Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depressed nasal brid... |
OMIM:609637 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... |
OMIM:611638 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Attention deficit hyperactivity disorder, Macroorch... |
ORPHA:3000 |
Acalvaria |
|
Hydrocephalus, Calvarial skull defect, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Holoprosencephaly 3 |
|
Holoprosencephaly, Depressed nasal bridge, Abnormality of the nose, Short columella, Single naris... |
OMIM:142945 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Short fem... |
OMIM:601560 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Hydranencephaly, Holoprosencephaly |
OMIM:617967 |
Cerebrooculonasal Syndrome |
|
Hydrocephalus, Craniosynostosis, Postaxial polydactyly, Optic nerve hypoplasia, Anophthalmia, Pos... |
OMIM:605627 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Hartsfield Syndrome |
|
Intrauterine growth retardation, Craniosynostosis, Depressed nasal bridge, Aplasia/Hypoplasia of ... |
ORPHA:2117 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma |
OMIM:613703 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Holoprosencephaly, Amelia, Coloboma, Anterior encephalocele, Foot oligodactyly |
OMIM:601357 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Holoprosencephaly, Pyriform aperture stenosis, Anophthalmia, Col... |
OMIM:147250 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Thanatophoric Dysplasia Type 1 |
|
Wide anterior fontanel, Hydrocephalus, Short femur, Depressed nasal bridge, Femoral bowing, Hypop... |
ORPHA:1860 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma |
OMIM:251505 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Coloboma |
OMIM:614497 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia affecting the eye, Holoprosencephaly, Anencephaly, Abnormal metacarpal morphol... |
ORPHA:1590 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Coloboma, Bifid distal phalanx of the thumb, Broad distal phalanx of the th... |
OMIM:120400 |
Holoprosencephaly 14 |
|
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Frontal bossing,... |
OMIM:619895 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Short toe, Holoprosencephaly, Brachydactyly, Tapered finger, Brachycephaly, Short finger |
OMIM:610680 |
Vissers-Bodmer Syndrome |
|
Intrauterine growth retardation, Tapered finger, Holoprosencephaly |
OMIM:619033 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Semilobar holoprosencephaly, Lambdoidal craniosynostosis |
OMIM:601370 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Microphthalmia, Holoprosenceph... |
OMIM:157170 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Macroorchidism |
OMIM:300143 |
Gombo Syndrome |
|
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia |
OMIM:233270 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hydrocephalus, Microphthalmia, Coloboma |
ORPHA:141333 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly, Coloboma |
OMIM:613094 |
Holoprosencephaly 7 |
|
Hydrocephalus, Alobar holoprosencephaly, Parietal bossing, Holoprosencephaly, Depressed nasal tip... |
OMIM:610828 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Brachydactyly, Bifid nose, Coloboma, Postaxial hand polydactyly, Bifid nasal tip... |
OMIM:136760 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Depressed nasal bridge, Micromelia, Brachydactyly, Frontal boss... |
ORPHA:93274 |
47,Xyy Syndrome |
|
Hyperactivity, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Attention defic... |
ORPHA:8 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Congenital macroorchidism |
OMIM:300624 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Coloboma, Micr... |
ORPHA:1617 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Micrognathi... |
ORPHA:1908 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, 11 pairs of ribs, Short nose, Rhizomelia,... |
OMIM:108720 |
Proboscis Lateralis |
|
Holoprosencephaly, Optic nerve hypoplasia, Anophthalmia, Optic disc coloboma, Iris coloboma, Choa... |
ORPHA:141099 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Dolichocephaly, Plagiocephaly, Brachycephaly, Alobar holoprosencephaly |
OMIM:615433 |
Joubert Syndrome 22 |
|
2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthal... |
OMIM:615665 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Hypoplastic verteb... |
ORPHA:2163 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Brachydactyly, Syndactyly, Coloboma, Iris coloboma, Clinodactyly, Microphthalmia |
OMIM:610023 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Micrognathia, Femoral bowing, Metaphyseal widening, Brachydactyly, Micromelia, Front... |
ORPHA:440354 |
Distal Monosomy 7Q36 |
|
Bulbous nose, Clinodactyly of the 5th finger, Holoprosencephaly, Micrognathia, Symphalangism affe... |
ORPHA:1636 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Hypoplasia of the brainstem |
OMIM:615771 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Adducted thumb, Holoprosencephaly, Micrognathia, Camptodactyly of finger, Hydranencephaly, Intrau... |
ORPHA:2570 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Microphthalmia, Micrognathia, Rocker bottom foot, Intrauterine growth retard... |
OMIM:616570 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Microphthalmia, Occipital encephalocele, Coloboma |
ORPHA:324416 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Macroorchidism |
ORPHA:3077 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal... |
OMIM:300863 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbell-shaped fem... |
ORPHA:56304 |
Monosomy 18P |
|
Holoprosencephaly, Micrognathia, Brachydactyly, Microphthalmia, Brachycephaly, Wide nasal bridge |
ORPHA:1598 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... |
ORPHA:882 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Fragile X Syndrome |
|
Attention deficit hyperactivity disorder, Macroorchidism |
ORPHA:908 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Aplasia of the nose, Ethmocephaly, Cyclopia, Microphthalmia, Midface re... |
OMIM:236100 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Hyperactivity, Macroorchidism |
ORPHA:85327 |
Steinfeld Syndrome |
|
Holoprosencephaly, Retinal coloboma, Aplasia of the nose, Hypoplasia of the radius, Hypoplasia of... |
OMIM:184705 |
Triploidy |
|
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Holoprosencephaly, Micrognathia, Iris colobo... |
ORPHA:3376 |
Lujan-Fryns Syndrome |
|
Attention deficit hyperactivity disorder, Macroorchidism |
ORPHA:776 |
Mental Retardation Syndrome, Belgian Type |
|
Wide nose, Cleft ala nasi, Coloboma |
OMIM:249599 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Talipes equinovarus, Holoprosencephaly, Dolichocephaly, Broad nasal tip, Depressed nasal bridge, ... |
OMIM:612530 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... |
ORPHA:1988 |
Temtamy Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Convex nasal ridge, Dolichocephaly, Micrognathia, Brac... |
ORPHA:1777 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Wide anterior fontanel, Abnormal femoral neck/head morphology, Slender finger, Anterior plagiocep... |
ORPHA:163649 |
Holoprosencephaly 4 |
|
Depressed nasal bridge, Depressed nasal tip, Absent nasal septal cartilage, Semilobar holoprosenc... |
OMIM:142946 |
Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Attention deficit hyperactivity disorder, Macroorchidism |
ORPHA:284180 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Ring Chromosome 21 Syndrome |
|
Small hand, Syndactyly, Clinodactyly, Holoprosencephaly |
ORPHA:1445 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Anophthalmia, 11 pairs of ribs, Iris coloboma, Microphthalmia |
ORPHA:77298 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Depressed nasal ridge, Micrognathia, Metaphyseal cupping of metacarpals, Frontal b... |
ORPHA:163966 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Renal tubular dysfunction, Precocious puberty, Pancreatitis, Elevated ci... |
ORPHA:562 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Adducted thumb, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Short ribs, Short femur, Micrognathia, Flared metaphysis, Adducted th... |
OMIM:616897 |
Polyembryoma |
|
Abdominal mass, Macroorchidism, Isosexual precocious puberty, Abnormality of the peritoneum |
ORPHA:180229 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly, Broad nasal tip, Depressed nasal bridge, Frontal bossing, Underdeveloped nasal... |
ORPHA:250999 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Abnormality of the scrotum, Unilateral cryptorchidis... |
ORPHA:457083 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... |
OMIM:615297 |
Jacobsen Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Clinodactyly of the 5th finger, Holoprosencephaly... |
OMIM:147791 |
49,Xxxxy Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Depressed nasal ridge, Holoprosencephaly, De... |
ORPHA:96264 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Polydactyly, Coloboma |
OMIM:614465 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma |
OMIM:274270 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Micropenis |
ORPHA:75858 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Depressed nasal ridge, Neural tube defect, Abnormal brainstem morphology, Cyclopia... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Depressed nasal ridge, Neural tube defect, Abnormal brainstem morphology, Cyclopia... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Depressed nasal ridge, Neural tube defect, Abnormal brainstem morphology, Cyclopia... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Depressed nasal ridge, Neural tube defect, Abnormal brainstem morphology, Cyclopia... |
ORPHA:220386 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... |
OMIM:619135 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Holoprosencephaly 11 |
|
Holoprosencephaly |
OMIM:614226 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Preaxial foot polydactyly, Convex nasal ridge, Semilobar holopro... |
OMIM:245552 |
Meckel Syndrome 14 |
|
Microretrognathia, Holoprosencephaly, Postaxial polydactyly, Micrognathia, Decreased calvarial os... |
OMIM:619879 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Pes planus, Coloboma |
OMIM:618295 |
Trisomy 18 |
|
Microretrognathia, Holoprosencephaly, Dolichocephaly, Abnormal hip bone morphology, Camptodactyly... |
ORPHA:3380 |
Monosomy 13Q14 |
|
Intrauterine growth retardation, Clinodactyly of the 5th finger, Microphthalmia, Finger syndactyl... |
ORPHA:1587 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Hypoplasia of the pons, Coloboma, Microphthalmia, Hypoplasia of the brainstem |
OMIM:613153 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Holoprosencephaly, Meningocele |
ORPHA:588 |
Pierpont Syndrome |
|
Short toe, Deep plantar creases, Prominent fingertip pads, Broad nasal tip, Short nose, Wide nose... |
OMIM:602342 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Microform Holoprosencephaly |
|
Holoprosencephaly, Narrow nasal bridge, Short nose, Iris coloboma, Choanal atresia, Cyclopia, Ant... |
ORPHA:280200 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Ulnar deviation of the hand, Holoprosencephaly, Postaxial polydactyly, Micrognathi... |
OMIM:612651 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Cyclopia, Mandibular aplasia, Absent nares |
ORPHA:990 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Abruzzo-Erickson Syndrome |
|
Short toe, Brachydactyly, Ulnar deviation of finger, Coloboma, Radioulnar synostosis, Iris colobo... |
ORPHA:921 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, Short femoral neck,... |
OMIM:614701 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Radial club hand, Cyclopia, Holoprosencephaly |
ORPHA:2165 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Combined Saposin Deficiency |
|
Optic atrophy, Hepatomegaly, Splenomegaly |
OMIM:611721 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Coloboma |
OMIM:120433 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, Abnormality of the humerus, Hyp... |
ORPHA:3186 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Joubert Syndrome 14 |
|
Hydrocephalus, Postaxial polydactyly, Coloboma, Microphthalmia, Encephalocele, Prominent nasal br... |
OMIM:614424 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... |
OMIM:607143 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microphthalmia, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
Coach Syndrome 2 |
|
Hydrocephalus, Molar tooth sign on MRI, Chorioretinal coloboma, Coloboma |
OMIM:619111 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... |
OMIM:617394 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Intrauterine growth retardation, Micrognathia, Prominent nose, Microphthalmia |
OMIM:616171 |
Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Depressed nasal ridge, Anophthalmia, Polydactyly, Postaxial hand polydactyly... |
OMIM:613885 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... |
ORPHA:93333 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Pseudotrisomy 13 Syndrome |
|
Hydrocephalus, 2-3 toe syndactyly, Holoprosencephaly, 11 pairs of ribs, Postaxial hand polydactyl... |
OMIM:264480 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Depressed nasal bridge, Micrognathia, Syndactyly, Prominent occiput, Coloboma, Mis... |
OMIM:220210 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Short toe, 2-3 toe syndactyly, Low hanging columella, Micrognathia, Cone-shaped epiphysis, Brachy... |
OMIM:618659 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Craniosynostosis, Arrhinencephaly, Frontal bossing, Septo-optic dysplasia, Microph... |
ORPHA:1528 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Abnormal calvaria morphology, Microphthalmia |
ORPHA:2432 |
Bartsocas-Papas Syndrome 2 |
|
Wide anterior fontanel, 2-5 finger cutaneous syndactyly, Small hand, Micrognathia, Prominent occi... |
OMIM:619339 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Pallister-Hall Syndrome |
|
Distal shortening of limbs, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Holoprosencep... |
OMIM:146510 |
Non-Functioning Pituitary Adenoma |
|
Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ... |
ORPHA:91349 |
16P13.11 Microdeletion Syndrome |
|
Talipes equinovarus, Holoprosencephaly, Depressed nasal bridge, Camptodactyly of finger, Metatars... |
ORPHA:261236 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Holoprosencephaly |
|
Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Absent nares, Microphthalmia, Encephal... |
ORPHA:2162 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Frontal bossing, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bone... |
ORPHA:93267 |
Microphthalmia With Limb Anomalies |
|
Flared nostrils, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Depressed nasal bridge, C... |
OMIM:206920 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Functioning Gonadotropic Adenoma |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... |
ORPHA:91348 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, Calf muscle pseudohypertrophy, Abn... |
ORPHA:370959 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
Abruzzo-Erickson Syndrome |
|
Radioulnar synostosis, Coloboma |
OMIM:302905 |
Cofs Syndrome |
|
Abnormal nasal morphology, Micrognathia, Camptodactyly of finger, Talipes, Microphthalmia, Intrau... |
ORPHA:1466 |
Isolated Exencephaly |
|
Depressed nasal bridge, Abnormal calvaria morphology, Hypoplasia of the frontal bone, Holoprosenc... |
ORPHA:563612 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Coloboma |
OMIM:300915 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Treacher Collins Syndrome 2 |
|
Coloboma, Micrognathia, Choanal atresia, Choanal stenosis |
OMIM:613717 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Bulbous nose, Clinodactyly of the 5th finger, Holoprosencephaly, Dolichocephaly,... |
OMIM:613884 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Stevenson-Carey Syndrome |
|
Prominent nasal tip, Coloboma, Camptodactyly, Microphthalmia, Anteverted nares, Brachycephaly, Hi... |
OMIM:611961 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... |
ORPHA:90790 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Atten... |
ORPHA:90674 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Bulbous nose, Plagiocephaly, Talipes equinovarus, Depressed nasal bridge, Coloboma, Frontal bossi... |
OMIM:616789 |
Cat-Eye Syndrome |
|
Hip dysplasia, Iris coloboma, Microphthalmia, Intrauterine growth retardation, Chorioretinal colo... |
ORPHA:195 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral microphthalmos, Bilateral microphthalmos, Low hanging columella, Coloboma |
OMIM:619318 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Dolichocephaly, Depressed nasal bridge, Coloboma, Microphthalmia,... |
OMIM:167730 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... |
ORPHA:52901 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Depressed nasal bridge, Femoral b... |
OMIM:211350 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Hydrocephalus, Short toe, Holoprosencephaly, Short ribs, Bowing of the arm, A... |
OMIM:269860 |
Bresek Syndrome |
|
Hydrocephalus, Plagiocephaly, Convex nasal ridge, Optic nerve hypoplasia, Postaxial hand polydact... |
ORPHA:85284 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:616719 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
Faciothoracogenital Syndrome |
|
Anteverted nares, Micrognathia, Microphthalmia |
OMIM:227320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Abnormally large globe, Coloboma, Microphthalmia, Hypoplasia of the brainstem |
OMIM:615249 |
Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Pes planus, Short finger, Microphthalmia, Brachycephaly, Wid... |
ORPHA:487825 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Atelosteogenesis Type I |
|
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... |
ORPHA:1190 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Absent proximal finger flexion creases, Talipes equinovarus, Micrognathia, Aplasia... |
ORPHA:2839 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites |
ORPHA:1046 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Wide nose, Mandibular aplasia, Holoprosencephaly |
OMIM:202650 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... |
OMIM:214900 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Brachycephaly, Microphthalmia |
ORPHA:2528 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... |
OMIM:615559 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Moebius Syndrome |
|
Talipes equinovarus, Depressed nasal bridge, Micrognathia, Brachydactyly, Short phalanx of finger... |
OMIM:157900 |
Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Hydrocephalus, Microphthalmia, Anencephaly, Postaxial hand polyd... |
OMIM:611134 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Calvarial skull defect, Coronal craniosynostosis, Depressed nasal bridge, Bifid nose, Frontal bos... |
ORPHA:228390 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Hepatomegaly, Splenomegaly |
OMIM:608540 |
Curry-Jones Syndrome |
|
Craniosynostosis, Syndactyly, Duplication of thumb phalanx, Cutaneous syndactyly of toes, Colobom... |
OMIM:601707 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Macroorchidism |
ORPHA:324410 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Trisomy 20P |
|
Hypospadias, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis, Cryptorchidism, Mac... |
ORPHA:261318 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Trigonocephaly, Coloboma |
OMIM:614583 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Syndactyly, Polydactyly, Microphthalmia |
OMIM:602501 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of cartilage of external ear, Dolichocephaly, Depress... |
ORPHA:2399 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Frontal bossing, Micrognathia, Microphthalmia, Coloboma |
OMIM:617306 |
Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Microphthalmia |
ORPHA:3434 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hepatomegaly |
OMIM:615924 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Verheij Syndrome |
|
Short 5th finger, Coloboma, Short nose, Clinodactyly, Hip dislocation, Wide nasal bridge |
OMIM:615583 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hydrocephalus, Holoprosencephaly, Micrognathia, Postaxial hand polydactyly, Cyclopia, Talipes, Um... |
ORPHA:2166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia |
OMIM:614830 |
Paget Disease Of Bone 2, Early-Onset |
|
Short femur, Femoral bowing, Fractures of the long bones, Bowing of the long bones, Brain stem co... |
OMIM:602080 |
Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Micrognathia, Anophthalmia, Microphthalmia, Wide nasal bridge |
OMIM:615524 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Abnormality of toe, Small hand, Depressed nasal bridge, Brachydactyly, Coloboma... |
ORPHA:94065 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Microphthalmia |
OMIM:610092 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Micromelia, Microphthalmia |
ORPHA:291 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Hypoplasia of the brainstem, Hydrocephalus, Dolichocephal... |
OMIM:608091 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hydrocephalus, Holoprosencephaly, Calf muscle hypertrophy, Microphthalmia, Encephalocele, Hypopla... |
OMIM:253800 |
2Q31.1 Microdeletion Syndrome |
|
Bulbous nose, Optic disc coloboma, Tapered finger, Abnormality of fibula morphology, Sandal gap, ... |
ORPHA:251014 |
Acro-Renal-Ocular Syndrome |
|
Radial club hand, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Microphthalmia, Short ... |
ORPHA:959 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Macroorchidism |
OMIM:309520 |
Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Dimple on nasal tip, Depressed nasal bridge, Bifid nasal tip, Short nose, ... |
ORPHA:1791 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis, Optic nerve hypoplasia, Arrhinencephaly, Microphthalmia, Frontal encephalocele |
OMIM:218670 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Spondyloepiphyseal Dysplasia Congenita |
|
Dysplasia of the femoral head, Short femur, Micrognathia, Aplasia/hypoplasia involving bones of t... |
ORPHA:94068 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Micrognathia, Prominent nose, Anophthalmia, Microphthalmia |
OMIM:221950 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hip dislocation, Pes planus, Genu recurvatum, Bilateral microphthalmos |
OMIM:608763 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Aromatase Deficiency |
|
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... |
ORPHA:91 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Talipes equinovarus, Holoprosencephaly, Abnormal occipital bone ... |
ORPHA:63259 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Depressed nasal ridge, Short fourth metatarsal, Brachydactyly, Coloboma, Anteverted nares, Patell... |
ORPHA:464288 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Otodental Dysplasia |
|
Anteverted nares, Coloboma |
OMIM:166750 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Pelvis-Shoulder Dysplasia |
|
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Sp... |
OMIM:169550 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, Microphthalmia, Hypoplasia of the ... |
OMIM:615181 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Intrauterine growth retardation, Microretrognathia, Craniosynostosis, Abnormal occipital bone mor... |
ORPHA:468631 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:212550 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly |
OMIM:613490 |
Smith-Lemli-Opitz Syndrome |
|
Ulnar deviation of finger, Rhizomelia, Intrauterine growth retardation, Micrognathia, Aplasia/Hyp... |
ORPHA:818 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Depressed nasal bridge, Brachycephaly, Microphthalmia, Coloboma |
OMIM:612379 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor... |
OMIM:611490 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice |
ORPHA:75234 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Pontocerebellar Hypoplasia, Type 11 |
|
Bulbous nose, Talipes equinovarus, Coloboma |
OMIM:617695 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Microphthalmia |
OMIM:164180 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Coloboma |
OMIM:248390 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Depressed nasal ridge, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Brachyturric... |
OMIM:607597 |
Curry-Jones Syndrome |
|
Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand polydactyly, Optic disc coloboma, I... |
ORPHA:1553 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Macroorchidism |
OMIM:618874 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Prostate cancer, Hepatosp... |
ORPHA:158057 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Asplenia, Pancreatic fibrosis, Hyperechogenic pancreas, Ma... |
OMIM:208540 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... |
OMIM:235200 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... |
OMIM:618892 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Talipes equinovarus, Hypoplasia of the brainstem |
OMIM:617255 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... |
OMIM:613812 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... |
ORPHA:400 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Hydrocephalus, Microphthalmia |
OMIM:601794 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Coloboma |
OMIM:602499 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Holoprosencephaly, Prominent occiput, Aplasia/Hypoplasia of the phalanges of the thumb, Semilobar... |
ORPHA:556955 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Tibial bowing, Clinodactyly of the 5th finger, Convex nasal ridge, Slender finger, Talipes equino... |
ORPHA:251028 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Micrognathia, Down-sloping shoulders, Camptodactyly, Wide nose, Knee flexion contracture, Microph... |
OMIM:619694 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Hartsfield Syndrome |
|
Ectrodactyly, Craniosynostosis, Syndactyly, Wide nose, Hypoplasia of the frontal bone, Lobar holo... |
OMIM:615465 |
Cree Mental Retardation Syndrome |
|
Micrognathia, Coloboma, Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cutaneous finger synd... |
OMIM:606851 |
Ring Chromosome 7 Syndrome |
|
Severe intrauterine growth retardation, Plagiocephaly, Clinodactyly of the 5th finger, 3-4 toe sy... |
ORPHA:1449 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Marden-Walker Syndrome |
|
Wide anterior fontanel, Talipes equinovarus, Arachnodactyly, Micrognathia, Radioulnar synostosis,... |
OMIM:248700 |
Cousin Syndrome |
|
Dislocated radial head, Hydrocephalus, Clinodactyly of the 5th finger, Microphthalmia, Talipes eq... |
OMIM:260660 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Convex nasal ridge, Talipes equinovarus, Craniosynostosis, Micrognathia, Sho... |
OMIM:251230 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Prominent nasal bridge, Coloboma |
OMIM:618652 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Micrognathia, Microphthalmia, Anteverted nares, Wide nasal bridge |
OMIM:600118 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... |
OMIM:610333 |
Frontonasal Dysplasia 2 |
|
Calvarial skull defect, Depressed nasal ridge, Craniosynostosis, Parietal foramina, Depressed nas... |
OMIM:613451 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... |
ORPHA:848 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Charge Syndrome |
|
Clinodactyly of the 5th finger, Aqueductal stenosis, Holoprosencephaly, Depressed nasal bridge, A... |
ORPHA:138 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Renal insufficiency, T... |
ORPHA:108 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose, Microphthalmia, T... |
OMIM:609945 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
Cataract 9, Multiple Types |
|
Iris coloboma, Microphthalmia |
OMIM:604219 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Femoral bowing, 11 pairs of ribs, Micromelia, Long foot, Intrauterine growth retardation, Absent ... |
OMIM:210710 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Cryptorchidism, Hyperactivity, Micropenis |
OMIM:618504 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Holoprosencephaly, Retinal coloboma, Short ribs, Occipital encephalocele, Post... |
OMIM:615948 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Holoprosencephaly 9 |
|
Hydrocephalus, Holoprosencephaly, Depressed nasal bridge, Optic nerve hypoplasia, Anophthalmia, P... |
OMIM:610829 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Heart And Brain Malformation Syndrome |
|
Wide anterior fontanel, Depressed nasal bridge, Camptodactyly of finger, Prominent occiput, Micro... |
OMIM:616920 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatomegaly, Retinal degeneration, Nephronophthisis, Splenomegaly, Hepat... |
OMIM:615630 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Intrauterine growth retardation, Microphthalmia |
ORPHA:858 |
Frontofacionasal Dysplasia |
|
Bifid nose, Short nose, Cranium bifidum occultum, Iris coloboma, Hypoplasia of the frontal bone, ... |
OMIM:229400 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Joubert Syndrome 23 |
|
Polydactyly, Coloboma |
OMIM:616490 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia, Microp... |
ORPHA:1135 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Microphthalmia, Metaphyseal widening, Frontal bossing, Abn... |
ORPHA:2788 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Baraitser-Winter Syndrome 1 |
|
Midface retrusion, Short nose, Iris coloboma, Microphthalmia, Anteverted nares, Duplication of ph... |
OMIM:243310 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, Frontal bossing, Wide nose, Microphthalmia, Anteverted nares, Molar tooth ... |
OMIM:619185 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Depressed nasal bridge, True anophthalmia, Sandal gap, Bowing of the long bones, M... |
ORPHA:1106 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Mosaic Variegated Aneuploidy Syndrome |
|
Clinodactyly of the 5th finger, Depressed nasal ridge, Holoprosencephaly, Micrognathia, Frontal b... |
ORPHA:1052 |
Ring Chromosome 10 Syndrome |
|
Micrognathia, Tapered finger, Frontal bossing, Sandal gap, Microphthalmia, Intrauterine growth re... |
ORPHA:1438 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Frontal... |
ORPHA:2547 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Renal insufficiency, Neutropenia, Anemia... |
ORPHA:79312 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Xk Aprosencephaly Syndrome |
|
Abnormality of the nares, Abnormal morphology of the radius, Microphthalmia |
ORPHA:3469 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bulbous nose, Clinodactyly of the 5th finger, Slender finger, Coloboma, Pes planus, Broad thumb, ... |
ORPHA:329224 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Umbilical hernia, 3-4 finger syndactyly, 1-2 toe syndactyly, Chorioretinal colobom... |
OMIM:107480 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin... |
OMIM:614866 |
Meckel Syndrome, Type 2 |
|
Anencephaly, Polydactyly, Postaxial hand polydactyly, Meningocele, Bowing of the long bones, Micr... |
OMIM:603194 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Coxa valga, Micrognathia, Deep longitudinal plantar crease, Camptodactyly, Promin... |
OMIM:214150 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... |
OMIM:194380 |
Coach Syndrome 1 |
|
Occipital encephalocele, Coloboma, Postaxial hand polydactyly, Anteverted nares, Encephalocele, M... |
OMIM:216360 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Meckel Syndrome |
|
Hydrocephalus, Depressed nasal ridge, Micrognathia, Anencephaly, Anophthalmia, Postaxial hand pol... |
ORPHA:564 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Iris coloboma, Microphthalmia, Chorioretinal coloboma |
ORPHA:1473 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Microphthalmia, Short... |
OMIM:607323 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Posterior plagiocephaly, Brachycephaly, Genu valgum, Short femur |
OMIM:617798 |
Xeroderma Pigmentosum, Complementation Group G |
|
Pes cavus, Microphthalmia |
OMIM:278780 |
Hydrolethalus |
|
Hydrocephalus, Abnormality of the sense of smell, Micrognathia, Anencephaly, Arrhinencephaly, Ano... |
ORPHA:2189 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Convex nasal ridge, Microphthalmia, Micrognathia, Camptodactyly of finger, Rocker bottom foot, La... |
OMIM:610756 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia |
OMIM:300635 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Bulbous nose, Talipes equinovarus, Clinodactyly of the 5th finger, Broad hallux ph... |
ORPHA:250989 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Martsolf Syndrome 1 |
|
Short toe, Talipes equinovarus, Short metacarpal, Slender ulna, Finger joint hypermobility, Broad... |
OMIM:212720 |
Autosomal Dominant Keratitis |
|
Hypoplastic iris stroma, Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Macular hyp... |
ORPHA:2334 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:613101 |
3P25.3 Microdeletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Depressed nasal bridge, 2-3 finger syndactyly, Micrognath... |
ORPHA:435638 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Short nose, Umbilical hernia, Microphthalmia, Scaphocephaly, Polydactyly a... |
ORPHA:672 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Intrauterine growth retardation, Small hand, Contracture of the proximal interphalangeal joint of... |
OMIM:301044 |
Arachnoid Cyst |
|
Abnormal occipital bone morphology, Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Cardiomegaly |
OMIM:252920 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Micromelia, Hammertoe, Hip subluxation, Intrauterine growt... |
OMIM:270400 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Dislocated radial head, Adducted thumb, Micrognathia, Flared metaphysis, Camptodactyly of finger,... |
OMIM:610758 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Bulbous nose, Micrognathia, Microphthalmia |
OMIM:614219 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Rere-Related Neurodevelopmental Syndrome |
|
Micrognathia, Hip dysplasia, Frontal bossing, Iris coloboma, Choanal atresia, Microphthalmia, Ant... |
ORPHA:494344 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613489 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Aminoaciduria, Splenomegaly |
ORPHA:664 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Meckel Syndrome, Type 5 |
|
Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Bowing of the long bones, Mi... |
OMIM:611561 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Micrognathia, Camptodactyly of finger, Intrauterine growth retardation, Microphthalmia |
ORPHA:48431 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... |
OMIM:607765 |
Oculofaciocardiodental Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Flexion contracture of the 2nd toe, Flexion c... |
ORPHA:2712 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Broad hallux, Microphthalmia, Clinodactyly of the 5th finger, Micrognathia, Duplic... |
ORPHA:508498 |
Fanconi Anemia, Complementation Group J |
|
Intrauterine growth retardation, Short thumb, Microphthalmia |
OMIM:609054 |
Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Absent hand, Hydrocephalus, Calvarial skull defect, Brachydactyly... |
ORPHA:974 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Halperin-Birk Syndrome |
|
Talipes equinovarus, Micrognathia, Umbilical hernia, Semilobar holoprosencephaly, Hip dislocation... |
OMIM:618651 |
Charge Syndrome |
|
Down-sloping shoulders, Hypoplasia of the ulna, Umbilical hernia, Microphthalmia, Bilateral talip... |
OMIM:214800 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Bulbous nose, Depressed nasal bridge, Frontal bossing, Short nose, Microphthalmia |
OMIM:614105 |
Acrocallosal Syndrome |
|
Wide anterior fontanel, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Pre... |
OMIM:200990 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Facial Clefting, Oblique, 1 |
|
Talipes calcaneovalgus, Coloboma |
OMIM:600251 |
Sandestig-Stefanova Syndrome |
|
Trigonocephaly, Convex nasal ridge, Rocker bottom foot, Camptodactyly, Clinodactyly, Microphthalm... |
OMIM:618804 |
Trisomy 13 |
|
Ectrodactyly, Calvarial skull defect, Anophthalmia, Postaxial hand polydactyly, Iris coloboma, Mi... |
ORPHA:3378 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Srd5A3-Cdg |
|
Palmoplantar keratoderma, Optic disc hypoplasia, Coloboma |
ORPHA:324737 |
Subaortic Stenosis--Short Stature Syndrome |
|
Short toe, Small hand, Broad finger, Short phalanx of finger, Short nose, Short foot, Microphthal... |
OMIM:271960 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... |
OMIM:613673 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Postaxial polydactyly, Depressed nasal bridge, Abnormal nasal morphology, Mic... |
ORPHA:404440 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Mend Syndrome |
|
Overlapping toe, Wide anterior fontanel, Hydrocephalus, Microphthalmia, 2-3 toe syndactyly, Hand ... |
ORPHA:401973 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Wide anterior fontanel, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Depresse... |
OMIM:617925 |
Carney Complex |
|
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... |
ORPHA:1359 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Kapur-Toriello Syndrome |
|
Bulbous nose, Clinodactyly of the 5th toe, Low hanging columella, Retinal coloboma, Camptodactyly... |
OMIM:244300 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Proteus Syndrome |
|
Lymphangioma, Abnormality of retinal pigmentation, Ovarian neoplasm, Splenomegaly, Neoplasm of th... |
ORPHA:744 |
Holoprosencephaly 13, X-Linked |
|
Alobar holoprosencephaly, Aplasia of the nose, Optic nerve hypoplasia, Micrognathia, Cyclopia, Se... |
OMIM:301043 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Mucopolysaccharidosis, Type Iiia |
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Hyperactivity, Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly |
OMIM:252900 |
Gaucher Disease, Type Iii |
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Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia |
OMIM:231000 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Hepatomegaly, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, Intrahepatic cholesta... |
OMIM:235555 |
Neuraminidase Deficiency |
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Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... |
OMIM:256550 |
Oculod |