| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Placental Insufficiency |
|
Maternal hypertension, Proportionate short stature, Preeclampsia, Eclampsia, Intrauterine growth ... |
ORPHA:439167 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Microphthalmia, Intrauterine growth retardation, Talipes equinovarus |
OMIM:616570 |
| Acute Zonal Occult Outer Retinopathy |
|
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... |
ORPHA:284454 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Cryptorchidism, Microphallus, Abnormality of the scrotum, Bifid scrotum, Oligohydramnios, Postnat... |
ORPHA:397590 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Postnatal growth retardation, Severe intrauterine growth retardation, Short stature, Small placen... |
ORPHA:73272 |
| Cherubism |
|
Marcus Gunn pupil, Macular scar, Optic neuropathy |
OMIM:118400 |
| Meckel Syndrome, Type 8 |
|
Postaxial hand polydactyly, Polydactyly, Microphthalmia, Anophthalmia, Talipes equinovarus |
OMIM:613885 |
| Microphthalmia, Isolated 3 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Microphthalmia, Anophthalmia |
OMIM:221950 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... |
OMIM:603554 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Postnatal growth retardation, Large placenta, Polyhydramnios, Umbilical hernia |
ORPHA:254534 |
| Microphthalmia With Limb Anomalies |
|
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Growth delay, Foo... |
OMIM:206920 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
| Trisomy 13 |
|
Postaxial hand polydactyly, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Anop... |
ORPHA:3378 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
| Fetal Akinesia Deformation Sequence 1 |
|
Polyhydramnios, Cryptorchidism, Short umbilical cord, Stillbirth, Fetal akinesia sequence, Premat... |
OMIM:208150 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Anophthalmia, Deviation of finger |
ORPHA:1104 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Patent ductus arteriosus, Neutrop... |
OMIM:612541 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Hydrolethalus |
|
Polyhydramnios, Postaxial hand polydactyly, Microphthalmia, Anophthalmia, Micromelia |
ORPHA:2189 |
| Trisomy 1Q |
|
Polyhydramnios, Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Hydrops fetal... |
ORPHA:261344 |
| Fibular Hemimelia |
|
Bowing of the legs, Anophthalmia, Abnormality of fibula morphology, Proximal femoral focal defici... |
ORPHA:93323 |
| Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Cryptorchidism, Bifid uterus, Spina bifida, Short umbilical cord, Stillbirth, Dec... |
OMIM:256520 |
| Gastrointestinal Defects And Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the thymus |
OMIM:243150 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Mirage Syndrome |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Lymphopenia, Patent ductus arteriosus, Thrombocyt... |
OMIM:617053 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Large placenta, Postnatal growth retardation, Umbilical hernia, Intrauterine grow... |
ORPHA:254528 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Postaxial foot polydactyly, Microphthalmia, Anophthalmia, Proximal placement o... |
ORPHA:139471 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, Microphthalmia, Anophthalmia |
OMIM:615877 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Short stature, Anophthalmia |
OMIM:147250 |
| Hypoglossia With Situs Inversus |
|
Polysplenia, Asplenia |
OMIM:612776 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia |
ORPHA:563609 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Microphthalmia, Short stature, Anophthalmia |
OMIM:610125 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus |
OMIM:602450 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Restrictive Dermopathy |
|
Polyhydramnios, Short umbilical cord, Large placenta, Decreased fetal movement, Premature birth, ... |
ORPHA:1662 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Microphthalmia, Anophthalmia |
ORPHA:77298 |
| Vacterl With Hydrocephalus |
|
Polyhydramnios, Hypoplasia of the radius, Spina bifida, Microphthalmia, Anophthalmia, Intrauterin... |
ORPHA:3412 |
| Mosaic Trisomy 16 |
|
Maternal diabetes, Preeclampsia, Large placenta, Single umbilical artery, Premature birth, Intrau... |
ORPHA:1708 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Jaundice, Hepatomegaly |
OMIM:214110 |
| Microphthalmia, Syndromic 3 |
|
Postnatal growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature, Anophthalmia |
OMIM:206900 |
| Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Hypoplastic spleen, Patent ductus arteriosus |
OMIM:601186 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficien... |
OMIM:269200 |
| Lymphatic Malformation 7 |
|
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema |
OMIM:617300 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema |
OMIM:618773 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Kagami-Ogata Syndrome |
|
Polyhydramnios, Large placenta, Premature birth, Postnatal growth retardation |
ORPHA:254519 |
| Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Short stature, Intra... |
OMIM:222470 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hypoparathyroidism, Reticulocytosis, Hypothyroidism, Hepatic s... |
ORPHA:699 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Mild postnatal grow... |
OMIM:265300 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly |
OMIM:242700 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Syndromic Diarrhea |
|
Cirrhosis, Thrombocytosis, Hypothyroidism, Lymphopenia, Patent ductus arteriosus, Increased mean ... |
ORPHA:84064 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Microphthalmia, Metatarsus valgus |
ORPHA:899 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Aniridia, Anophthalmia, Umbilical hernia, Ulnar deviation of finger, Tal... |
ORPHA:1101 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic fibrosis, Asplenia, Hepatomegaly, Cholestasis |
OMIM:615415 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cirrhosis, Pancreatic cysts, Polysplenia, Hepatic cysts, Patent ductus arteriosus, Biliary cirrho... |
OMIM:208540 |
| Ataxia-Telangiectasia |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Female hypog... |
OMIM:208900 |
| Restrictive Dermopathy, Lethal |
|
Polyhydramnios, Short umbilical cord, Premature rupture of membranes, Stillbirth, Decreased fetal... |
OMIM:275210 |
| Meckel Syndrome, Type 1 |
|
Cryptorchidism, Abnormality of the uterus, Ambiguous genitalia, male, Oligohydramnios, Large plac... |
OMIM:249000 |
| 14Q22Q23 Microdeletion Syndrome |
|
Short 4th metacarpal, Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Anophthalmia, Shor... |
ORPHA:264200 |
| Stormorken Syndrome |
|
Thrombocytopenia, Asplenia, Howell-Jolly bodies, Anemia |
OMIM:185070 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Decreased circulating parathyroid hormone level, Male hypogonadism, Chronic active hepatitis, Pri... |
OMIM:240300 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Graves disease, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hyp... |
ORPHA:227982 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Lymphedema, Pleural effusion, Anophthalmia, Severe short stature, Edema, Microphthalmia, Chylothorax |
ORPHA:2526 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Bilia... |
ORPHA:227990 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Oligodactyly, Absent hand, Abnormality of finger, Growth delay, Abnormality of the radius, Abnorm... |
ORPHA:2538 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Hypoplasia of the thymus,... |
ORPHA:436252 |
| Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Anophthalmia |
ORPHA:90321 |
| Meckel Syndrome |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Oligohydramnios, Bowing of the long bones,... |
ORPHA:564 |
| Microphthalmia With Limb Anomalies |
|
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Postaxial hand p... |
ORPHA:1106 |
| Holoprosencephaly |
|
Hand polydactyly, Branchial anomaly, Spinal dysraphism, Microphthalmia, Anophthalmia, Brachydactyly |
ORPHA:2162 |
| Microgastria-Limb Reduction Defects Association |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Hand oligodactyly, Anophthalmia, Absent thumb |
OMIM:156810 |
| Lymphatic Malformation 6 |
|
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites, Short stature, Chylot... |
OMIM:616843 |
| Charge Syndrome |
|
Polyhydramnios, Abnormality of tibia morphology, Postnatal growth retardation, Delayed puberty, M... |
ORPHA:138 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... |
OMIM:102700 |
| Hemifacial Microsomia |
|
Microphthalmia, Branchial anomaly, Anophthalmia |
OMIM:164210 |
| Treacher-Collins Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hypoplasia of the thymus, Thyroid hypoplasia, Abnormali... |
ORPHA:861 |
| Focal Dermal Hypoplasia |
|
Aniridia, Postaxial hand polydactyly, Short metatarsal, Short phalanx of finger, Toe syndactyly, ... |
OMIM:305600 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
OMIM:605627 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... |
ORPHA:906 |
| Holoprosencephaly 9 |
|
Postaxial hand polydactyly, Optic nerve hypoplasia, Microphthalmia, Short stature, Anophthalmia |
OMIM:610829 |
| Eec Syndrome |
|
Hypoplasia of the thymus, Anterior hypopituitarism, Decreased response to growth hormone stimuati... |
ORPHA:1896 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Cryptorchidism, Growth delay, Spinal dysraphism, Large placenta, Postnatal growth... |
ORPHA:96334 |
| 22Q11.2 Deletion Syndrome |
|
Cryptorchidism, Hypothyroidism, Patent ductus arteriosus, Cholelithiasis, Thrombocytopenia, Hypop... |
ORPHA:567 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
| Microphthalmia, Syndromic 2 |
|
Radioulnar synostosis, 2-3 toe syndactyly, Umbilical hernia, Sandal gap, 2-3 toe cutaneous syndac... |
OMIM:300166 |
| Beckwith-Wiedemann Syndrome |
|
Polyhydramnios, Cryptorchidism, Gonadoblastoma, Large placenta, Umbilical hernia, Subchorionic se... |
ORPHA:116 |
| Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas |
ORPHA:210122 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries |
ORPHA:2969 |
| Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Asplenia, Abdominal situs inversus |
OMIM:619123 |
| Sweeney-Cox Syndrome |
|
Asplenia, Bilateral cryptorchidism |
OMIM:617746 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Growth delay, Microphthalmia, Severe short stature, Anophthalmia |
ORPHA:2556 |
| Fraser Syndrome 1 |
|
Bilateral microphthalmos, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the thumb, Aplasia/H... |
OMIM:219000 |
| Feingold Syndrome 1 |
|
Accessory spleen, Polysplenia, Patent ductus arteriosus, Asplenia, Annular pancreas |
OMIM:164280 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
| Right Atrial Isomerism |
|
Polysplenia, Asplenia, Abdominal situs ambiguus |
OMIM:208530 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Umbilical hernia, Microphthalmia, Anophthalmia, Myelomeningocele |
ORPHA:2052 |
| Charge Syndrome |
|
Hand polydactyly, Hypoplasia of the ulna, Postnatal growth retardation, Umbilical hernia, Delayed... |
OMIM:214800 |
| Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Cryptorchidism, Asplenia, Patent ductus arteriosus |
ORPHA:99776 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Polysplenia, Abdominal situs inversus, Patent ductus arteriosus, Biliary atresia, Asplenia |
OMIM:306955 |
| Primary Ciliary Dyskinesia |
|
Polysplenia, Asplenia |
ORPHA:244 |
| Branchiooculofacial Syndrome |
|
Preaxial hand polydactyly, Branchial anomaly, Postnatal growth retardation, Microphthalmia, Short... |
OMIM:113620 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Adrenocortical abnormality, Patent ductus arteriosus |
ORPHA:3384 |
| Microphthalmia, Syndromic 6 |
|
Flexion contracture of thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndactyly, Polyd... |
OMIM:607932 |
| Monosomy 22 |
|
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly |
ORPHA:96123 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Microphthalmia, Syndromic 1 |
|
Camptodactyly, Growth delay, Radial deviation of finger, Clinodactyly, Syndactyly, Microphthalmia... |
OMIM:309800 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis |
OMIM:273395 |
| Pseudoaminopterin Syndrome |
|
Cryptorchidism, Asplenia |
ORPHA:221120 |
| Proteus Syndrome |
|
Ovarian neoplasm, Thymus hyperplasia, Macroorchidism, Neoplasm of the thymus, Splenomegaly, Testi... |
ORPHA:744 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Patent ductus arteriosus, Pulmonary lymphangiectasia, Annular pancreas |
OMIM:265380 |
| Mowat-Wilson Syndrome |
|
Cryptorchidism, Hydrocele testis, Asplenia, Patent ductus arteriosus |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cryptorchidism, Hydrocele testis, Asplenia, Patent ductus arteriosus |
ORPHA:261552 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cryptorchidism, Hydrocele testis, Asplenia |
ORPHA:261537 |
