Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Facial cleft, Neural tube defect |
OMIM:600776 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu... |
OMIM:609637 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... |
OMIM:611638 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Optic nerve hypoplasia, Bilateral microphthalmos, Facial cleft, Brachyturricepha... |
OMIM:607597 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Calvarial skull defect, Spina bifida |
ORPHA:945 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Short columella, Holopr... |
OMIM:142945 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Facial cleft, Brachycephaly |
OMIM:613456 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Tessier number 4 facial cleft |
OMIM:600251 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Facial cleft, Spina bifida |
ORPHA:1104 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Anophthalmia, Anteverted nares, Optic nerve hypoplasia, Proboscis... |
OMIM:605627 |
Hartsfield Syndrome |
|
Encephalocele, Depressed nasal bridge, Craniosynostosis, Split hand, Lobar holoprosencephaly, Apl... |
ORPHA:2117 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a... |
ORPHA:93323 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
Frontofacionasal Dysplasia |
|
Encephalocele, Short stature, Facial cleft, Brachycephaly, Microphthalmia, Midface retrusion |
ORPHA:1791 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Macroorchidism, Hypospadias, Impulsivity, Cryptorchidism, Increa... |
ORPHA:8 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Anterior encephalocele, Coloboma, Foot oligodactyly, Holoprosencephaly, Amelia |
OMIM:601357 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... |
OMIM:300624 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Facial cleft, Brachycephaly |
ORPHA:66625 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Anosmia, Colob... |
OMIM:147250 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Depressed nasal bridge, Short femur,... |
ORPHA:1860 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma |
OMIM:251505 |
Unilateral Ocular Duplication |
|
Encephalocele, Frontal bossing, Polyhydramnios, Midline facial cleft, Dolichocephaly |
ORPHA:3374 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Macroorchidism |
ORPHA:3077 |
Holoprosencephaly 14 |
|
Frontal bossing, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Hydr... |
OMIM:619895 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
Vissers-Bodmer Syndrome |
|
Intrauterine growth retardation, Holoprosencephaly, Tapered finger |
OMIM:619033 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad... |
OMIM:120400 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Cyclopia, Remnants of the hyaloid vascular system, Proboscis, Alobar h... |
OMIM:157170 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Lambdoidal craniosynostosis, Semilobar holoprosencephaly |
OMIM:601370 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anencephaly, Holoprosencephaly, Abnormal metacarp... |
ORPHA:1590 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly, Coloboma |
ORPHA:141333 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Bifid nasal tip, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Anteri... |
OMIM:136760 |
Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Hypoplastic nasal septum, Hypoplasia of the brainstem, Ho... |
OMIM:610828 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Micromelia, Hydrocephal... |
ORPHA:93274 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Short stature, Facial cleft |
ORPHA:1794 |
Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly, Coloboma |
OMIM:613094 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognat... |
ORPHA:1908 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Achondroplasia |
|
Frontal bossing, Brachydactyly, Radial bowing, Depressed nasal bridge, Rhizomelia, Short femur, B... |
OMIM:100800 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Molar tooth... |
OMIM:615665 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly |
OMIM:610023 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Proboscis, Choanal atres... |
ORPHA:141099 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephaloc... |
OMIM:108720 |
Holoprosencephaly 1 |
|
Proboscis, Alobar holoprosencephaly, Aplasia of the nose, Microphthalmia, Cyclopia, Ethmocephaly,... |
OMIM:236100 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Distal Monosomy 7Q36 |
|
Micrognathia, Bulbous nose, Symphalangism affecting the phalanges of the hand, Abnormal calvaria ... |
ORPHA:1636 |
Fragile X Syndrome |
|
Macroorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder |
ORPHA:908 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Hypoplastic vertebral ... |
ORPHA:2163 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg... |
ORPHA:440354 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus, Coloboma |
ORPHA:324416 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Alobar holoprosencephaly, Brachycephaly, Dolichocephaly |
OMIM:615433 |
Mosaic Trisomy 9 |
|
Polyhydramnios, Spina bifida, Facial cleft, Hydrops fetalis, Prominent occiput, Biparietal narrow... |
ORPHA:99776 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Tessier number 13 facial cleft, Craniosynostosis, Parietal foramina, Brachycephaly... |
OMIM:613451 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping, Hydrocephalus, Depressed nasa... |
OMIM:300863 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
Cleidocranial Dysplasia, Recessive Form |
|
Severe short stature, Brachycephaly |
OMIM:216330 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Micropenis |
ORPHA:75858 |
Monosomy 18P |
|
Micrognathia, Brachycephaly, Wide nasal bridge, Holoprosencephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... |
ORPHA:85327 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Triploidy |
|
Finger syndactyly, Micrognathia, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine grow... |
ORPHA:3376 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Micrognathia, Holoprosencephaly, Hydranencephaly, Intrauterine growth re... |
ORPHA:2570 |
Temtamy Syndrome |
|
Pes planus, Brachydactyly, Convex nasal ridge, Micrognathia, Short toe, Chorioretinal coloboma, D... |
ORPHA:1777 |
Holoprosencephaly 4 |
|
Semilobar holoprosencephaly, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nas... |
OMIM:142946 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Sandal gap, Broad nasal tip, 3-4 finge... |
OMIM:612530 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Irregular menstruat... |
ORPHA:180229 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Micrognathia, Coxa valga, Wide anterio... |
ORPHA:163649 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Attention deficit hyperactivity disorder |
ORPHA:776 |
Ring Chromosome 21 Syndrome |
|
Syndactyly, Clinodactyly, Small hand, Holoprosencephaly |
ORPHA:1445 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Iris coloboma |
ORPHA:77298 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb |
ORPHA:2182 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Acrofacial Dysostosis, Weyers Type |
|
Mild short stature, Facial cleft |
ORPHA:952 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor... |
ORPHA:562 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Attention deficit hyperactivity disorder, Polycystic ovaries |
ORPHA:284180 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Optic atrophy |
OMIM:611721 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, ... |
ORPHA:163966 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Anteverted nares, Fractured radius, Micrognathia, Decreased fibular diameter, Flared... |
OMIM:616897 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Preaxial foot polydactyly, Convex nasal ridge, Semilobar holopro... |
OMIM:245552 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Micrognathia, Talipes equinovarus, Microphthalmia, Intrauterine growth retard... |
OMIM:616570 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R... |
OMIM:602271 |
Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... |
OMIM:620010 |
1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Holoprosence... |
ORPHA:250999 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
Acrofacial Dysostosis, Catania Type |
|
Intrauterine growth retardation, Spina bifida occulta, Short stature, Facial cleft |
ORPHA:1786 |
Joubert Syndrome 16 |
|
Encephalocele, Coloboma, Polydactyly, Molar tooth sign on MRI |
OMIM:614465 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Jacobsen Syndrome |
|
Brachydactyly, Flat occiput, Anteverted nares, Depressed nasal bridge, Micrognathia, Missing ribs... |
OMIM:147791 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma |
OMIM:274270 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Restlessness, Male hypogonadism, Bruxism |
OMIM:300055 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Facial cleft, Calvarial skull defect |
ORPHA:1647 |
Alobar Holoprosencephaly |
|
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal brainstem morphology, Hip... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal brainstem morphology, Hip... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal brainstem morphology, Hip... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal brainstem morphology, Hip... |
ORPHA:220386 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Pes planus, Coloboma |
OMIM:618295 |
Holoprosencephaly 11 |
|
Holoprosencephaly |
OMIM:614226 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Coloboma, Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... |
OMIM:612651 |
Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Hydrocephalus, Anencephaly, Microphthalmia |
ORPHA:2189 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
49,Xxxxy Syndrome |
|
Pes planus, Wide nose, Depressed nasal bridge, Down-sloping shoulders, Coxa valga, Depressed nasa... |
ORPHA:96264 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Anteverted nare... |
OMIM:619879 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Trisomy 18 |
|
Microretrognathia, Cyclopia, Choanal atresia, Spina bifida, Camptodactyly of finger, Abnormality ... |
ORPHA:3380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Hydrocephalus, Coloboma, Hypoplasia of the brainstem, Microphthalmia |
OMIM:613153 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Prominent nasal bridge, Microg... |
ORPHA:1587 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Anteverted nares, Micrognathia, Wide anterior fontanel, Ulnar bowing, Sho... |
OMIM:619135 |
Trisomy 13 |
|
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Calvarial skull de... |
ORPHA:3378 |
Pierpont Syndrome |
|
Wide nose, Prominent subcalcaneal fat pad, Broad nasal tip, Short toe, Brachycephaly, Short foot,... |
OMIM:602342 |
Craniotelencephalic Dysplasia |
|
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, M... |
ORPHA:1528 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia involving the nose, Absent nares, Holoprosencephaly, Mandibular aplasia, Cyclopia |
ORPHA:990 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Cyclopia, Holoprosence... |
ORPHA:280200 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Micrognathia, Hypoplasia of the pons, Prominent nose, Talipes equinovarus, Microphthalmia, Intrau... |
OMIM:616171 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Cyclopia, Radial club hand, Holoprosencephaly |
ORPHA:2165 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Anteverted nares, Wide nasal bridge, Brachycephaly, Lobar holoprosencephaly, Coxa var... |
OMIM:614701 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Frontal bossing, Facial cleft, Brachycephaly |
ORPHA:1236 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... |
ORPHA:3186 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Ulnar deviation of finger, Coloboma, Radioulnar synostosis, Chorioreti... |
ORPHA:921 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Frontal bossing, Short femur, Depressed nasal bridge, Anteverted nar... |
OMIM:618188 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Coloboma, Hydrocephalus, Chorioretinal coloboma |
OMIM:619111 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis... |
OMIM:613313 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Brachydactyly, Broad hallux, Prominent nasal bridge, Micrognathia, Tapered finger,... |
OMIM:618659 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Facial cleft |
OMIM:239800 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Hydrocephalus, Postaxial hand polydactyly, 2-3 toe syndactyly, P... |
OMIM:264480 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia... |
OMIM:146510 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Prominent occi... |
OMIM:619339 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, Olivopontocerebel... |
ORPHA:370959 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Depressed nasal bridge, Micrognathia, Missing ribs, Hydrocephalus, Brachycephaly, Pro... |
OMIM:220210 |
Holoprosencephaly |
|
Anophthalmia, Flat occiput, Depressed nasal ridge, Absent nares, Holoprosencephaly, Chorioretinal... |
ORPHA:2162 |
Pelviscapular Dysplasia |
|
Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia,... |
ORPHA:93333 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Abnormal calvaria morphology |
ORPHA:2432 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus, Facial cleft, Hydrops fetalis |
ORPHA:268249 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... |
OMIM:602390 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy |
ORPHA:86893 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Joubert Syndrome 14 |
|
Encephalocele, Prominent nasal bridge, Postaxial polydactyly, Hydrocephalus, Meningocele, Colobom... |
OMIM:614424 |
Ivic Syndrome |
|
Frontal bossing, Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent th... |
OMIM:147750 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Radioulnar synostosis |
OMIM:302905 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Holoprosencephaly, Talipes equ... |
ORPHA:261236 |
Isolated Exencephaly |
|
Abnormal calvaria morphology, Depressed nasal bridge, Holoprosencephaly, Hypoplasia of the fronta... |
ORPHA:563612 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal placement of th... |
ORPHA:93267 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Trisomy 1Q |
|
Frontal bossing, Anophthalmia, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Hydr... |
ORPHA:261344 |
Cofs Syndrome |
|
Talipes, Camptodactyly of finger, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Mic... |
ORPHA:1466 |
Verheij Syndrome |
|
Branchial cyst, Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Clinodactyly, Hip disl... |
OMIM:615583 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Brachycephaly, Coloboma, Hip dysplasia, Camptodactyl... |
OMIM:611961 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot... |
OMIM:206920 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Abnormal macular morphology... |
OMIM:607616 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Wide nose, Short femur, Rhizomelia, Sandal gap, Recurrent upper respiratory tract ... |
OMIM:607143 |
Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Overlapping toe, Micrognathia, Bulbous nose, Hip dislocation, Umbilical hernia, ... |
OMIM:613884 |
Agnathia-Otocephaly Complex |
|
Mandibular aplasia, Wide nose, Holoprosencephaly, Micrognathia |
OMIM:202650 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Treacher-Collins Syndrome |
|
Encephalocele, Frontal bossing, Branchial fistula, Facial cleft, Brachycephaly, Microphthalmia, M... |
ORPHA:861 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Hydrocephalus, Short toe, Anencephal... |
OMIM:269860 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Low hanging columella |
OMIM:619318 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ... |
OMIM:211350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Hyperactivity, Compulsive behaviors, Aggressive behavior |
OMIM:309520 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Coloboma, Dolichocephaly, Clinodactyly of the 5th fing... |
OMIM:167730 |
Cat-Eye Syndrome |
|
Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Intrauterine growth retarda... |
ORPHA:195 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Talipes, Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Umbilical hernia... |
ORPHA:2166 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly, Coloboma, Ta... |
OMIM:616789 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
15Q24 Microdeletion Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Proximal placement of thumb, Abnormal thumb morph... |
ORPHA:94065 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hydrocephalus, Coloboma, Hypoplasia of the brainstem, Microphthalmia |
OMIM:615249 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Plagiocephaly, Microphthalmia,... |
ORPHA:85284 |
Pierpont Syndrome |
|
Pes planus, Wide nasal ridge, Short toe, Brachycephaly, Abnormality of the plantar skin of foot, ... |
ORPHA:487825 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Moebius Syndrome |
|
Syndactyly, Abnormal nasopharynx morphology, Pes planus, Depressed nasal bridge, Brachydactyly, M... |
OMIM:157900 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Micromelia, Aqueductal stenosis, Micrognathia, Short tibia, Humerora... |
OMIM:251230 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Calf muscle hypertrophy, Hypoplasia of the brainstem, Holoprosencep... |
OMIM:253800 |
Pontocerebellar Hypoplasia, Type 11 |
|
Pes planus, Hypoplasia of the pons, Bulbous nose, Coloboma, Talipes equinovarus |
OMIM:617695 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ... |
OMIM:611134 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Brachycephaly |
ORPHA:2528 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Cardiomegaly |
ORPHA:324410 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Abnormality of cartilage of external ear, Bilateral microphthalmos, Recurrent upper re... |
ORPHA:2399 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Brain stem co... |
OMIM:602080 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Neutr... |
ORPHA:79312 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal al... |
ORPHA:228390 |
Baraitser-Winter Syndrome 2 |
|
Trigonocephaly, Microphthalmia, Coloboma |
OMIM:614583 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, ... |
ORPHA:90674 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Optic nerve hypoplasia, Parietal foramina, Midline facial cleft, Brachycephaly |
OMIM:603671 |
Trisomy 20P |
|
Hypospadias, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Macroorchidism, Hyd... |
ORPHA:261318 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Depressed nasal bridge, Hydrocephalus, Polydactyly, Microphthalmia |
OMIM:602501 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia, Facial cleft, Hypoplasia of the frontal bone |
ORPHA:306542 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells |
OMIM:269840 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,... |
ORPHA:90790 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia, I... |
ORPHA:3412 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5th finger, Ir... |
ORPHA:251014 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Depressed nasal bridge, Brainstem dysplasia, Abnormal foot morpho... |
OMIM:608091 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... |
OMIM:235200 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Iris coloboma |
OMIM:610092 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Calf muscle hypertrophy, Microphthalmia, Hydrocephalus, Hypoplasia of the brainstem |
OMIM:613155 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Ring Chromosome 7 Syndrome |
|
Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Small hand, Brachycephaly, Wid... |
ORPHA:1449 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Hartsfield Syndrome |
|
Syndactyly, Wide nose, Craniosynostosis, Alobar holoprosencephaly, Lobar holoprosencephaly, Ectro... |
OMIM:615465 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Micro... |
OMIM:615181 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Anteverted nares, Depressed nasal ridge, Patellar hypoplasia, Coloboma, ... |
ORPHA:464288 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia |
ORPHA:1046 |
Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb |
ORPHA:3434 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Abnormal occipital bone morphology, ... |
ORPHA:63259 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypo... |
ORPHA:959 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal external nose morphology, Prominent oc... |
ORPHA:556955 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia, Intrauterine growth retardation |
ORPHA:291 |
Spondyloepiphyseal Dysplasia Congenita |
|
Short femur, Micrognathia, Abnormal foot morphology, Upper limb undergrowth, Flat acetabular roof... |
ORPHA:94068 |
Otodental Dysplasia |
|
Coloboma, Anteverted nares |
OMIM:166750 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Optic disc coloboma, Hypoplas... |
OMIM:169550 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Temtamy Syndrome |
|
Frontal bossing, Pes planus, Convex nasal ridge, Micrognathia, Hip dislocation, Short 2nd toe, Ta... |
OMIM:218340 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Holoprosencephaly, Biparietal ... |
ORPHA:818 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Isolated Arrhinia |
|
Microphthalmia, Facial cleft |
ORPHA:1134 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, 2-5 finger syndactyly, Optic nerve hypoplasia, Prominent nasal bridge, Abnorma... |
ORPHA:468631 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ... |
OMIM:613848 |
Babesiosis |
|
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Anorexia, Splenomegaly, Jaundice, Leukopenia... |
ORPHA:108 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
3Mc Syndrome 3 |
|
Growth delay, Short stature, Facial cleft |
OMIM:248340 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Depressed nasal bridge, Brachycephaly, Coloboma |
OMIM:612379 |
Central Precocious Puberty In Male |
|
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy... |
ORPHA:649929 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... |
OMIM:615630 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... |
ORPHA:1553 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Constricting Bands, Congenital |
|
Encephalocele, Facial cleft |
OMIM:217100 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... |
OMIM:616602 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Myelomeningocele, Bilateral microphthalmos, Hydrocephalus, Facial cl... |
OMIM:219000 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Talipes equinovarus, Hypoplasia of the brainstem |
OMIM:617255 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Abnormal... |
ORPHA:905 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni... |
OMIM:603903 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... |
ORPHA:400 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias |
OMIM:618874 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus, Retinal coloboma |
OMIM:601794 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Frontal bossing, Wide nose, Flat occiput, Broad hallux, Prominent nasal bridge, Abnormality of th... |
ORPHA:251028 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Knee flexion contracture, Camp... |
OMIM:619694 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Prominent nasal bridge, Coloboma |
OMIM:618652 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Micromelia, Finger clinodactyly, Clinodactyly of the ... |
ORPHA:508488 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Holoprosencephaly 9 |
|
Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polyd... |
OMIM:610829 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Micrognathia, Hydrocephalus, Bulbous nose, Absent distal phalanges, Short... |
OMIM:614219 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... |
ORPHA:158029 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Posterior plagiocephaly, Rhizomelic arm shortening, Polyhydramnios, Abnormally large globe |
ORPHA:96190 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Optic nerve hypoplasia, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida oc... |
OMIM:618736 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Anteverted nares, Micrognathia, Wide nasal bridge, Microphthalmia |
OMIM:600118 |
Cataract 9, Multiple Types |
|
Microphthalmia, Iris coloboma |
OMIM:604219 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Intrauterine growth retardation |
ORPHA:858 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Charge Syndrome |
|
Brachydactyly, Anophthalmia, Depressed nasal bridge, Choanal atresia, Talipes, Aqueductal stenosi... |
ORPHA:138 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Marden-Walker Syndrome |
|
Anteverted nares, Arachnodactyly, Micrognathia, Wide anterior fontanel, Hypoplasia of the brainst... |
OMIM:248700 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:158057 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, ... |
OMIM:210710 |
Mosaic Variegated Aneuploidy Syndrome |
|
Frontal bossing, Wide nose, Micrognathia, Depressed nasal ridge, Holoprosencephaly, Clinodactyly ... |
ORPHA:1052 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Intr... |
ORPHA:53035 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal nostril morphology, Abnormal morphology of the radius |
ORPHA:3469 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Heparan sulfate exc... |
OMIM:252920 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... |
OMIM:611490 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Adducted thumb, Genu valgu... |
OMIM:616145 |
Heart And Brain Malformation Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wide anterior fontanel, Wide n... |
OMIM:616920 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Prominent nose, Microphthalmia, Convex... |
OMIM:610756 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Frontal bossing, Micrognathia, Coloboma, Clinodactyly of the 5th finger, Microphthalmia |
OMIM:617306 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Occipital encephalocele, Broad hallux, Micrognathia, Postaxial hand polydactyl... |
OMIM:615948 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell, Microp... |
ORPHA:1135 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Hypoplasia of the brainstem |
OMIM:615771 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Plagiocephaly, Dolichocephaly, Aniridia, Umbilical hernia |
ORPHA:1101 |
Joubert Syndrome 37 |
|
Frontal bossing, Wide nose, Anteverted nares, Postaxial polydactyly, Wide nasal bridge, Molar too... |
OMIM:619185 |
Joubert Syndrome 23 |
|
Coloboma, Polydactyly |
OMIM:616490 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Brachycephaly, Midline defect of the nose, Bifid nose, Cranium bifidum... |
OMIM:229400 |
1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Bulbous nose, Wide nasal br... |
ORPHA:250989 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Talipes, Micrognathia, Preaxial hand polyd... |
ORPHA:564 |
Osteoporosis-Pseudoglioma Syndrome |
|
Frontal bossing, Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology... |
ORPHA:2788 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly... |
OMIM:209950 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Pes planus, Slender finger, Bulbous nose, Coloboma, Clinodactyly of the 5th finger, Umbilical her... |
ORPHA:329224 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Facial cleft, Intrauterine growth retardation |
OMIM:263650 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Ring Chromosome 10 Syndrome |
|
Frontal bossing, Sandal gap, Micrognathia, Tapered finger, Wide nasal bridge, Microphthalmia, Int... |
ORPHA:1438 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Duplication of phalanx of hallux, Wide nasal bridge, Chorioretinal coloboma, Tr... |
OMIM:243310 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of ... |
ORPHA:2547 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral r... |
OMIM:216360 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... |
OMIM:607323 |
Achondrogenesis, Type Ii |
|
Frontal bossing, Polyhydramnios, Edema, Abnormally large globe, Disproportionate short-trunk shor... |
OMIM:200610 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Prominent nasal bridge, Rocker bottom foot, Micrognathia, Prominent nose, Coxa valga, Knee flexio... |
OMIM:214150 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Impulsivity, Precocious puberty, Unilateral renal hypoplasia, Agitation, Attention deficit hypera... |
OMIM:619950 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Posterior plagiocephaly, Short femur, Brachycephaly, Genu valgum |
OMIM:617798 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:1473 |
Martsolf Syndrome 1 |
|
Pes planus, Short metacarpal, Depressed nasal bridge, Micrognathia, Broad nasal tip, Metatarsus a... |
OMIM:212720 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp... |
ORPHA:2334 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormal occipital bone morphology |
ORPHA:2356 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Pes cavus |
OMIM:278780 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... |
OMIM:270400 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Broad hallux, Tapered finger, 1-2 toe syndactyly, Talipes, Cli... |
OMIM:301044 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... |
ORPHA:507 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Holoprosencephaly, Microretrognathia, Mesoaxial polydactyly, Radial bowing... |
ORPHA:672 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Short stature, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Brac... |
OMIM:218350 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia |
ORPHA:899 |
3P25.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Prominent nose, Micrognath... |
ORPHA:435638 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, 2-4 finger synd... |
OMIM:107480 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Rere-Related Neurodevelopmental Syndrome |
|
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hip dysplasia, Chorioretinal co... |
ORPHA:494344 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thy... |
ORPHA:744 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Wide nasal bridge, Camptodactyly, Trigonocephaly, Microphthalmia, Clinodactyl... |
OMIM:618804 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Halperin-Birk Syndrome |
|
Micrognathia, Hip dislocation, Semilobar holoprosencephaly, Talipes equinovarus, Umbilical hernia... |
OMIM:618651 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Micrognathia, Camptodactyly of finger, Intrauterine growth retardation |
ORPHA:48431 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Dysphagia, Rod-con... |
OMIM:252930 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Micrognathia, Coloboma, Short palm, Clinodactyly of the 5th finger, Iris coloboma, Microretrognat... |
ORPHA:508498 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Prominent nasal bridge, Rocker bottom foot, Micrognathia, Camptodactyly of finger, Bilateral micr... |
OMIM:610758 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, Lipomyelomeningoc... |
OMIM:601707 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Prominent nose, Short tibia,... |
OMIM:616300 |
Oculofaciocardiodental Syndrome |
|
Prominent nasal bridge, Bifid nasal tip, Short thumb, 2-3 toe syndactyly, Flexion contracture of ... |
ORPHA:2712 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Brachycephaly, Coloboma, Cutane... |
OMIM:606851 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Carney Complex |
|
Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma... |
ORPHA:1359 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Hydrocep... |
ORPHA:974 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Micrognathia, Abnormal nasal mor... |
ORPHA:404440 |
Charge Syndrome |
|
Hypoplasia of the ulna, Anophthalmia, Choanal atresia, Down-sloping shoulders, Micrognathia, Abse... |
OMIM:214800 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Nonimmune hydrops fetalis, Craniosynostosis, Plagiocephaly, Decreased calvarial os... |
OMIM:618265 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Acrocallosal Syndrome |
|
Microretrognathia, Frontal bossing, Finger syndactyly, Toe syndactyly, Duplication of thumb phala... |
OMIM:200990 |
Mend Syndrome |
|
Overlapping fingers, Broad hallux, Prominent nasal bridge, Overlapping toe, Micrognathia, Wide an... |
ORPHA:401973 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Microphthalmia, Syndromic 3 |
|
Frontal bossing, Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postna... |
OMIM:206900 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Broad hallux, Bulbous nose, Microphtha... |
OMIM:614105 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... |
OMIM:266200 |
Cold Agglutinin Disease |
|
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic dis... |
OMIM:617516 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Splenome... |
ORPHA:824 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Micrognathia, Aplasia of... |
OMIM:301043 |
Srd5A3-Cdg |
|
Coloboma, Palmoplantar keratoderma, Optic disc hypoplasia |
ORPHA:324737 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Depressed nasal bridge, Abnormal foot morphology, Bulbous nose, Bilateral microphthal... |
ORPHA:369891 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Camptodactyly of finger, Short thumb, Bulbous nose, Retinal coloboma, Microp... |
OMIM:244300 |
Branchio-Oculo-Facial Syndrome |
|
Broad nasal tip, Preaxial hand polydactyly, Wide nasal bridge, Coloboma, Dolichocephaly, Intraute... |
ORPHA:1297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Micrognathia, Meningoencephalocele, Hydrocephalu... |
OMIM:236670 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Missing ribs, Hydroce... |
ORPHA:3301 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Frontal bossing, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Wide anterior fonta... |
OMIM:617925 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... |
ORPHA:231736 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Short nose, Sandal gap |
OMIM:300887 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia |
OMIM:614979 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Frontorhiny |
|
Encephalocele, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, Midline... |
ORPHA:391474 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Brachycephaly, Parietal bossing, Genu varum, Long toe, Anteverted nares, Depressed ... |
OMIM:264090 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ... |
OMIM:601186 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Choanal atresia, Micrognathia, Tapered finger, Short thumb, Anenc... |
OMIM:619148 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Frontal bossing, Broad long bones, Fifth finger distal phalanx clinodactyly, Underdeveloped nasal... |
OMIM:257850 |
Hallermann-Streiff Syndrome |
|
Frontal bossing, Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Micrognathia, M... |
OMIM:234100 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine |
OMIM:252900 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly |
OMIM:602361 |
Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal, Prominent nasal bridge, Prominent nose |
ORPHA:627 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Thrombocy... |
OMIM:606003 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Overlapping toe, Bulbous nose, Wide nasal bridge, Retinal col... |
OMIM:618571 |
Premature Aging Syndrome, Penttinen Type |
|
Frontal bossing, Aplasia of the nasal bone, Brachydactyly, Prominent nasal bridge, Convex nasal r... |
OMIM:601812 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Umbilical hernia, Joint contracture ... |
OMIM:618914 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Exencephaly, Brachycephaly |
ORPHA:2211 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... |
OMIM:235555 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Small hand, Short foot, Severe intrauterin... |
OMIM:241410 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:261534 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Wide nasal ... |
ORPHA:1352 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Microphthalmia |
OMIM:308350 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Lobar holoprosencephaly, Prominent occiput, Intrauterine growth retardati... |
OMIM:618500 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Braddock-Carey Syndrome 2 |
|
Clinodactyly, Microphthalmia, Bulbous nose |
OMIM:619981 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Aspartylglucosaminuria |
|
Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism |
ORPHA:93 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, ... |
OMIM:614643 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Bilateral microphthalmos, Atrophy/Degeneration affecting the brainstem |
ORPHA:77299 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Impulsivity, Increased circulating g... |
ORPHA:99330 |
Basal Cell Nevus Syndrome 1 |
|
Frontal bossing, Down-sloping shoulders, Spina bifida, Hydrocephalus, Plantar pits, Irregular oss... |
OMIM:109400 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Camptodactyly of toe, Wide nasal bridge, Biparietal... |
ORPHA:251038 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Depressed nasal bridge, Talipes, Micrognathia, Talipes equinovarus, Broa... |
OMIM:300990 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha... |
ORPHA:91138 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl... |
ORPHA:264580 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Coloboma, Recurrent patellar dislocatio... |
OMIM:615877 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Micrognathia, Prominent nose |
OMIM:606744 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Prominent nose, Micrognathia, Coloboma, Hypoplastic... |
OMIM:180849 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia |
OMIM:610256 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping fingers, Overlapping toe, Bulbous nose, Hip dysplasia, Prominent fingertip pads, Micr... |
OMIM:618494 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Intrauterine grow... |
ORPHA:290 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Short stature, Brachycephaly |
ORPHA:264200 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia |
OMIM:605309 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... |
ORPHA:1655 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Acrania, Micrognathia, Holoprosencephaly, Short nose |
OMIM:618820 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Splenomegaly, Thrombocytopenia,... |
ORPHA:77259 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Mosaic Trisomy 1 |
|
Microretrognathia, Frontal bossing, Long toe, Toe syndactyly, Depressed nasal bridge, Arachnodact... |
ORPHA:1692 |
Fanconi Anemia, Complementation Group S |
|
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,... |
OMIM:617883 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Microgastria-Limb Reduction Defect Syndrome |
|
Frontal bossing, Anophthalmia, Plagiocephaly, Growth delay, Microphthalmia |
ORPHA:2538 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Aggressive behavior, Ab... |
ORPHA:247585 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... |
ORPHA:398124 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia |
ORPHA:75233 |
Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Anophthalmia |
ORPHA:90321 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f... |
ORPHA:3103 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Frontal bossing, Pes planus, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, 2-3 toe syn... |
OMIM:620098 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Prominent nasal bridge, Micrognathia, Hydrocephalus, Preaxial polydactyly... |
OMIM:243605 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Spina bifida, Lo... |
ORPHA:2092 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... |
OMIM:232220 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Syndactyly, Anteverted nares, Choanal atresia, Micrognathia, Hypoplasia of the p... |
OMIM:616975 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... |
OMIM:235255 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Coloboma, Abnormal finger morphology, Cranial asymmetry |
OMIM:163200 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Anteverted nares, Wide nasal bridge, Microphthalmia, Thick nasal alae |
ORPHA:1942 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Flat occiput, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microphthalmia |
OMIM:152950 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... |
ORPHA:79240 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Hydrocephalus, Radial dysplasia, Absent thumb |
OMIM:617244 |
Otodental Syndrome |
|
Anteverted nares, Lens coloboma, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Coloboma, Phocomelia, Syn... |
OMIM:268300 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Aspartylglucosaminuria |
|
Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism |
OMIM:208400 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... |
ORPHA:158061 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Retinal dystrophy, Pancreat... |
OMIM:617052 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Anteverted nares, Synostosis of carpal bones, Micrognathia |
ORPHA:3191 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Frontal bossing, Short humerus, Short femur, Optic disc hypoplasia, Wide nasal ridge, A... |
ORPHA:3455 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Split foot |
OMIM:601349 |
Fetal Alcohol Syndrome |
|
Anteverted nares, Micrognathia, Biparietal narrowing, Microphthalmia, Short nose, Intrauterine gr... |
ORPHA:1915 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Marcus-Gunn Syndrome |
|
Coloboma, Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Abnormal occipit... |
ORPHA:3472 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Port... |
OMIM:207800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Micrognathia, Hydrocephalus, Buphthalmos, Coloboma, Hypoplasia of the retina, Hypoplasia of the b... |
OMIM:253280 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Macular atrophy, Microvesicular hepatic steatosis, Splenomegaly, ... |
OMIM:619418 |
Micro Syndrome |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Retinal coloboma, Microphthalmia, Short nose, ... |
ORPHA:2510 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Retinal dystrophy, Aggressive behavior, Optic disc coloboma, Re... |
OMIM:213300 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Prominent nasal bridge, Sandal gap, Micrognathia, Tapered fing... |
ORPHA:193 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia |
ORPHA:137634 |
Momo Syndrome |
|
Frontal bossing, Bilateral microphthalmos, Brachycephaly, Femoral bowing, Large hands, Short ster... |
ORPHA:2563 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... |
OMIM:604757 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Retinal coloboma |
ORPHA:363741 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome... |
ORPHA:251066 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Talipes, Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, Plagiocephaly, Coloboma,... |
ORPHA:453499 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos... |
OMIM:618935 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Frontal bossing, Disproportionate short-limb short stature, Facial cleft, Hydrops fetalis |
ORPHA:93271 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst... |
ORPHA:464329 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor... |
OMIM:609053 |
Galloway-Mowat Syndrome 1 |
|
Flat occiput, Narrow nasal ridge, Prominent nose, Micrognathia, Slender finger, Hypoplasia of the... |
OMIM:251300 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... |
ORPHA:3202 |
Refsum Disease |
|
Short metacarpal, Abnormal foot morphology, Anosmia, Hammertoe, Abnormal epiphysis morphology, Mi... |
ORPHA:773 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Polydactyly |
ORPHA:17 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Osteopathia striata, Short metatarsal, ... |
OMIM:305600 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Brachycephaly, Microphthalmia, Short nose, Clinodactyly ... |
OMIM:614225 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle ... |
OMIM:302960 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... |
OMIM:239200 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Turricephaly, Ulnar deviation of the hand, Rocker bottom foot, Broad nasal tip, Under... |
OMIM:272950 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Frontal bossing, Depressed nasal bridge, Lower limb asymmetry, Neonatal epiphyseal stippling, Hip... |
ORPHA:35173 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Severe short stature, Hydrocephalus, Growth delay, Microphthalmia, Midface retrusion |
ORPHA:2556 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Bulbous nose, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:212550 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Toe syndactyly, Finger syndactyly |
ORPHA:261272 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Hypogonadism, Decreased testicular size |
OMIM:201100 |
Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Genu recurvatum, Prominent occiput, Plagiocephaly, Biparietal narrowing, Microph... |
ORPHA:2612 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Brachycephaly, Ankle clonus, Clinodactyly of the 5th finger, Microphthalmia, Short ... |
OMIM:614222 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Cryptorchidism, Polysplenia, Attention deficit hyperactivity di... |
OMIM:614294 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... |
ORPHA:231214 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Optic disc coloboma, Abnormal shoulder morphology, Ch... |
ORPHA:568 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Bowing of the long bones, Syndactyly, Talipes, Postaxial polydactyly, Mi... |
OMIM:249000 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Choanal atresia, Anosmia, Coloboma, Aplasia of the nose, Microphthalm... |
OMIM:603457 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... |
OMIM:257220 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx o... |
ORPHA:364577 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul... |
OMIM:300972 |
Wilson Disease |
|
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemoly... |
OMIM:277900 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Micrognathia, Absent thumb, Absent radius, Hydrocephalus, Wide nasal bridge, ... |
OMIM:614083 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis |
OMIM:207750 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Broad finger, Microphthalmia, Short phalanx of finger |
OMIM:302350 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Prominent nasal bridge, Anteverted nares, Brachycephaly |
OMIM:615663 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L... |
OMIM:260920 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Toe syndactyly, Choanal atresia, Broad nasal tip, Split hand, De... |
OMIM:129900 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice... |
OMIM:615512 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia, Calvarial skull ... |
ORPHA:2052 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... |
ORPHA:822 |
Phakomatosis Pigmentokeratotica |
|
Hemiatrophy, Coloboma, Spina bifida |
ORPHA:2874 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Wide nasal bridge, 3-4 toe syndactyly, Microphthalmia, Clinodactyly, Th... |
OMIM:618727 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... |
OMIM:276700 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Depressed nasal bridge, Overlapping toe, Prominent nose, Micrognathi... |
OMIM:300895 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Depressed nasal ridge, Polydactyly, Holoprosenceph... |
ORPHA:95494 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short umbilical cord, Tapered finger |
OMIM:618367 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue ... |
OMIM:607625 |
Spondylo-Ocular Syndrome |
|
Pes planus, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Deafness, X-Linked 7 |
|
Wide nasal bridge, Unilateral microphthalmos |
OMIM:301018 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Pes planus, Optic nerve hypoplasia, Sagittal craniosynostosis, Underdeveloped nasal alae, Broad n... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Pes planus, Optic nerve hypoplasia, Sagittal craniosynostosis, Underdeveloped nasal alae, Broad n... |
ORPHA:352665 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Fin... |
ORPHA:84 |
Kabuki Syndrome |
|
Hydrocephalus, Small hand, Hip dislocation, Coloboma, Short columella, Short middle phalanx of fi... |
ORPHA:2322 |
Thauvin-Robinet-Faivre Syndrome |
|
Pes planus, Bowing of the legs, Long hallux, Pedal edema, Coloboma, Large hands, Retinal coloboma... |
OMIM:617107 |
Tuberous Sclerosis Complex |
|
Renal cyst, Chorioretinal hypopigmentation, Pheochromocytoma, Hyperactivity, Repetitive compulsiv... |
ORPHA:805 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping fingers, Anteverted nares, Overlapping toe, Broad distal phalanx o... |
ORPHA:464738 |
Trichothiodystrophy 3, Photosensitive |
|
Trigonocephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:616395 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Buphthalmos, Hypoplasia of the brainstem, Microphthalmia |
OMIM:613150 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Micrognathia, Brachycephaly, ... |
OMIM:607932 |
Bohring-Opitz Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Coloboma, Trigonocepha... |
ORPHA:97297 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Hydrocephalus, Bulbous nose, Wide nasal bridge, Depressed nasal tip, Plagioceph... |
OMIM:619475 |
Fontaine Progeroid Syndrome |
|
Syndactyly, Turricephaly, Depressed nasal bridge, Craniosynostosis, Micrognathia, Wide anterior f... |
OMIM:612289 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Iris coloboma, Macular coloboma |
OMIM:615145 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Depressed nasal bridge, Choanal atresia, Broad hallux, Underdeveloped nasal alae,... |
OMIM:620186 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Wide nose, Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, A... |
ORPHA:284160 |
Renpenning Syndrome 1 |
|
Micrognathia, Bulbous nose, Wide nasal bridge, Brachycephaly, Narrow foot, Coloboma, Synostosis o... |
OMIM:309500 |
Galloway-Mowat Syndrome 3 |
|
Frontal bossing, Arachnodactyly, Micrognathia, Hip dislocation, Camptodactyly, Microphthalmia, Mi... |
OMIM:617729 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Brachydactyly, Broad thumb, Micrognathia |
OMIM:614526 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Growth delay |
OMIM:614886 |
Familial Multiple Lipomatosis |
|
Coloboma, Bowing of the long bones |
ORPHA:199276 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ... |
OMIM:608594 |
Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Microphakia, Chorior... |
OMIM:612109 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Clinodactyly, 4-5 finger syndac... |
OMIM:164200 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, Camptod... |
OMIM:614230 |
Atelis Syndrome 2 |
|
Frontal bossing, Pes planus, Remnants of the hyaloid vascular system, Prominent nose, Micrognathi... |
OMIM:620185 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... |
OMIM:269700 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:269400 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Small hand, Short foot, Microphthalmia, Intrauterine gro... |
ORPHA:2714 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Micrognathia, Long fingers, Brachycephaly, Microphthalmia |
OMIM:156610 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Wide nasal bridge, Brachycephaly, Microphthalmia, Acetabular dysplasia, Broad t... |
OMIM:201180 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Plantar pits, Umbilical hernia, Polydactyly, Trigonocephaly, Microphthalmia, Short... |
ORPHA:77301 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus |
OMIM:616538 |
Hallermann-Streiff Syndrome |
|
Frontal bossing, Choanal atresia, Underdeveloped nasal alae, Micrognathia, Small hand, Brachyceph... |
ORPHA:2108 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery sten... |
OMIM:617913 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis, Micrognathia, Aprosencephaly, Talipes equinovarus, Absent mesencephalon |
OMIM:601374 |
Dubowitz Syndrome |
|
Syndactyly, Pes planus, Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge,... |
OMIM:223370 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stage 5 chronic ki... |
OMIM:249100 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis |
OMIM:238600 |
Rodrigues Blindness |
|
Narrow nasal bridge, Microphthalmia |
OMIM:268320 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Mic... |
OMIM:256520 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis |
OMIM:615947 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... |
OMIM:236680 |
Myhre Syndrome |
|
Brachydactyly, Overlapping toe, Prominent nasal bridge, Short toe, 2-3 toe syndactyly, Cone-shape... |
OMIM:139210 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Proximal placement of th... |
ORPHA:261112 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Rothmund-Thomson Syndrome, Type 2 |
|
Frontal bossing, Congenital hip dislocation, Depressed nasal bridge, Micrognathia, Short thumb, S... |
OMIM:268400 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephroc... |
ORPHA:342 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Nephrocalcinosis |
ORPHA:53715 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Clinodactyly, Short palm, Clinodactyly of the 5th finger, Iris colob... |
OMIM:613406 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Anteverted nares, 2-3 toe syndactyly |
OMIM:616449 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia, Umbilical hernia, Short stature |
OMIM:300166 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia, Intra... |
OMIM:603467 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Micrognathia, Tapere... |
OMIM:620005 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Short nose, Anteverted nares |
OMIM:234050 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Aplasia of the distal phalanx of... |
OMIM:608670 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein... |
OMIM:609049 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Dolichocephaly, Microphthalmia, In... |
OMIM:113620 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Cherry red spot of the ma... |
ORPHA:77293 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Tapered finger, Clinodactyly of the 5th finger, Microphthalmia, Short nose |
ORPHA:65286 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Prominent nose, Micrognathia, Brachycephaly, Prominent fingertip pads, Clinodactyly of the 5th fi... |
OMIM:612474 |
Cat Eye Syndrome |
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Micrognathia, Absent radius, Umbilical hernia, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:115470 |
Fanconi Anemia, Complementation Group D2 |
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Absent thumb, Absent radius, Short thumb, Hydrocephalus, Preaxial hand polydactyly, Partial dupli... |
OMIM:227646 |
Encephalocraniocutaneous Lipomatosis |
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Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:613001 |
Congenital Fibrinogen Deficiency |
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Microphthalmia, Clubbing of fingers |
ORPHA:335 |
Microcephaly 20, Primary, Autosomal Recessive |
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Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
22Q11.2 Deletion Syndrome |
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Turricephaly, Arachnodactyly, Choanal atresia, Spina bifida, Prominent nasal bridge, Micrognathia... |
ORPHA:567 |
Idiopathic Uveal Effusion Syndrome |
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Microphthalmia |
ORPHA:209956 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Pes planus, Wide nose, Arachnodactyly, Prominent nasal bridge, Broad hallux, Prominent nose, Shor... |
OMIM:601552 |
Fryns Syndrome |
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Anteverted nares, Micrognathia, Wide nasal bridge, Clinodactyly of the 5th finger, Microphthalmia... |
ORPHA:2059 |
Multiple Benign Circumferential Skin Creases On Limbs |
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Microphthalmia, Umbilical hernia, Lower limb asymmetry, Micrognathia |
ORPHA:2505 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Short palm, Larg... |
ORPHA:2636 |
Cockayne Syndrome B |
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Slender nose, Prominent nasal bridge, Ivory epiphyses of the phalanges of the hand, Hypoplasia of... |
OMIM:133540 |
Aicardi Syndrome |
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Missing ribs, Optic disc coloboma, Small hand, Plagiocephaly, Hip dysplasia, Chorioretinal colobo... |
ORPHA:50 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Syndactyly, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis of the capita... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Syndactyly, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis of the capita... |
ORPHA:353277 |
Norrie Disease |
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Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Anorexia, Splenomegaly... |
OMIM:181000 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Prominent nose, Long nose, Missing ribs, Bulbous nose, Depressed nasal ridge, ... |
ORPHA:2769 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Incontinentia Pigmenti |
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Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... |
ORPHA:464 |
Ectodermal Dysplasia-Blindness Syndrome |
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Narrow nasal bridge, Microphthalmia |
ORPHA:1806 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Coloboma, Recurrent upper respiratory tract infections, Micrognathia |
OMIM:618183 |
Tetraamelia Syndrome 1 |
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Choanal atresia, Micrognathia, Hydrocephalus, Single naris, Hypoplastic pelvis, Microphthalmia, T... |
OMIM:273395 |
Oculopalatocerebral Syndrome |
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Microphthalmia, Remnants of the hyaloid vascular system |
OMIM:257910 |
Fanconi Anemia, Complementation Group C |
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Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx, ... |
OMIM:227645 |
Femoral-Facial Syndrome |
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Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:221900 |
Esophageal Atresia |
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Coloboma, Clinodactyly, Choanal atresia |
ORPHA:1199 |
Fanconi Anemia, Complementation Group E |
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Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:600901 |
Aicardi Syndrome |
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Anteverted nares, Spina bifida, Proximal placement of thumb, Missing ribs, Optic disc coloboma, M... |
OMIM:304050 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Transverse facial cleft,... |
OMIM:164210 |
Microphthalmia, Isolated, With Corectopia |
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Microphthalmia |
OMIM:156900 |
Fanconi Anemia, Complementation Group A |
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Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227650 |
Papillorenal Syndrome |
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Microphthalmia, Optic disc coloboma, Retinal coloboma |
OMIM:120330 |
Cornea Plana 2, Autosomal Recessive |
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Microphthalmia |
OMIM:217300 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Broad hallux, Convex nasal ridge, Avascular necrosis of the capital femoral epiphysis, Coloboma, ... |
ORPHA:353281 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Microphthalmia |
OMIM:619053 |
Exudative Vitreoretinopathy 2, X-Linked |
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Microphthalmia |
OMIM:305390 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Microphthalmia, Intrauterine growth retardation |
ORPHA:2728 |
Trichothiodystrophy 1, Photosensitive |
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Microphthalmia, Short nose |
OMIM:601675 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Pes planus, Depressed nasal bridge, Micrognathia, Tapered finger, Long fingers, Wide nasal bridge... |
OMIM:616734 |
Vitreoretinochoroidopathy |
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Microphthalmia |
OMIM:193220 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Hyperextensibility of the finger joints, Pes planus, Remnants of the hya... |
OMIM:619539 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Degcags Syndrome |
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Syndactyly, Toe syndactyly, Anteverted nares, Prominent nasal bridge, Craniosynostosis, Prominent... |
OMIM:619488 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia, Depressed nasal bridge, Wide nasal bridge |
OMIM:110100 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Microphthalmia, Hydrocephalus, Iris coloboma |
OMIM:309801 |
Familial Exudative Vitreoretinopathy |
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Microphthalmia |
ORPHA:891 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Frontal bossing, Syndactyly, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Aqu... |
OMIM:619534 |
Fryns Syndrome |
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Microretrognathia, Anteverted nares, Rocker bottom foot, Proximal placement of thumb, Short thumb... |
OMIM:229850 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormal optic n... |
ORPHA:637 |
Fraser Syndrome 2 |
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Microphthalmia, Wide nose, Cutaneous syndactyly, Underdeveloped nasal alae |
OMIM:617666 |
Oculocerebrorenal Syndrome Of Lowe |
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Frontal bossing, Flat occiput, Micrognathia, Hip dislocation, Genu valgum, Buphthalmos, Umbilical... |
ORPHA:534 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Pes planus, Toe syndactyly, Toe clinodactyly, Lower limb asymmetry, Abnorma... |
ORPHA:857 |
Adams-Oliver Syndrome 1 |
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Encephalocele, Toe syndactyly, Talipes equinovarus, Microphthalmia, Calvarial skull defect, Brach... |
OMIM:100300 |
Trichothiodystrophy |
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Craniosynostosis, Hypoplasia of mandible relative to maxilla, Bilateral microphthalmos, Clubbing,... |
ORPHA:33364 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
Arthrogryposis, Distal, Type 4 |
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Cranial asymmetry |
OMIM:609128 |
Histiocytoid Cardiomyopathy |
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Microphthalmia, Hydrocephalus, Congenital aphakia |
ORPHA:137675 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Lymphedema-Distichiasis Syndrome |
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Microphthalmia, Micrognathia |
OMIM:153400 |
Xeroderma Pigmentosum, Complementation Group B |
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Microphthalmia |
OMIM:610651 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... |
OMIM:127000 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia |
OMIM:278730 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing |
OMIM:259770 |
Phace Syndrome |
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Microphthalmia, Iris coloboma, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Microphthalmia |
OMIM:300952 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Cortical thickening... |
ORPHA:93325 |
Cockayne Syndrome |
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Abnormal epiphysis morphology, Microphthalmia, Thickened calvaria, Convex nasal ridge |
ORPHA:191 |
Phace Association |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Cockayne Syndrome Type 3 |
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Microphthalmia, Narrow nose |
ORPHA:90324 |
Microphthalmia, Syndromic 1 |
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Growth delay, Microphthalmia, Anophthalmia |
OMIM:309800 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Hallux valgus, Syndactyly, Pes planus, Ulnar deviation of the hand, Broad hallux, Long toe, Arach... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Hallux valgus, Syndactyly, Pes planus, Ulnar deviation of the hand, Broad hallux, Long toe, Taper... |
ORPHA:2152 |
Proximal Renal Tubular Acidosis |
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Coloboma |
ORPHA:47159 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Calcaneovalgus deformity, Long hallux, Iris coloboma, Long toe, Syndactyly, Broad hallux, Arachno... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
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Wide nasal bridge, Chorioretinal coloboma, Microphthalmia, Prominent nasal tip, Iris coloboma, Lo... |
OMIM:235730 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Hip dislocation, Genu valgum, Finger swelling, Microphthalmia |
OMIM:309000 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:175780 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos, Choanal atresia, Micrognathia |
OMIM:154500 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
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Ureteral duplication, Ureteral hypoplasia, Hydrocele testis, Vesicoureteral reflux, Hydronephrosis |
OMIM:614080 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Hydroureter, Hydrocele testis, Congenital megaureter, Dysphagia, Hydronephrosis, Right ventricula... |
ORPHA:280633 |