Intraut... |
OMIM:610756 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Micrognathia, Microcornea, Cataract, Microphthalmia... |
ORPHA:48431 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:104200 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Polyuria, Nephrocalcinosis, Hypercalciuria |
OMIM:143880 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
External genital hypoplasia, Short stature, Retrognathia, Cataract, Postnatal growth retardation,... |
OMIM:612947 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Ambiguous genitalia, female, Micrognathia, Primary amenorrhea, Fuse... |
ORPHA:2975 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Hepatomegaly, Microcornea, Microphthalmia |
ORPHA:2432 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Retinal deta... |
OMIM:607143 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Short stature, Micrognathia, Microcornea, Developmental cataract, Mi... |
OMIM:600118 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Short stature, Prominence of the premaxilla, Hepatic failure, Abnormality of the ... |
OMIM:614886 |
Orofaciodigital Syndrome Ix |
|
Retinal coloboma, Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly |
OMIM:258865 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Wagr Syndrome |
|
Short stature, Micrognathia, Ambiguous genitalia, Cataract, Displacement of the urethral meatus, ... |
ORPHA:893 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis |
OMIM:204690 |
Gombo Syndrome |
|
Delayed puberty, Microphthalmia |
OMIM:233270 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cryptorchidism, Microcornea, Microphthalmia |
OMIM:601349 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-... |
OMIM:300009 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis |
OMIM:615633 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... |
ORPHA:93598 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... |
ORPHA:93111 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Decreased glomerular filtration rate |
OMIM:601198 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... |
OMIM:146255 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Recurrent urinary tract infection... |
OMIM:248190 |
Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Nephrocalcinosis, Renal insufficiency, Hypercalciuria |
ORPHA:99879 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Distal renal tubular acidosis, Isothenuria, Nephrocalcinosis |
OMIM:611590 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypog... |
ORPHA:141333 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine |
ORPHA:94086 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia |
OMIM:604219 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size, Short stature |
ORPHA:93950 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
Warburg Micro Syndrome 3 |
|
Shallow anterior chamber, Micropenis, Micrognathia, Microcornea, Hypoplastic labia minora, Catara... |
OMIM:614222 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis |
OMIM:146200 |
Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Cataract, Microphthalmia |
ORPHA:291 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Renal tubular acidosis, Polyuria,... |
OMIM:248250 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Intrauterine growth retardation, Cataract |
ORPHA:2489 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Cataract, Microphthalmia, Cryptorchidism, Hypogonadism |
ORPHA:363741 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Ambiguous genitalia, Rhizomelia, Cataract, Microphthalmia |
ORPHA:93267 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormality of the maxilla, Abnormal mandible morphology |
ORPHA:401942 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Primary amenorrhea, Short mandibular condyles, Ambiguous genitalia, Clitoral hypertrophy, Hypopla... |
OMIM:264270 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Otodental Syndrome |
|
Taurodontia, Abnormal molar morphology, Delayed eruption of teeth, Pulp calcification, Carious te... |
ORPHA:2791 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Low-molecular-weight proteinuri... |
OMIM:300554 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... |
OMIM:180080 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Proteinuria, Nephrocalcinosis |
OMIM:613404 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
Neurofaciodigitorenal Syndrome |
|
Hypoplasia of the premaxilla, Short stature, Corneal dystrophy, Mandibular prognathia, Cryptorchi... |
ORPHA:2673 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Cataract, Microphthalmia |
OMIM:278780 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Seckel Syndrome 2 |
|
Short stature, Hypospadias, Micrognathia, Microphthalmia, Growth delay |
OMIM:606744 |
Holoprosencephaly 9 |
|
Dental malocclusion, Hypoplasia of the premaxilla, Decreased response to growth hormone stimulati... |
OMIM:610829 |
Malan Syndrome |
|
Retrognathia, Advanced eruption of teeth, Astigmatism, Hyperplasia of the premaxilla, Mandibular ... |
OMIM:614753 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... |
OMIM:193230 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis |
OMIM:616026 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Microphthalmia, Cataract, Hypogonadism |
OMIM:601794 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Pierpont Syndrome |
|
Malar flattening, Short stature, Micropenis, Microcornea, Microphthalmia, Cryptorchidism |
OMIM:602342 |
2Q24 Microdeletion Syndrome |
|
Growth delay, Abnormality iris morphology, Cataract, Microphthalmia |
ORPHA:1617 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Cryptorchidism, Hypoplasia of the maxilla, Decreased testicular size, Short stature |
ORPHA:85279 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis |
OMIM:611087 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Medullary nephrocalcinosis, Hyperphosphaturia |
OMIM:613312 |
Cataract 11, Multiple Types |
|
Cataract, Microphthalmia |
OMIM:610623 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Neonatal death, Iris coloboma, Decreased testicular size, Microphthalmia,... |
ORPHA:85284 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph... |
OMIM:211900 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedullary differentiation, Am... |
OMIM:208085 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Short stature, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia |
OMIM:610023 |
Microphthalmia With Limb Anomalies |
|
Optic atrophy, Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th fin... |
ORPHA:1106 |
Trichothiodystrophy 3, Photosensitive |
|
Short stature, Carious teeth, Cataract, Developmental cataract, Natal tooth, Microphthalmia, Bila... |
OMIM:616395 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis |
ORPHA:500533 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Micropenis, Microcornea, Cataract, Developmental cataract, Hypoplastic labia majo... |
OMIM:614225 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Hypoplasia of penis, Encephalocele, Hypospadias, Micrognathia, Ambi... |
ORPHA:2166 |
Pierpont Syndrome |
|
Cryptorchidism, Microcornea, Malar flattening, Microphthalmia |
ORPHA:487825 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi... |
ORPHA:1031 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Polyuria, Hypercalciuria |
OMIM:300971 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract, Microphthalmia |
OMIM:610092 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Short stature, Hypospadias, Micrognathia, Microcornea, Umbilical hernia, Microphthalmia, Cryptorc... |
ORPHA:2505 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas defer... |
OMIM:137920 |
Foveal Hypoplasia 2 |
|
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Prominence of the premaxilla |
ORPHA:2412 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Micrognathia, Astigmatism, Peters anomaly, Iris coloboma, Microphthalmia, Postnatal ... |
ORPHA:494344 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Mandibular osteomyelitis, Abnormal cementum morphology, Supernumerary tooth,... |
ORPHA:83451 |
Microphthalmia, Syndromic 5 |
|
Short stature, Micropenis, Optic nerve hypoplasia, Anophthalmia, Microcornea, Ectopic posterior p... |
OMIM:610125 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla |
OMIM:137550 |
3Mc Syndrome 2 |
|
Hypospadias, Cryptorchidism, Postnatal growth retardation, Prominence of the premaxilla |
OMIM:265050 |
Triploidy |
|
Aplasia/Hypoplasia affecting the eye, Hepatomegaly, Hypoplasia of penis, Hypospadias, Micrognathi... |
ORPHA:3376 |
Fanconi-Bickel Syndrome |
|
Renal tubular acidosis, Nephropathy, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Hyper... |
ORPHA:2088 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... |
OMIM:601560 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria |
OMIM:615398 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Short stature, Congenital hepatic fibrosis, Iris coloboma, Cataract, Displac... |
ORPHA:2377 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Microphthalmia, Postnatal growth retardation, Hypoplasia of teeth, Intrauterine g... |
ORPHA:2728 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Micrognathia, Clitoral hypoplasia, Microcornea, Hypoplastic l... |
ORPHA:2510 |
Skraban-Deardorff Syndrome |
|
Micrognathia, Hyperplasia of the maxilla |
OMIM:617616 |
Premature Ovarian Failure 12 |
|
Primary amenorrhea, Microphthalmia |
OMIM:616947 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary growth hormone defic... |
ORPHA:2410 |
Congenital Rubella Syndrome |
|
Corneal opacity, Hepatomegaly, Jaundice, Short stature, Splenomegaly, Cataract, Microphthalmia, A... |
ORPHA:290 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Hypercalciuria, Nephrocalcinosis, Phosphoethanolaminuria |
OMIM:241500 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia |
OMIM:616428 |
Warburg Micro Syndrome 4 |
|
Short stature, Micropenis, Severe postnatal growth retardation, Microcornea, Developmental catara... |
OMIM:615663 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short stature, Hypospadias, Micrognathia, Microcornea, Carious teeth, Microphthalmia, Cryptorchid... |
OMIM:616734 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency |
ORPHA:320 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Medullary nephrocalcinosis, Hyperphosphaturia, Hypercalciuria |
ORPHA:157215 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... |
OMIM:251230 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Short stature, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cataract, Abn... |
ORPHA:317 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
ORPHA:280679 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Malar flattening, Short stature, Hypogonadotropic hypogonadism, Micrognathia, Cataract, Cryptorch... |
ORPHA:1387 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism |
ORPHA:1381 |
Baraitser-Winter Syndrome 1 |
|
Short stature, Retrognathia, Micropenis, Iris coloboma, Microphthalmia, Postnatal growth retardat... |
OMIM:243310 |
Aicardi Syndrome |
|
Precocious puberty, Hepatoblastoma, Prominence of the premaxilla, Cataract, Microphthalmia, Postn... |
OMIM:304050 |
Axenfeld-Rieger Syndrome |
|
Abnormal anterior chamber morphology, Hypospadias, Posterior embryotoxon, Hypoplasia of the maxil... |
ORPHA:782 |
Oculocerebrodental Syndrome |
|
Nephrocalcinosis |
ORPHA:557003 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency |
ORPHA:445038 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Micrognathia, Anophthalmia, Microphthalmia |
OMIM:221950 |
Lowry-Maclean Syndrome |
|
Intrauterine growth retardation, Corneal opacity, Abnormality of the abdominal organs, Retrognath... |
ORPHA:2409 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Hypoplasia of penis, Microphthalmia |
ORPHA:2547 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Trisomy 13 |
|
Malar flattening, Anophthalmia, Abnormal morphology of female internal genitalia, Iris coloboma, ... |
ORPHA:3378 |
Slc35A2-Cdg |
|
Talipes equinovarus, Short tibia, Aplasia/hypoplasia involving bones of the extremities, Camptoda... |
ORPHA:356961 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Cataract, Bilateral microphthalmos |
OMIM:608763 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Cat-Eye Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Iris coloboma, Short stature |
ORPHA:195 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Disproportionate short-limb short stature, Hypoplasia of penis, Ambiguous genitalia, Cataract, Cr... |
ORPHA:2772 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:164180 |
Nance-Horan Syndrome |
|
Supernumerary tooth, Microcornea, Cataract, Microphthalmia, Mandibular prognathia |
ORPHA:627 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Micrognathia, Astigmatism, Cataract, Microphthalmia |
OMIM:619694 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcornea, Short stature |
OMIM:300915 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Elevated hepatic transaminase, Cataract, Cryptorchidism, Intrauterine growth retard... |
OMIM:618958 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-weight protei... |
ORPHA:18 |
Xk Aprosencephaly Syndrome |
|
Abnormal external genitalia, Microphthalmia |
ORPHA:3469 |
Frontonasal Dysplasia 1 |
|
Hypoplastic frontal sinuses, Cranium bifidum occultum, Hypoplasia of the maxilla, Cataract, Micro... |
OMIM:136760 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Micrognathia, Delayed eruption of teeth, Carious teeth, Cataract, Microphthalmia, Cryptorchidism |
OMIM:214150 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Hypopl... |
OMIM:601499 |
Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla, Short stature |
OMIM:259610 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Cryptorchidism, Sclerocornea |
ORPHA:139471 |
Aarskog-Scott Syndrome |
|
Short stature, Megalocornea, Delayed eruption of teeth, Hypoplasia of the maxilla, Shawl scrotum,... |
ORPHA:915 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Microphthalmia |
ORPHA:1473 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Hydrolethalus |
|
Retrognathia, Micrognathia, Anencephaly, Arrhinencephaly, Anophthalmia, Abnormal fallopian tube m... |
ORPHA:2189 |
Joubert Syndrome 37 |
|
Hepatomegaly, Short stature, Micropenis, Decreased testicular size, Microphthalmia, Cryptorchidism |
OMIM:619185 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Megalocornea, Opacification of the co... |
OMIM:164900 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Birth length less than 3rd percentile, Breast hypoplasia, Hypoplasia... |
OMIM:613804 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia |
OMIM:609054 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short stature |
ORPHA:2776 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalmia |
ORPHA:324416 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Anophthalmia, Iris coloboma, Microphthalmia, Growth delay, Cryp... |
ORPHA:77298 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Microphthalmia |
OMIM:120433 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short stature, Micrognathia, Rhizomelia, Hyperkeratosis, Microphthalmia, Intrauterine growth reta... |
ORPHA:163966 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
OMIM:300845 |
Adams-Oliver Syndrome 2 |
|
Micrognathia, Developmental cataract, Microphthalmia |
OMIM:614219 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Hypospadias, Decreased testicular size, Postnatal growth retard... |
OMIM:610198 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract, Short stature |
OMIM:251270 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Iris coloboma, Cataract, Microphthalmia |
OMIM:212550 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Retinal dystrophy, Postaxial hand po... |
OMIM:263520 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Labial hypoplasia, Short stature, Opacification of the corneal stroma, Hypoplastic nipples, Hypop... |
OMIM:211370 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hepatomegaly, Elevated hepatic transaminase, Microphthalmia, Jau... |
ORPHA:858 |
Atelosteogenesis Type Iii |
|
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... |
ORPHA:56305 |
Primary Hyperoxaluria |
|
Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalciuria, Aciduria, Hyp... |
ORPHA:416 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Corneal opacity, Severe postnatal growth retardation, Cataract, Hypoplasia of the maxilla, Bilate... |
ORPHA:2399 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating... |
OMIM:240950 |
Ritscher-Schinzel Syndrome 3 |
|
Micrognathia, Cryptorchidism, Postnatal growth retardation, Microphthalmia |
OMIM:619135 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Persistent pupillary mem... |
OMIM:257850 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, A... |
ORPHA:2470 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Severe intrauterine growth retardation, Aplasia/Hypoplasia affecting the eye,... |
ORPHA:2323 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Cataract... |
OMIM:618805 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Growth delay, Cervical spina bifida, Male pseudohermaphroditism, Bilateral microphthalmos, Postna... |
OMIM:600122 |
Mend Syndrome |
|
Cryptorchidism, Microretrognathia, Cataract, Short stature |
OMIM:300960 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Nephrocalcinosis, Hypercalciuria |
OMIM:156400 |
Aicardi Syndrome |
|
Precocious puberty, Hepatoblastoma, Prominence of the premaxilla, Delayed puberty, Microphthalmia |
ORPHA:50 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Hypoplasia of the fovea, Microcornea, Peters anomaly, Rieger anomaly, Hypo... |
OMIM:604229 |
Temtamy Syndrome |
|
Micrognathia, Iris coloboma, Microphthalmia |
ORPHA:1777 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Cryptorchidism, Hypogonadism, Encephalocele, Intrauterine growth retardation, Sma... |
ORPHA:228390 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Short stature |
OMIM:156510 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract, Microphthalmia, Mandibul... |
OMIM:152950 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Cataract, Hepatomegaly |
OMIM:613730 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Corneal opacity, Micrognathia, Optic nerve hypoplasia, Cataract, Delayed puberty, Mandibular prog... |
ORPHA:496790 |
Tetraamelia-Multiple Malformations Syndrome |
|
Micrognathia, Microcornea, Iris coloboma, Cataract, Septo-optic dysplasia, Microphthalmia, Vagina... |
ORPHA:3301 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tubulopathy, Low-mol... |
ORPHA:47159 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Flared metaphysis, Retinal detachment,... |
OMIM:156550 |
Marden-Walker Syndrome |
|
Micropenis, Hypospadias, Micrognathia, Microphthalmia, Postnatal growth retardation, Cryptorchidi... |
OMIM:248700 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity, Microphthalmia, Isosexual precocious puberty, Short stature |
ORPHA:2788 |
Fanconi Anemia, Complementation Group S |
|
Dental malocclusion, Microphthalmia, Ovarian neoplasm, Short stature |
OMIM:617883 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Microphthalmia |
ORPHA:209956 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Baraitser-Winter Syndrome 2 |
|
Retrognathia, Microphthalmia, Short stature |
OMIM:614583 |
Pde4D Haploinsufficiency Syndrome |
|
Postnatal growth retardation, Malar flattening, Hypospadias, Micrognathia, Hypoplasia of the maxi... |
ORPHA:439822 |
Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
Meckel Syndrome |
|
Urethral atresia, Encephalocele, Pancreatic fibrosis, Male pseudohermaphroditism, Micrognathia, A... |
ORPHA:564 |
Acrodysostosis |
|
Short stature, Irregular menstruation, Delayed eruption of teeth, Abnormality of female external ... |
ORPHA:950 |
Marshall-Smith Syndrome |
|
Microretrognathia, Short mandibular rami, Retrognathia, Prominence of the premaxilla, Short statu... |
OMIM:602535 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Mirror image foot polyda... |
OMIM:119800 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Dysmenorrhea, Bifid scrotum, Hypospadias, Micrognathia, Small placenta, Postnatal growth retardat... |
ORPHA:397590 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia, Micropenis |
OMIM:308350 |
Hyperoxaluria, Primary, Type I |
|
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis |
OMIM:259900 |
Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Mandibular prognathia, Hypoplasia of the maxilla, Short stature |
OMIM:601216 |
Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Biliary tract abnormality, Microphthalmia, Short stature |
ORPHA:3191 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... |
ORPHA:1988 |
Mosaic Trisomy 9 |
|
Corneal opacity, Hypoplasia of penis, Abnormal liver lobulation, Micrognathia, Abnormal fallopian... |
ORPHA:99776 |
Intellectual Disability-Strabismus Syndrome |
|
Medullary nephrocalcinosis, Hypospadias, Micropenis |
ORPHA:363528 |
Adams-Oliver Syndrome 4 |
|
Umbilical hernia, Microphthalmia |
OMIM:615297 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Short stature |
OMIM:619318 |
Martsolf Syndrome 1 |
|
Micropenis, Short stature, Hypogonadotropic hypogonadism, Micrognathia, Hypoplasia of the maxilla... |
OMIM:212720 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Microcornea, Hyperkeratosis, Cataract, Corneal dystrophy, Microphthalmia, Keratoco... |
ORPHA:1806 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Retrognathia, Microcornea, Microphthalmia, Hypoplasia of teeth, Keratoconjunctiviti... |
OMIM:234050 |
Lujan-Fryns Syndrome |
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Micrognathia, Hypoplasia of the maxilla, Macroorchidism |
ORPHA:776 |
Microphthalmia, Isolated 1 |
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Anophthalmia, Microphthalmia |
OMIM:251600 |
8Q21.11 Microdeletion Syndrome |
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Corneal opacity, Hypoplasia of penis, Micrognathia, Iris hypopigmentation, Cataract, Microphthalm... |
ORPHA:284160 |
Bartsocas-Papas Syndrome 2 |
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Corneal opacity, Microphthalmia, Micrognathia, Popliteal pterygium, Axillary pterygium, Antecubit... |
OMIM:619339 |
Microphthalmia, Lenz Type |
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Short stature, Hypospadias, Delayed eruption of teeth, Microcornea, Iris coloboma, Cataract, Micr... |
ORPHA:568 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Hypoplasia of penis, External genital hypoplasia, Failure of eruption of permanen... |
ORPHA:2250 |
Chromosome 8Q21.11 Deletion Syndrome |
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Micropenis, Micrognathia, Cataract, Microphthalmia, Growth delay, Cryptorchidism, Sclerocornea |
OMIM:614230 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
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Hyperplasia of the maxilla |
OMIM:618587 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Dental malocclusion, Disproportionate short-limb short stature, Decreased growth hormone response... |
OMIM:101800 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Stage 3 chronic kidney disease, Renal Fanconi syndrome, Organic aciduria, Proximal tubulopathy, M... |
OMIM:619743 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
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Dental malocclusion, Hypoplasia of penis, Malar flattening, Bifid scrotum, Short stature, Microgn... |
ORPHA:85321 |
Cowden Syndrome 6 |
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Hydrocele testis, Ovarian cyst, Micrognathia, Palmoplantar hyperkeratosis, Varicocele, Hypoplasia... |
OMIM:615109 |
Hereditary Bullous Dystrophy, Macular Type |
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Corneal opacity, External genital hypoplasia, Short stature, Cataract, Decreased testicular size,... |
ORPHA:1867 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Malar flattening, Short stature, Abnormally prominent line of Schwalbe, Rieger anomaly, Hypoplasi... |
OMIM:109120 |
Kapur-Toriello Syndrome |
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Micropenis, Iris coloboma, Cataract, Microphthalmia, Cryptorchidism, Intrauterine growth retardat... |
OMIM:244300 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Malar flattening, Short stature, Hypospadias, Unilateral microphthalmos, Enamel hypoplasia, Iris ... |
OMIM:618874 |
Anterior Segment Dysgenesis 7 |
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Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea |
OMIM:269400 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Hepatomegaly, Jaundice, Splenomegaly, Micrognathia, Hepatosplenomegaly, Opacification of the corn... |
OMIM:614866 |
Sandestig-Stefanova Syndrome |
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Retrognathia, Intrauterine growth retardation, Developmental cataract, Microphthalmia |
OMIM:618804 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
X-Linked Intellectual Disability, Porteous Type |
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Mandibular prognathia, Hypoplasia of the maxilla, Short stature |
ORPHA:93945 |
Omodysplasia 1 |
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Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... |
OMIM:258315 |
Cowden Syndrome 5 |
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Hydrocele testis, Ovarian cyst, Micrognathia, Palmoplantar hyperkeratosis, Hypoplasia of the maxi... |
OMIM:615108 |
Congenital Fibrinogen Deficiency |
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Micropenis, Hemorrhagic ovarian cyst, Developmental cataract, Decreased testicular size, Micropht... |
ORPHA:335 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Ring Chromosome 10 Syndrome |
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Micrognathia, Intrauterine growth retardation, Microphthalmia |
ORPHA:1438 |
Vacterl With Hydrocephalus |
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Retrognathia, Micrognathia, Anophthalmia, Arrhinencephaly, Microcornea, Abnormal fallopian tube m... |
ORPHA:3412 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Growth delay, Persistence of primary teeth, Postnatal growth retardation, Short stature, Congenit... |
ORPHA:93325 |
Isolated Optic Nerve Hypoplasia/Aplasia |
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Corneal opacity, Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Growth... |
ORPHA:137902 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Mandibular prognathia, Hyperopic astigmatism, Hypoplasia of the maxilla |
ORPHA:397973 |
Meier-Gorlin Syndrome 5 |
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Micropenis, Short stature, Micrognathia, Birth length less than 3rd percentile, Hypoplasia of the... |
OMIM:613805 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Intrauterine growth retardation, Hypoplasia of the maxilla, Short stature |
OMIM:608154 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... |
OMIM:227270 |
20P12.3 Microdeletion Syndrome |
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Hypoplasia of the maxilla, Malar flattening, Short stature |
ORPHA:261295 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... |
OMIM:228300 |
Trichothiodystrophy 1, Photosensitive |
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Short stature, Retrognathia, Microcornea, Hyperkeratosis, Cataract, Microphthalmia, Keratoconjunc... |
OMIM:601675 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Renal dysplasia, Renal ... |
ORPHA:369837 |
Acromesomelic Dysplasia 3 |
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Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Bartter Syndrome Type 4 |
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Hyperprostaglandinuria, Chronic kidney disease, Impaired renal concentrating ability, Increased u... |
ORPHA:89938 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
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Hypoplasia of the maxilla |
OMIM:608432 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Cryptorchidism, Short stature, Hypospadias, Carious teeth, Narrow maxilla, Intrauterine growth re... |
OMIM:617602 |
19Q13.11 Microdeletion Syndrome |
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Supernumerary nipple, Bifid scrotum, Retrognathia, Hypospadias, Microcornea, Cataract, Growth del... |
ORPHA:217346 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Hepatomegaly, Jaundice, Micrognathia, Hypoplasia of the thymus, Opacification of the corneal stro... |
OMIM:214110 |
Moebius Syndrome |
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Micropenis, Hypogonadotropic hypogonadism, Micrognathia, Decreased testicular size, Microphthalmia |
OMIM:157900 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
Myhre Syndrome |
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Precocious puberty, Severe short stature, External genital hypoplasia, Abnormal penis morphology,... |
ORPHA:2588 |
Spondylo-Ocular Syndrome |
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Short stature, Aplasia/Hypoplasia of the lens, Disproportionate short-trunk short stature, Iris h... |
ORPHA:85194 |
Microphthalmia, Isolated 5 |
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Cataract, Microphthalmia |
OMIM:611040 |
Nance-Horan Syndrome |
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Mulberry molar, Screwdriver-shaped incisors, Microcornea, Posterior Y-sutural cataract, Supernume... |
OMIM:302350 |
Neurooculocardiogenitourinary Syndrome |
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Peters anomaly, Bilateral cryptorchidism, Microphthalmia |
OMIM:618652 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Hyperprostaglandinuria, Abnormal renal tubular resorption, Hypercalciuria, Hypermagnesiuria, Neph... |
ORPHA:73224 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Nephrolithiasis, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficiency, Renal hamartoma... |
ORPHA:99880 |
Acheiropodia |
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Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Holoprosencephaly 7 |
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Hypoplasia of the premaxilla, Panhypopituitarism, Bilateral microphthalmos, Iris coloboma |
OMIM:610828 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Fanconi Anemia, Complementation Group G |
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Growth delay, Microphthalmia |
OMIM:614082 |
Rothmund-Thomson Syndrome, Type 2 |
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Annular pancreas, Supernumerary tooth, Microphthalmia, Zonular cataract, Short stature, Micrognat... |
OMIM:268400 |
Parathyroid Carcinoma |
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Nephrolithiasis, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficiency, Renal hamartoma... |
ORPHA:143 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Nephrocalcinosis |
OMIM:240300 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Micropenis, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Optic... |
OMIM:206900 |
Stickler Syndrome Type 1 |
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Hypoplasia of the maxilla, Cataract |
ORPHA:90653 |
Lissencephaly 8 |
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Occipital encephalocele, Cataract, Microphthalmia |
OMIM:617255 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Precocious puberty, Hypospadias, Ectopia pupillae, Anophthalmia, Microcornea, Rhizomelia, Catarac... |
OMIM:615877 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Micrognathia, Corneal opacity, Hypoplasia of the maxilla |
OMIM:166300 |
Spondylospinal Thoracic Dysostosis |
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Micrognathia, Multiple pterygia, Hypoplasia of the maxilla |
OMIM:601809 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Megalocornea, Anophthalmia, Hypoplasia of the maxilla, Umbilical hernia, Corneal dystrophy, Mandi... |
ORPHA:1101 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Cholelithiasis, Micropenis, Short stature, Micrognathia, Hypoplasia of the maxilla, Decreased tes... |
OMIM:300534 |
Megalocornea |
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Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Cryptorchidism, Hypoplasia of the maxilla, Microretrognathia, Short stature |
ORPHA:1307 |
Microphthalmia With Limb Anomalies |
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Growth delay, Retrognathia, Anophthalmia, Microphthalmia, Postnatal growth retardation |
OMIM:206920 |
Carpenter Syndrome 1 |
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Precocious puberty, Persistence of primary teeth, External genital hypoplasia, Malar flattening, ... |
OMIM:201000 |
Anterior Segment Dysgenesis 2 |
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Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Microphthalmia, Poste... |
OMIM:610256 |
Frontorhiny |
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Basal encephalocele, Encephalocele, Hypoplastic frontal sinuses, Iris coloboma, Cranium bifidum o... |
ORPHA:391474 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Cowden Syndrome 1 |
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Hydrocele testis, Ovarian cyst, Micrognathia, Palmoplantar hyperkeratosis, Varicocele, Hypoplasia... |
OMIM:158350 |
Harrod Syndrome |
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Dental malocclusion, Hypospadias, Cataract, Cryptorchidism, Intrauterine growth retardation |
ORPHA:2115 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Retrognathia, Micrognathia, Umbilical hernia, Microphthalmia, Mandibular prognathia, Lens coloboma |
OMIM:618914 |
Familial Tumoral Calcinosis |
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Nephrocalcinosis |
ORPHA:53715 |
Bosma Arhinia Microphthalmia Syndrome |
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Dental malocclusion, Paranasal sinus hypoplasia, Micropenis, Hypogonadotropic hypogonadism, Hypos... |
OMIM:603457 |
Aarskog-Scott Syndrome |
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Testicular atrophy, Cryptorchidism, Short stature, Elevated circulating luteinizing hormone level... |
OMIM:305400 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Short stature, Bilateral microphthalmos, Umbilical hernia, Ocular anterior segment dysgenesis, Ma... |
ORPHA:369891 |
Gracile Bone Dysplasia |
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Short stature, Micropenis, Hypoplastic spleen, Microphthalmia, Aniridia, Asplenia |
OMIM:602361 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
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Shallow anterior chamber, Microphthalmia |
OMIM:267760 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Mild postnat... |
ORPHA:456312 |
Oculoauricular Syndrome |
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Microphakia, Microphthalmia, Phthisis bulbi, Short mandibular rami, Posterior embryotoxon, Microc... |
OMIM:612109 |
Frontofacionasal Dysplasia |
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Short stature, Limbal dermoid, Microcornea, Iris coloboma, Cataract, Brushfield spots, Microphtha... |
ORPHA:1791 |
Cousin Syndrome |
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Ambiguous genitalia, female, Ambiguous genitalia, male, Micrognathia, Microcornea, Rhizomelia, Mi... |
OMIM:260660 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Nephrocalcinosis |
OMIM:618005 |
Cleft Velum |
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Hypoplasia of the maxilla |
ORPHA:99772 |
Hepatoportal Sclerosis |
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Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Cohen Syndrome |
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Short stature, Micrognathia, Hypoplasia of the zygomatic bone, Iris coloboma, Hypoplasia of the m... |
ORPHA:193 |
Congenital Disorder Of Glycosylation, Type Ij |
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Micrognathia, Elevated hepatic transaminase, Cataract, Cryptorchidism, Jaundice |
OMIM:608093 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
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Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:1135 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperprostag |