| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Orbital cyst |
OMIM:251505 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure, Iris cyst, Ptosis |
OMIM:620086 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
| Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... |
ORPHA:276580 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... |
ORPHA:276575 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... |
ORPHA:755 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314811 |
| Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Cataract, Upslanted palpebral fissure, Microcornea, Microphthalmia |
ORPHA:2528 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Miscarriage, Female infertility |
OMIM:619176 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis |
OMIM:300915 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Ankyloblepharon, Sclerocornea |
OMIM:611038 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cataract, Intrauterine growth retardation |
ORPHA:291 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co... |
ORPHA:1473 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Nanophthalmos |
|
Microphthalmia, Abnormal choroid morphology |
ORPHA:35612 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Vanishing te... |
ORPHA:325124 |
| Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Lipodystrophy, Pancreatitis |
OMIM:246650 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... |
ORPHA:363400 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Abnormal te... |
ORPHA:791 |
| Cat-Eye Syndrome |
|
Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Intrauteri... |
ORPHA:195 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Sag... |
OMIM:610199 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Downslanted palpebral fissures, Abnormality iris morphology |
ORPHA:1617 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
| Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Abnormal pancrea... |
ORPHA:2849 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
| Wolfram-Like Syndrome |
|
Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo... |
ORPHA:411590 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla... |
OMIM:620099 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... |
ORPHA:263455 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... |
ORPHA:293964 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Microphthalmia |
ORPHA:363741 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Wide anterior fontanel, Epiphyseal stippling |
OMIM:614859 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:232700 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:231736 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fib... |
OMIM:246200 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly |
OMIM:613977 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn... |
ORPHA:85184 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:446 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Congenital ptosis, Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los... |
ORPHA:528 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... |
OMIM:610202 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... |
ORPHA:1791 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
| Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Anemia, Micr... |
ORPHA:858 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Micrognathia, Abnormality of the humerus, Wide anterior fontanel, Preaxial hand po... |
ORPHA:3098 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:79086 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
| Microphthalmia, Syndromic 8 |
|
Blepharophimosis, Microphthalmia, Microcornea, Short palpebral fissure |
OMIM:601349 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Rickets of the lower limbs, Hepatocellular carcinoma |
ORPHA:882 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
| Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Wide anterior fontanel, Jaundice, Epiphyseal stippling, High palate |
OMIM:614872 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract, Hypogonadism, Cryptorchidism |
OMIM:601794 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Cryptorchidism, Bicornuate uterus, Neonatal death, Microphthalmia |
OMIM:615524 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Cataract, Death in infancy |
OMIM:613730 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Growth delay, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
| Cofs Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Cataract, Death in infancy |
ORPHA:1466 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Microphthalmia, Cataract, Intrauterine growth retardation |
OMIM:616171 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decr... |
ORPHA:453533 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly |
ORPHA:79237 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality... |
ORPHA:848 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia... |
OMIM:609049 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Carious te... |
OMIM:277440 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Wide... |
OMIM:269300 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Upslanted palpebral fissure, Astigmatism, Long palpebral fissure, Microphthalmia, Spars... |
OMIM:619694 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Narrow palpebral fissure, Microphthalmia, Ocular anterior segment dysg... |
OMIM:615145 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
| Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia |
OMIM:109130 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Micrognathia, Coxa valga, Wide anterior fontanel, Cleft palate, F... |
ORPHA:163649 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia |
OMIM:615935 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Microcornea, Long eyelashes, Microphthalmia, Intrauterine growth retardation |
ORPHA:48431 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
| Temtamy Syndrome |
|
Microphthalmia, Telecanthus, Iris coloboma, Chorioretinal coloboma |
ORPHA:1777 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Genu v... |
ORPHA:93160 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axi... |
OMIM:619339 |
| Rhizomelic Syndrome |
|
Bifid distal phalanx of the thumb, Micrognathia, Wide anterior fontanel, Hip dislocation, Complet... |
OMIM:268250 |
| Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:212550 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic ast... |
OMIM:152950 |
| Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract |
ORPHA:324416 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... |
OMIM:201400 |
| Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Jaundice, Rickets |
OMIM:619232 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... |
ORPHA:300373 |
| Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
| Diarrhea 13 |
|
Recurrent hypoglycemia, Hepatic steatosis |
OMIM:620357 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice... |
OMIM:211600 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607748 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Hiatus hernia, Joint stiffness, Micrognathia, Coxa valga, Avascular nec... |
ORPHA:1901 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea |
OMIM:251750 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino... |
OMIM:618805 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Developmental cataract, Death in childhood, Microphthalmia, Intrauterine growth retarda... |
OMIM:610756 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Uveitis, Buphthalmos, Microcornea, Shallow... |
OMIM:221900 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hypogonadism, He... |
OMIM:613313 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Micrognathia, Wide anterior fontanel, Metaphyseal widening, Flexion contracture, Retrognathia, Pe... |
OMIM:263210 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodys... |
OMIM:608594 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... |
OMIM:606069 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Carious teeth, Rickets, Increased susceptibility to fractures,... |
OMIM:146300 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia |
ORPHA:35 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Wide anterior fontanel, Ulnar bowing, Poorl... |
OMIM:619135 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
| Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
| Atelosteogenesis Type I |
|
Short femur, Micrognathia, Malrotation of colon, Abnormal ossification involving the femoral head... |
ORPHA:1190 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:261750 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract, Chorioretinal dysplasia |
OMIM:251270 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Hepatomegaly, Delayed eruption of teeth, Osteomyelitis, Decreased response to growth ... |
ORPHA:811 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616570 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... |
ORPHA:289157 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Hepatomegaly, Flexion contracture of finger, Decreased response to growth hormone ... |
OMIM:602782 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Chorioretinal atrophy, Nasolacrimal duct obstruction, Dev... |
OMIM:612109 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, ... |
OMIM:615877 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon... |
OMIM:615234 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Warburg Micro Syndrome 1 |
|
Short stature, Cryptorchidism, Facial hypertrichosis, Microphthalmia, Failure to thrive, Hypertri... |
OMIM:600118 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
| Temtamy Syndrome |
|
Highly arched eyebrow, Lens luxation, Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Dow... |
OMIM:218340 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Lacrimal duct atresia, Iris coloboma |
ORPHA:139450 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Glucose intolerance |
ORPHA:75563 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c... |
ORPHA:139471 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... |
OMIM:618886 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry... |
ORPHA:261529 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, Anemia, Micr... |
ORPHA:290 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... |
OMIM:614736 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Pierpont Syndrome |
|
Telecanthus, Microcornea, Narrow palpebral fissure, Blepharophimosis, Microphthalmia, Unilateral ... |
OMIM:602342 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... |
OMIM:269700 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Growth delay, Nail dystrophy, Anonychia, Sparse body hair, Anemia |
ORPHA:79402 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Congenital hip dislocation, Foot joint contracture, Ulnar deviation of the 3rd fing... |
ORPHA:456312 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Rickets, Ac... |
OMIM:607765 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Patent ductus arteriosus |
OMIM:615297 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... |
OMIM:231100 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Pierpont Syndrome |
|
Microphthalmia, Narrow palpebral fissure, Telecanthus, Microcornea |
ORPHA:487825 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Splenomegaly, Growth delay, Anemia |
ORPHA:100025 |
| Hartsfield Syndrome |
|
Ptosis, Telecanthus, Microphthalmia, Downslanted palpebral fissures, Intrauterine growth retardation |
ORPHA:2117 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... |
ORPHA:89936 |
| Pancreatic And Cerebellar Agenesis |
|
Joint stiffness, Flexion contracture, Overlapping fingers, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
| Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic in... |
ORPHA:1452 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Impotence, Cirrhosis, Neutropenia, ... |
OMIM:604250 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Microphthalmia, Micr... |
OMIM:610125 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes |
OMIM:269920 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Delayed pubic bone ossification, 2-3 toe syndactyly, Knee flexion contracture,... |
OMIM:618162 |
| Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Astigmatism, Chorioretinal coloboma, Peters anomaly, Blepharophimosis, Microphthalmia... |
ORPHA:494344 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Fanconi Anemia, Complementation Group S |
|
Short stature, Low anterior hairline, Long eyelashes, Sparse hair, Microphthalmia, Failure to thr... |
OMIM:617883 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... |
ORPHA:1512 |
| Dextrocardia |
|
Meckel diverticulum, Congenital hip dislocation, Intestinal malrotation, Abnormality of the splee... |
ORPHA:1666 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Hepatosplenomegaly, Decreased ... |
OMIM:614592 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... |
OMIM:612561 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Woolly hair, Decreased... |
OMIM:234050 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract, Sparse lateral eyebrow |
ORPHA:170 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice... |
OMIM:208500 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Microphthalmia, Isolated 8 |
|
Anophthalmia, Entropion, Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Short palpebr... |
OMIM:615113 |
| Deafness, X-Linked 7 |
|
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis |
OMIM:301018 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... |
OMIM:619644 |
| Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
| Sandestig-Stefanova Syndrome |
|
Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, Microphtha... |
OMIM:618804 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Neonatal death, Microphthalmia, Iris coloboma, Intrauterine growth retard... |
ORPHA:85284 |
| Acrocallosal Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Wide anterior fontanel, Triphalangeal thumb |
ORPHA:36 |
| Pycnodysostosis |
|
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... |
OMIM:616113 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... |
OMIM:613027 |
| Anauxetic Dysplasia 3 |
|
Short metacarpal, Joint hypermobility, Hip subluxation, Wide anterior fontanel, Squared iliac bon... |
OMIM:618853 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Patent ductus arter... |
ORPHA:77298 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia, Failure to thrive |
OMIM:274270 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Shallow orbits, Microphthalmia |
OMIM:617306 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
| Classic Galactosemia |
|
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, D... |
ORPHA:79239 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... |
ORPHA:769 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microcytic anemia, Microphthalmia, Failure to thrive, Hypertrichosis |
OMIM:612379 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
| Feingold Syndrome |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Micrognathia, Abnormality of the spleen, Esophageal... |
ORPHA:1305 |
| Larsen-Like Syndrome |
|
Joint laxity, Wide anterior fontanel, Dental malocclusion, Cleft palate, Radial deviation of the ... |
OMIM:608545 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... |
OMIM:229400 |
| Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... |
OMIM:203800 |
| Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypop... |
ORPHA:85194 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated circulating thyroid-stim... |
ORPHA:94086 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Short palm, Osteomalacia, Recurrent fractures, Malabsorption, Camptodactyly of finger... |
ORPHA:2176 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism, De... |
ORPHA:95496 |
| Dent Disease 1 |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Brittle hair, Short stature, Bilateral cryptorchidism, Neutropenia, Microphtha... |
OMIM:616395 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Wide anterior fontanel, Cleft palate, High palate, Clinoda... |
OMIM:619736 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Flexion contracture, Hyperinsuline... |
OMIM:613327 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia |
ORPHA:3469 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corne... |
OMIM:278730 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly, Hypoglycemia |
OMIM:306000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Cataract, Corneal opacity, Death in childhood |
OMIM:613153 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, S... |
OMIM:131100 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Short stature, Cryptorchidism, Obesity, Sparse hair, Microphthalmia, Decreased test... |
OMIM:619185 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Pancreatic cysts, Abnormal... |
ORPHA:1318 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... |
ORPHA:91495 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Hypoplastic ischia, Micrognathia, Bowing of the legs, Hepatosplenomegaly... |
ORPHA:313855 |
| Frontonasal Dysplasia 1 |
|
Microphthalmia, Epicanthus, Cataract, Ptosis |
OMIM:136760 |
| Lissencephaly 8 |
|
Microphthalmia, Cataract |
OMIM:617255 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... |
ORPHA:199296 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Osteomalacia, Elevated circulating growth hormone concentration,... |
ORPHA:562 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Small for ges... |
OMIM:224120 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Iris hypopigmen... |
ORPHA:54 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... |
ORPHA:2930 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Arachnodactyly, Overlapping toe, Micrognathia, Biliary hyperplasia, Cryptorchidism,... |
ORPHA:83617 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Premature ovarian insufficiency, Short stature, Female infertility |
OMIM:619518 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Eyelid coloboma, Anophthalmia, Orbital cyst |
OMIM:164180 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria |
OMIM:257910 |
| Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Developmental cataract |
OMIM:613155 |
| Baraitser-Winter Syndrome 2 |
|
Telecanthus, Highly arched eyebrow, Long palpebral fissure, Microphthalmia, Ptosis |
OMIM:614583 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, High palate, Triphalan... |
OMIM:201170 |
| Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Ove... |
OMIM:300963 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
| 8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Iris hypopigmentation, Corneal opacity, Sclerocornea, Blepharophimosis, Mic... |
ORPHA:284160 |
| Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Wide ... |
OMIM:601390 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:266150 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Macroglossia, Wide anterior fontanel |
OMIM:275100 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon... |
OMIM:261680 |
| Achondroplasia |
|
Bowing of the legs, Hip joint hypermobility, Wide anterior fontanel, Short proximal phalanx of fi... |
ORPHA:15 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Hepatomegaly, Cryptorchidism, Cholestasis, Anemia, Decreased liver function, Ne... |
OMIM:608104 |
| Baraitser-Winter Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Chorioretinal coloboma, Long palpebral fissure, Microphthalmia... |
OMIM:243310 |
| Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Micrognathia, Pancreatic steatosis, Cryptorchi... |
OMIM:617052 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Osteoporosis, Rickets |
OMIM:560000 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Jaundice, Rickets, Cholestasis, Steatorrhea, Abnormal intrahe... |
ORPHA:79303 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Microphthalmia, Cataract |
ORPHA:93267 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Vitreoretinochoroidopathy |
|
Pulverulent cataract, Developmental cataract, Microcornea, Microphthalmia, Abnormality of chorior... |
OMIM:193220 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestatio... |
OMIM:227650 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, D... |
OMIM:278000 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Crypt... |
OMIM:615546 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Brittle hair, Short stature, Trichoschisis, Small for gestational age, Fine hai... |
OMIM:601675 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia, Patent ductus arteriosus, Peters anomaly |
OMIM:618652 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Chromosome 16Q22 Deletion Syndrome |
|
Broad hallux, Micrognathia, Cryptorchidism, Wide anterior fontanel, Hip dysplasia, High palate |
OMIM:614541 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, Ir... |
OMIM:110100 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma |
OMIM:613456 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Patent ductus arteriosus, Hypoplasia of penis |
ORPHA:2547 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Cardiomyo... |
OMIM:235200 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:251038 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomal... |
ORPHA:198 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox... |
ORPHA:2484 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia, Intrauterine grow... |
ORPHA:1352 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Papillary cystadenoma of the epididymis, Absent vas deferens, Bicornuate uterus, Hypospadias |
ORPHA:93111 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Retrognathia... |
OMIM:212112 |
| Neonatal Adrenoleukodystrophy |
|
Wide anterior fontanel, Abnormality of the liver |
ORPHA:44 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Epicanthus, Cataract, Downslanted palpebral fissures |
OMIM:614105 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Microretrognathia, Overlapping toe, Rocker bottom foot, Tapered fi... |
ORPHA:488642 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Cholelithiasis, Wide anterior fontanel, Abnormal cortical bone morp... |
OMIM:614886 |
| Trisomy 13 |
|
Anophthalmia, Cataract, Abnormal eyelash morphology, Aplasia/Hypoplasia of the iris, Microphthalm... |
ORPHA:3378 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
| Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
| Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Nail dyst... |
OMIM:618165 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Chorioretinal coloboma, Peters anomaly, Microphthalmia |
OMIM:120200 |
| Oculofaciocardiodental Syndrome |
|
Cataract, Highly arched eyebrow, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma, Ptosis |
ORPHA:2712 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Synophrys, Micronodular cirr... |
OMIM:606003 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma |
ORPHA:3374 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Dysmenorrhea, Abnormal erythrocyte en... |
ORPHA:264580 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Hepatosplenomegaly |
OMIM:611590 |
| Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Wide anterior fontanel, Decreased skull ossification, Short distal phalanx... |
ORPHA:2963 |
| Warburg Micro Syndrome 3 |
|
Small scrotum, Cataract, Hypoplastic labia minora, Developmental cataract, Microcornea, Shallow a... |
OMIM:614222 |
| Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2791 |
| Adams-Oliver Syndrome |
|
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Leukope... |
ORPHA:974 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Parathyroid hyperplasia, Hypophosphatemic rickets, Hyperparathyroidism, Rickets |
OMIM:612089 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Arthrogryposis multiplex congenita, Lower-limb joint contracture, Pancreatic hypoplasia, Reduced ... |
ORPHA:99885 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Blepharophimosis, Microphthalmia, Cataract, Death in childhood |
OMIM:214150 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... |
ORPHA:2470 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Cryptorchidism, Developmental cataract, Hypoplastic labia majora, Microc... |
OMIM:614225 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Telecanthus, Epicanthus, Sparse eyelashes, Cataract, Microcornea, Persistent pupillary membrane, ... |
OMIM:257850 |
| Lissencephaly, X-Linked, 2 |
|
Wide anterior fontanel, High palate, Decreased testicular size, Micrognathia |
OMIM:300215 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Abnormal hair morphology, Oligozoospermia |
ORPHA:3000 |
| Fibrochondrogenesis 1 |
|
Short palm, Hypoplastic scapulae, Broad long bones, Dumbbell-shaped long bone, Wide anterior font... |
OMIM:228520 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Epicanthus, Downslanted palpebral fissures |
OMIM:602501 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, High palate, Short phalanx of finger, Genu varum, Short metacarp... |
ORPHA:221016 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Wide anterior fontanel, Hypoplasia of the thymus |
OMIM:617241 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Postaxial hand polydactyl... |
OMIM:200995 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Bowing of the long bones, Rickets, Abnormal hepatic glycogen storage, H... |
ORPHA:2088 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Wide anterior fontanel, Hand polydactyly, High palate, Broad thumb |
OMIM:239710 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Micrognathia, Crypt... |
OMIM:268400 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, A... |
ORPHA:141099 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Joint stiffness, Hypoplastic ilia, Wide anterior fontanel,... |
ORPHA:1860 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... |
ORPHA:508 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth... |
ORPHA:300298 |
| Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, Micropenis, D... |
OMIM:615663 |
| Gomez-Lopez-Hernandez Syndrome |
|
Wide anterior fontanel, High palate, Decreased response to growth hormone stimulation test, Crani... |
OMIM:601853 |
| Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Syndactyly, Overlapping toe, Intestinal malrotation, Supernumerary nipple... |
OMIM:605039 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Osteoporosis, Gout, Inflammation of the large in... |
OMIM:232220 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Goiter, Wide anterior fontanel, Prolonged neonatal jaundice |
ORPHA:95715 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Joint laxity, Microretrognathia, High palate, Short clavicles, Short 4th metacarpal |
OMIM:606220 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Narrow palpebral fissure, Developmental cataract |
OMIM:614219 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Micrognathia, Cryptorchidism, Pyloric stenosis, High, narrow palate, Wide anterio... |
OMIM:248700 |
| Familial Benign Copper Deficiency |
|
Anemia, Early balding, Short stature, Aplasia/Hypoplasia of the fovea |
ORPHA:1551 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorch... |
OMIM:600901 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Micropht... |
OMIM:243605 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Colitis, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Downslanted palpebral fissures, Peters anomaly |
OMIM:614526 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Ectopia pupillae, Astigmatism, Microphthalmia, Unilateral narrow palpebral fissure |
OMIM:618727 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Hypoplasia of the maxil... |
OMIM:182212 |
| Infantile Liver Failure Syndrome 2 |
|
Jaundice, Hypoglycemia |
OMIM:616483 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Cryptorchidism, Fine hair, Hypogonadism, Microphthalmia, Intrauterine growth retardation |
ORPHA:228390 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Shortening of all phalanges of fingers, Shortening of all metacarpals |
OMIM:601356 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Cataract, Narrow palpebral fissure, Astigmatism, Horizontal eyebrow, Microphthalmia |
OMIM:618571 |
| Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate... |
OMIM:119600 |
| Zellweger Syndrome |
|
Hepatomegaly, Malabsorption, Micrognathia, Cryptorchidism, Jaundice, Pyloric stenosis, Wide anter... |
ORPHA:912 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
| Desbuquois Dysplasia 2 |
|
Joint laxity, Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Coxa valga, Met... |
OMIM:615777 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea |
ORPHA:370959 |
| Frontorhiny |
|
Epicanthus, Cataract, Microphthalmia, Iris coloboma, Ptosis |
ORPHA:391474 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... |
OMIM:612541 |
| Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Microphthalmia, Anophthalmia |
OMIM:613885 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Short metacarpal, Abn... |
ORPHA:221008 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Developmental cataract, Microphthalmia, Micropenis, Decreased testicula... |
ORPHA:335 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Abnormal dental enamel morphology, Micrognathia, Aplastic clavicle, Wide anter... |
ORPHA:85199 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retard... |
ORPHA:79240 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Weight l... |
ORPHA:54251 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... |
ORPHA:2126 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Osteomalacia, Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos |
ORPHA:2717 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, Joint laxity, Delayed eruption of teeth, Carious teeth, Cryptorchidism, Wide anterior... |
OMIM:607812 |
| Gracile Bone Dysplasia |
|
Death in infancy, Short stature, Asplenia, Aniridia, Microphthalmia, Hypoplastic spleen, Failure ... |
OMIM:602361 |
| Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Short stature, Nail dystrophy, Highly arched eyebrow |
OMIM:300887 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Growth delay, Hepatic failure, Anemia |
ORPHA:75233 |
| Cystinosis |
|
Rickets, Portal hypertension, Malabsorption |
ORPHA:213 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Short stature, Generalized hypopigmentation of ... |
ORPHA:3322 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Wide... |
OMIM:617925 |
| Short Syndrome |
|
Telecanthus, Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the... |
ORPHA:3163 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... |
ORPHA:288 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2788 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Hypoplasia of the uln... |
ORPHA:2909 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Downslanted palpebral fissures |
OMIM:619981 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Short stature, Postnatal growth retar... |
OMIM:212750 |
| Distal Deletion 12Q |
|
Unilateral cryptorchidism, Broad hallux, Overlapping toe, Micrognathia, High, narrow palate, Pitu... |
ORPHA:96149 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalmia |
ORPHA:2505 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Failure to thrive, Early balding, Anemia |
OMIM:121270 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Upslanted palpebral fissure, Microcornea, Blepharophimosis, Microphthalmia, Short pal... |
OMIM:156610 |
| Meier-Gorlin Syndrome 7 |
|
Joint laxity, 2-4 finger syndactyly, Anal stenosis, Sagittal craniosynostosis, Craniosynostosis, ... |
OMIM:617063 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Wide anterior fontanel, Cl... |
OMIM:217980 |
| Enlarged Parietal Foramina |
|
Craniosynostosis, Broad thumb, Short clavicles, Cleft palate |
ORPHA:60015 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... |
ORPHA:2636 |
| Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Long eyebrows, Long eyelashes, S-shaped palpebral fissures, Microphthalmia, Ptosis |
OMIM:201180 |
| Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Patent ductus arteriosus, Hypoplastic labia majora, Microphthalmia, Iris col... |
ORPHA:2328 |
| Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Wide anterior fontanel, Cleft palate, Abnormal dia... |
ORPHA:2021 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Kapur-Toriello Syndrome |
|
Cataract, Cryptorchidism, Patent ductus arteriosus, Hypoplastic labia majora, Microphthalmia, Mic... |
OMIM:244300 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Proximal placement of thumb... |
OMIM:616263 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Hypoplastic ilia, Wide anterior fontanel, Flared m... |
ORPHA:2347 |
| Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Nasolacrimal duct obstruction, Microcornea,... |
OMIM:147791 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... |
ORPHA:101330 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Intestinal malrotation |
ORPHA:2143 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Cholangitis, Micrognathia, Short metatarsal, Hepatic fibrosis, High palate, Clinodact... |
OMIM:266920 |
| Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Metaphyseal widening, Genu varum, Steatorrhea, High palate, Hyperechogenic pancreas... |
OMIM:617941 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microphthalmia, Downslanted palpebral fissures, Short palpebr... |
OMIM:614230 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Microphthalmia, Short stature, Obesity |
ORPHA:3191 |
| Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Epicanthus, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior ch... |
ORPHA:2479 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Intestinal malrotation, Li... |
OMIM:147750 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Downslanted palpebral fissures, Intrauterine growth retardation |
ORPHA:1438 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorch... |
OMIM:227645 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... |
OMIM:617253 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... |
OMIM:620005 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple... |
OMIM:308300 |
| Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Short palm, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterio... |
OMIM:249420 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Cach... |
ORPHA:83469 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Wide anterior fontanel, Polydactyly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del... |
ORPHA:1652 |
| Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthalmia |
OMIM:613001 |
| Microphthalmia, Lenz Type |
|
Cataract, Ankyloblepharon, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:568 |
| 3Mc Syndrome 1 |
|
Single interphalangeal crease of fifth finger, Supernumerary nipple, Wide anterior fontanel, Clef... |
OMIM:257920 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Premature graying of hair, Anemia, Nail dystrophy, Lymphopen... |
OMIM:620365 |
| Hydatidiform Mole |
|
Menometrorrhagia, Miscarriage, Anemia |
ORPHA:99927 |
| Xylt1-Cdg |
|
Joint laxity, Hepatomegaly, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Short f... |
ORPHA:370930 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Anemia, Coombs-positive hemolytic... |
OMIM:304790 |
| Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micrognathia, Trismus, Submucous cleft hard palate, Flexion contracture... |
ORPHA:2671 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Osteopetrosis |
OMIM:612301 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma, Vagi... |
ORPHA:3301 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Cataract, Abnormally large globe |
OMIM:615249 |
| Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Asplenia, Bilateral cryptor... |
OMIM:617746 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Death in infancy, Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphth... |
OMIM:613150 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1553 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Cataract, Microcornea, Microphthalmia, Ir... |
ORPHA:899 |
| Refsum Disease |
|
Microphthalmia, Cataract, Ptosis |
ORPHA:773 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon... |
ORPHA:2250 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Recurrent mandibular s... |
OMIM:225410 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Wide anterior fontanel, Micrognathia |
OMIM:618272 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Cataract, Microcornea, Microphthalmia, Downslanted palpebral fissures, Ptosis |
OMIM:616449 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria |
OMIM:616026 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Microcornea, Microphthalmia, Downslanted palpebral fi... |
ORPHA:35173 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, H... |
OMIM:603554 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Decreased liver function, Neonatal death, Intrauterine growth retardation, Anemia |
OMIM:618835 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Wide anterior fontanel |
OMIM:618240 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Decreased liver function, Neonatal death, Intrauterine growth retardation, Anemia |
OMIM:618839 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Short metacarpal, Bowing of the long bones, Aplastic... |
ORPHA:50945 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Fetal Alcohol Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan... |
OMIM:611881 |
| Lymphedema-Distichiasis Syndrome |
|
Ptosis, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Distichia... |
OMIM:153400 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Thrombocytopenia, Cryptorchidism, Leukopenia, Microphthalmia, Failure to thrive, A... |
OMIM:603467 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Unilateral cryptorchidism, Postnatal growth retardation, Abnormal eyelash morpholog... |
OMIM:206920 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Cohen Syndrome |
|
Short stature, Thick hair, Failure to thrive in infancy, Abnormal eyelash morphology, Cryptorchid... |
ORPHA:193 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Carious teeth, Wide anterior fontanel, High palate, Joint hypermobility |
OMIM:219200 |
| Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
| Seckel Syndrome 2 |
|
Growth delay, Microphthalmia, Short stature, Small for gestational age |
OMIM:606744 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cataract, Leukocoria, Intrauterine growth retardation |
ORPHA:2714 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, 2-3 toe c... |
OMIM:600920 |
| Micro Syndrome |
|
Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic labia minora, Microcornea, Clitoral hy... |
ORPHA:2510 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ... |
ORPHA:449432 |
| Liver Disease, Severe Congenital |
|
Joint laxity, Hepatomegaly, Chronic gastritis, Micrognathia, Biliary hyperplasia, Intrahepatic ch... |
OMIM:619991 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Anal stenosis, Multiple joint contractures, Broad hallux, Intestinal malrotation, Mic... |
OMIM:305450 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Atypical Werner Syndrome |
|
Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Insulin-resistant diab... |
ORPHA:79474 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Microphthalmia, Downslanted p... |
OMIM:620098 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Short fifth metatarsal, Overlapping toe, Cl... |
ORPHA:264450 |
| 1Q41Q42 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Abnormality iris morphology |
ORPHA:250999 |
| Neuroocular Syndrome |
|
Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Hypoplasia of the fove... |
OMIM:619539 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Protruding tongue, Bowing of the le... |
OMIM:200600 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Decreased body weight, Microphthalmia, Mild short stature |
OMIM:614833 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... |
ORPHA:42775 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Monosomy 13Q14 |
|
Epicanthus, Cataract, Microphthalmia, Intrauterine growth retardation, Iris coloboma, Ptosis |
ORPHA:1587 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Tibial bowing, Anteriorly placed anus, High palate, Hepatoblastoma, Streak ovary, W... |
ORPHA:798 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Hepatic necrosis, Nail pits, Anemia, Leukopenia, Prematur... |
OMIM:127550 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Cataract, Chorioretinal atrophy |
ORPHA:891 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hypospa... |
OMIM:206900 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Neuhauser Syndrome |
|
Iridodonesis, Epicanthus, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures |
OMIM:249310 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Death in infancy, Giant cell hepatitis, Small for gestational age,... |
OMIM:208085 |
| Smith-Kingsmore Syndrome |
|
Short proximal phalanx of finger, Cryptorchidism, Wide anterior fontanel, Short distal phalanx of... |
OMIM:616638 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Recurrent fractures, Femoral retroversion, Bowing of the legs, M... |
OMIM:610682 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladde... |
ORPHA:2255 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Hypoplasia of the zygomatic... |
ORPHA:556955 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... |
ORPHA:235 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Wide anterior fontanel |
OMIM:614883 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Synophrys |
ORPHA:261272 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint laxity, Long toe, Bowing of the long bones, Arachnodactyly, Recurrent fractures... |
OMIM:130070 |
| Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:614324 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos |
OMIM:248450 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Bilateral microphthalmos, Upslanted palpebral fissure, Horizontal eyebrow, Ocular ant... |
ORPHA:369891 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micrognathia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal ... |
OMIM:271665 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly... |
OMIM:309801 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Blepharophimosis, Microphth... |
ORPHA:404440 |
| Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia, Anemia |
OMIM:617244 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Cryptorchidis... |
ORPHA:2554 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Short palpebral fissure, I... |
ORPHA:364577 |
| Aceruloplasminemia |
|
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration |
ORPHA:48818 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Monosomy 18P |
|
Microphthalmia, Alopecia, Short stature, Low posterior hairline |
ORPHA:1598 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyebrow, Iris coloboma, Sparse eyelashes, Unilateral microphthalmos |
OMIM:618874 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated ... |
ORPHA:465508 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Short stature, Sparse eyelashes, Nail dystrophy, Intrauterine growth retardation, Failu... |
OMIM:620040 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr... |
ORPHA:98870 |
| Alveolar Echinococcosis |
|
Liver abscess, Abnormal pelvis bone morphology, Cholangitis, Portal hypertension, Eosinophilia, P... |
ORPHA:284 |
| Heart And Brain Malformation Syndrome |
|
High, narrow palate, Wide anterior fontanel, Camptodactyly of finger |
OMIM:616920 |
| Dubowitz Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Hypoplasia of the iris, Intrauterine growth retardation, Blephar... |
OMIM:223370 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Supernumerary nipple, Pyloric stenosis, Wide anterior fontanel, Submu... |
ORPHA:457279 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Jaundice, Hypoglycemia, Cirrhosis |
OMIM:617049 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Wide anterior fontanel, Congenital hip dislocation, Joint hypermobility, Increased susceptibility... |
ORPHA:357058 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Acro-Renal-Ocular Syndrome |
|
Epicanthus, Cataract, Optic disc hypoplasia, Microcornea, Chorioretinal coloboma, Microphthalmia,... |
ORPHA:959 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm |
OMIM:613807 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorch... |
OMIM:227646 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology, Cryptorchidism |
ORPHA:2189 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Osteomalacia, Malabsorption, Intrahepatic cholestasis, Rickets |
OMIM:227810 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Oligozoospermia, ... |
ORPHA:85450 |
| Distal Deletion 6P |
|
Epicanthus, Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... |
ORPHA:96125 |
| Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er... |
OMIM:619322 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Post... |
OMIM:263520 |
| Proteus-Like Syndrome |
|
Cataract, Abnormal pupil morphology, Limbal dermoid, Downslanted palpebral fissures, Heterochromi... |
ORPHA:2969 |
| Duane Retraction Syndrome |
|
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Blepharospasm, Microcorn... |
ORPHA:233 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... |
OMIM:268310 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Neutropenia, Microphthalmia, Decreased body weight, Intrau... |
OMIM:609053 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... |
ORPHA:90790 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Carious teeth, Bifid femur, Increa... |
ORPHA:2769 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract |
OMIM:616538 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia... |
ORPHA:536471 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Rocker bottom foot, Protruding tongue, Micrognathi... |
OMIM:214100 |
| Cockayne Syndrome B |
|
Hepatomegaly, Dry hair, Severe short stature, Small for gestational age, Postnatal growth retarda... |
OMIM:133540 |
| Moebius Syndrome |
|
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:157900 |
| Restrictive Dermopathy 2 |
|
Microretrognathia, Rectal prolapse, Overtubulated long bones, Short clavicles |
OMIM:619793 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Adrenal hyperplasia, High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed ... |
ORPHA:95699 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Postnatal growth retardation, Sparse eyebrow, Patchy alopecia, Spar... |
OMIM:302960 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Short clavicles, Hy... |
OMIM:618022 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Lower eyelid coloboma, A... |
OMIM:263650 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Eyelid coloboma, Bilateral microphthalmos, Optic nerve hypoplasia, Telecanthus |
OMIM:607597 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Sparse axillary hair, Bilateral cryptorchidism, Sparse pub... |
ORPHA:99429 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| 1Q21.1 Microdeletion Syndrome |
|
Epicanthus, Cataract, Microphthalmia, Iris coloboma, Intrauterine growth retardation |
ORPHA:250989 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Congenital Disorder Of Glycosylation, Type If |
|
Wide anterior fontanel, Flexion contracture |
OMIM:609180 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Intestinal malrotation, Biliary atresia, Colon perforation, Pancreatic hypopl... |
OMIM:600001 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
OMIM:608836 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Cystic Fibrosis |
|
Absent vas deferens |
ORPHA:586 |
| Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure, Blepharophimosis, Mic... |
OMIM:613451 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Microphthalmia, Ptosis |
ORPHA:306542 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Shallow anterior chamber |
OMIM:305390 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Intrauterine growth retardation, Death in infancy |
ORPHA:163966 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Death in infancy, Cataract, Optic nerve hypoplasia, Peters anomaly, Death in childhood, Microphth... |
OMIM:614643 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl... |
OMIM:113300 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Blepharophimosis, Microphthalmia, Intrauterine growth retardation, Ptosis |
ORPHA:2728 |
| Hurler Syndrome |
|
Hepatomegaly, Hypoplasia of the femoral head, Joint stiffness, Coxa valga, Splenomegaly, Metaphys... |
OMIM:607014 |
| Tetrasomy 5P |
|
Overlapping toe, Short hallux, Micrognathia, Wide anterior fontanel, Long fingers, High palate, C... |
ORPHA:3309 |
| Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Horner syndrome, Developmental cataract |
OMIM:606519 |
| Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia... |
OMIM:251300 |
| Martsolf Syndrome 1 |
|
Epicanthus, Cataract, Developmental cataract, Microphthalmia, Downslanted palpebral fissures |
OMIM:212720 |
| Alg9-Cdg |
|
Microretrognathia, Hepatomegaly, Villous atrophy, Micrognathia, Wide anterior fontanel, Flared me... |
ORPHA:79328 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
| Bohring-Opitz Syndrome |
|
Micrognathia, Limitation of joint mobility, Bilateral wrist flexion contracture, Cleft palate, Co... |
ORPHA:97297 |
| Mpdu1-Cdg |
|
Wide anterior fontanel, Decreased response to growth hormone stimulation test |
ORPHA:79323 |
| Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Micrognathia, Asplenia, Esophageal atresia, Short toe, Short t... |
OMIM:164280 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre... |
ORPHA:99228 |
| Monosomy X |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre... |
ORPHA:99226 |
| Turner Syndrome |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre... |
ORPHA:881 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Telecanthus, Iris coloboma |
ORPHA:2612 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
| Cdags Syndrome |
|
Sagittal craniosynostosis, Rectourethral fistula, Cleft palate, Rectovaginal fistula, Short clavi... |
OMIM:603116 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Failure to thrive in infancy, Bilateral microphthalmos, Death in childhood, Intrau... |
OMIM:610758 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
| Trisomy 9P |
|
Abnormal pupil morphology, Downslanted palpebral fissures |
ORPHA:236 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Micrognathia, Metatarsus adductus, Cryptorchidism,... |
OMIM:614866 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Lacrimal duct atresia, Sclerocornea |
OMIM:300952 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Persistence of hemoglobi... |
OMIM:260400 |
| Wilson Disease |
|
Hypoparathyroidism, Hepatomegaly, Osteomalacia, Splenomegaly, Atypical or prolonged hepatitis, Ja... |
OMIM:277900 |
| Fryns Syndrome |
|
Microretrognathia, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Prox... |
OMIM:229850 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue... |
ORPHA:564 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Joubert Syndrome 14 |
|
Epicanthus, Highly arched eyebrow, Microphthalmia, Downslanted palpebral fissures, Ptosis |
OMIM:614424 |
| Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract, Hypogonadism |
OMIM:610651 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Abdominal situs ambiguus, Immotile sperm |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anisocoria, Congenital fi... |
ORPHA:45358 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... |
OMIM:218600 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Eyelid coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:268249 |
| Gapo Syndrome |
|
Hepatomegaly, Micrognathia, High, narrow palate, Wide anterior fontanel, Eruption failure, Hypopl... |
OMIM:230740 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... |
OMIM:620306 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomeg... |
ORPHA:14 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Intestinal malrotation, Portal hypertension, Esophageal varix, Rickets,... |
OMIM:613658 |
| Papillorenal Syndrome |
|
Cataract, Lens luxation, Orbital cyst, Chorioretinal atrophy, Microphthalmia |
OMIM:120330 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... |
OMIM:181450 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Telecanthus, Iris coloboma |
ORPHA:1236 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Microcephaly-Micromelia Syndrome |
|
Neonatal death, Microphthalmia, Short palpebral fissure, Intrauterine growth retardation |
OMIM:251230 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Hepatomegaly, Otosclerosis, Cryptorchidism, Splenomegaly, Wide anterior fo... |
ORPHA:116 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Wide anterior fontanel, Jaundice, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, Hypoplasia of the zygomatic bone, High pal... |
OMIM:618500 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Microgn... |
OMIM:309350 |
| Cat Eye Syndrome |
|
Epicanthus, Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma |
OMIM:115470 |
| 2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Synophrys, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Short palpe... |
ORPHA:251014 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Short sternum, Intestinal malrotation |
OMIM:222448 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Hypoplasia of the iris, Microcornea, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
| Duane-Radial Ray Syndrome |
|
Epicanthus, Cataract, Optic disc hypoplasia, Microphthalmia, Iris coloboma, Palpebral fissure nar... |
OMIM:607323 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Wide anterior fontanel, Acute pancreatitis |
ORPHA:26791 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Downslanted palpebral fissures |
ORPHA:65286 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Sparse eyebrow, Developmental cataract, Microcornea, Microphthalmia, Downslanted palp... |
ORPHA:464738 |
| Stevenson-Carey Syndrome |
|
Microphthalmia, Downslanted palpebral fissures |
OMIM:611961 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Tibial bowin... |
ORPHA:96334 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... |
ORPHA:125 |
| Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer, Osteomalacia, Pancreatitis |
ORPHA:405 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Small nail, Microphthalmia |
OMIM:612530 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Abnormal finger morphology, Phocomelia, Microgastria, Hepatomegaly, Ap... |
ORPHA:2538 |
| Trisomy 18 |
|
Epicanthus, Cataract, Microcornea, Blepharophimosis, Microphthalmia, Iris coloboma, Intrauterine ... |
ORPHA:3380 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Epicanthus |
OMIM:618494 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypopla... |
OMIM:603457 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, High palate, Clinodactyly of the 5th finger, Bifid uvula, Microretrognathi... |
OMIM:200990 |
| 17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Pancreatic aplasia |
ORPHA:261265 |
| 3P25.3 Microdeletion Syndrome |
|
Blepharophimosis, Microphthalmia, Epicanthus, Downslanted palpebral fissures |
ORPHA:435638 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Cryptorchidism, Patent ductus arteriosus, Abnormality of th... |
ORPHA:99776 |
| Curry-Jones Syndrome |
|
Blepharophimosis, Microphthalmia, Iris coloboma |
OMIM:601707 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Peters anomaly, Cryptorchidism, Buphthalmos, H... |
OMIM:236670 |
| Kenny-Caffey Syndrome, Type 2 |
|
Severe short stature, Small for gestational age, Short stature, Microphthalmia, Anemia |
OMIM:127000 |
| Degcags Syndrome |
|
Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficiency anemia, ... |
OMIM:619488 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, High palate, Short palm, Duplication of the distal phalanx of hand, Dislocated radi... |
OMIM:180700 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
| Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Cryptorchidism, Bilateral... |
ORPHA:33364 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:300863 |
| Pelvis-Shoulder Dysplasia |
|
Microcornea, Bilateral microphthalmos, Iris coloboma, Short palpebral fissure |
ORPHA:2839 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Short stature, Cryptorchidism, Weight loss, Aplasia/H... |
ORPHA:84 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, Chorioretinal dysplasia, Catar... |
ORPHA:2526 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Abnormal pupil morphology, Intrauterine growth retardation, Downs... |
ORPHA:52 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Frontal balding |
ORPHA:1942 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Chime Syndrome |
|
Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the hand, Hip disl... |
ORPHA:3474 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Cryptorchidism |
OMIM:241410 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Uveitis, Microcornea, Blepharophimosis, Microphthalmia, Short palpebral fis... |
OMIM:164200 |
| Incontinentia Pigmenti |
|
Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Abnormal fingernail morphology, Abno... |
ORPHA:464 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Cryptorchidism, Flat acetabular roof, Anteriorly placed anus, Fused cervical vert... |
OMIM:617159 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Synophrys, Upslanted palpebral fissure, Microcornea, Blepharophimosis, Microphthalmia... |
OMIM:616734 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Short stature, Severe short stature, Cryptorchidism, Bilateral microphthalmos, Mult... |
OMIM:601186 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Rocker bottom foot, Micrognathia, Ankylosis, Wide anterior f... |
OMIM:275210 |
| Hallermann-Streiff Syndrome |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Chorioretinal coloboma, Microphthalmia, Downslanted p... |
OMIM:234100 |
| Momo Syndrome |
|
Epicanthus, Bilateral microphthalmos, Eyelid coloboma, Chorioretinal coloboma, Downslanted palpeb... |
ORPHA:2563 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Delayed eruption of teeth, Hyperparathyroidism, Osteomalacia, Recurrent fr... |
ORPHA:534 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Penoscrotal transposition, ... |
OMIM:619148 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:608013 |
| Knobloch Syndrome 1 |
|
Epicanthus, Telecanthus, Band keratopathy, Phthisis bulbi, Chorioretinal atrophy, Developmental c... |
OMIM:267750 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation, Intrauterine growth retardation |
OMIM:603194 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Intestinal malrotation, Cryptorchidism, ... |
ORPHA:2308 |
| Gaisböck Syndrome |
|
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... |
ORPHA:90041 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... |
ORPHA:79330 |
| Cousin Syndrome |
|
Microcornea, Narrow palpebral fissure, Blepharophimosis, Microphthalmia, Short palpebral fissure |
OMIM:260660 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Postax... |
OMIM:267010 |
| Medullary Thyroid Carcinoma |
|
Weight loss, Abnormal liver parenchyma morphology |
ORPHA:1332 |
| Holoprosencephaly |
|
Epicanthus, Anophthalmia, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Choriore... |
ORPHA:2162 |
| Mend Syndrome |
|
Broad hallux, Overlapping toe, Micrognathia, Cryptorchidism, Wide anterior fontanel, Long fingers... |
ORPHA:401973 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... |
ORPHA:93325 |
| Opitz Gbbb Syndrome |
|
Rectourethral fistula, Cryptorchidism, Wide anterior fontanel, Cleft palate, High palate, Anal at... |
OMIM:300000 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Mosaic Trisomy 1 |
|
Congenital bilateral ptosis, Microphthalmia, Downslanted palpebral fissures, Opacification of the... |
ORPHA:1692 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hepatomegaly |
OMIM:619053 |
| Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Camptodactyly of finger, Cryptorchidism, Rickets, Hip dislocation, Genu valgum, Fin... |
OMIM:309000 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation, Intrauterine growth retardation |
OMIM:611134 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Microphthalmia |
ORPHA:3412 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, Hepatic fibrosis, High palate, Microretrognathia, Syndactyly, Hamartoma of tong... |
OMIM:311200 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Epicanthus, Cataract, Downslanted palpebral fissures |
ORPHA:77301 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Sp... |
ORPHA:2092 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Hartsfield Syndrome |
|
Syndactyly, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Cleft palate, Ectrodactyly... |
OMIM:615465 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Carious tee... |
OMIM:278250 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pelvic bone exostoses, Hiatus hernia, Coxa valga, Capitate-hamate fu... |
OMIM:304150 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Micrognathia, Cryptorchidism, Furrowed tongue, Hip dysplasia, High palate, Clinodacty... |
OMIM:616975 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Absent axillary hair, Irregular menstruation, Decreas... |
ORPHA:90793 |
| Miller Fisher Syndrome |
|
Anisocoria, Mydriasis, Ptosis |
ORPHA:98919 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
| Treacher-Collins Syndrome |
|
Cataract, Absent eyelashes, Blepharospasm, Eyelid coloboma, Microphthalmia, Downslanted palpebral... |
ORPHA:861 |
| Toriello-Carey Syndrome |
|
Aganglionic megacolon, Micrognathia, Cryptorchidism, Wide anterior fontanel, Cleft palate, Anteri... |
ORPHA:3338 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Short palpebral fissure, I... |
OMIM:608670 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Cystinosis, Nephropathic |
|
Hepatomegaly, Splenomegaly, Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets,... |
OMIM:219800 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cataract, Orbital cyst, Iris coloboma |
OMIM:109400 |
| Ohdo Syndrome, X-Linked |
|
Epicanthus, Sparse eyebrow, Blepharophimosis, Microphthalmia, Downslanted palpebral fissures, Ptosis |
OMIM:300895 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
| Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Microphthalmia, Downslanted palpebral fissures, Intrauteri... |
ORPHA:1052 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Microphthalmia, Iris co... |
OMIM:309800 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Abnormality iris morphology, Upslanted palpebral fissure, Microcornea |
ORPHA:2710 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Fontaine Progeroid Syndrome |
|
Death in infancy, Sparse scalp hair, Absent nipple, Short stature, Small for gestational age, Cry... |
OMIM:612289 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia |
OMIM:259770 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Fryns Syndrome |
|
Corneal opacity, Hypospadias, Cryptorchidism, Bicornuate uterus, Microphthalmia |
ORPHA:2059 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, High, narrow palate, Hypoplasia of the maxilla, Flexion c... |
OMIM:180849 |
| Steinfeld Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:184705 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cryptorchidism, Patent ductus arteriosus, Stillbirth, Ambiguous genitalia, Microphthalmia |
OMIM:616300 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Roberts Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Severe intrauterine growth retardation, Sparse hair... |
ORPHA:3103 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia, Corneal opacity, Shallow orbits |
OMIM:601812 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Cataract |
OMIM:253800 |
| Teebi-Shaltout Syndrome |
|
Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Sparse hair, Micr... |
OMIM:272950 |
| Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:18 |
| Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Epicanthus, Downslanted palpebral fissures, Intrauterine growth retardation |
OMIM:617729 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Tibial bowing, Wide anterior fontanel, Femoral bowing |
OMIM:616482 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Pyloric stenosis, Wide anterior fontanel, Hip dislocation, Small bowel diverticula,... |
ORPHA:90349 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Overlapping toe, Tapered finger, Wide anterior fontanel, Long fingers, Den... |
OMIM:618371 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Esophageal varix, Periportal f... |
OMIM:263200 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
| Pallister-Hall Syndrome |
|
Short stature, Cryptorchidism, Nail dysplasia, Neonatal death, Microphthalmia, Decreased testicul... |
OMIM:146510 |
| Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Micropenis, Bicornuate uterus, Cryptorchidism |
OMIM:264480 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus |
OMIM:619607 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Epicanthus, Iris coloboma, Chorioretinal coloboma |
OMIM:613884 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Short stature, Sparse eyebrow, Hydrocele testis, Hypoplasti... |
OMIM:620186 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| 1P36 Deletion Syndrome |
|
Brachydactyly, Camptodactyly of finger, Joint stiffness, Abnormality of the spleen, Cryptorchidis... |
ORPHA:1606 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Posterior embryotoxon, Anophthalmia, Hypospadias, Corneal opacity, Scl... |
ORPHA:2556 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per... |
OMIM:301040 |
| Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Intrauterine growth retardation, Disproportionate short-trunk short st... |
OMIM:608022 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
| Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Ptosis |
OMIM:146500 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... |
OMIM:175780 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Small hand, Short clavicles, Tapered finger |
ORPHA:401923 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Myhre Syndrome |
|
Short stature, Small for gestational age, Cryptorchidism, Obesity, Fine hair, Birth length less t... |
OMIM:139210 |
| Renpenning Syndrome 1 |
|
Epicanthus, Telecanthus, Cataract, Upslanted palpebral fissure, Death in childhood, Microphthalmi... |
OMIM:309500 |
| Holoprosencephaly 7 |
|
Synophrys, Bilateral microphthalmos, Upslanted palpebral fissure, Shallow orbits, Microphthalmia,... |
OMIM:610828 |
| Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Median cleft lip and palate, Pancreatic fibrosis, Decreased res... |
ORPHA:699 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Six2-Related Frontonasal Dysplasia |
|
Wide anterior fontanel |
ORPHA:488437 |
| Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Severe short stature, Cachexia, Postnatal ... |
ORPHA:191 |
| Fucosidosis |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
| Neu-Laxova Syndrome 1 |
|
Ablepharon, Cataract, Absent eyelashes, Stillbirth, Neonatal death, Microphthalmia, Pterygium, In... |
OMIM:256520 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Phthisis bulbi, Developmental cataract, Microcornea, Laterally curved eyebrow, Blep... |
OMIM:300166 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, High palate, Absent hallux, Decreased... |
OMIM:216340 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Fanconi Anemia, Complementation Group L |
|
Growth delay, Microphthalmia, Anemia, Intrauterine growth retardation |
OMIM:614083 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Optic nerve hypoplasia, Almond-shaped palpebral fissure, Microphthalmia, Iris ... |
ORPHA:508498 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Failure to thri... |
OMIM:219700 |
| Monosomy 9P |
|
Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Micr... |
ORPHA:261112 |
| Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Mild postnatal growth retardation, Splenom... |
ORPHA:90324 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Microphthalmia, Vaginal at... |
OMIM:273395 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Micrognathia, Asplenia, Esophageal atresia, Tracheoesophageal fistula, Cl... |
OMIM:265380 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc... |
ORPHA:649 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Osteomyelitis, Duodenal ulcer, Gastritis, Osteomalacia, Splenomegaly, Hepatitis,... |
OMIM:619381 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Proximal p... |
OMIM:261540 |
| Microphthalmia With Limb Anomalies |
|
Death in infancy, Abnormal eyebrow morphology, Short stature, Cryptorchidism, Microphthalmia, Fai... |
ORPHA:1106 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| 47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Male infertility |
OMIM:244400 |
| Isolated Exencephaly |
|
Hypoplasia of the frontal bone, Anterior pituitary hypoplasia, Posterior pituitary agenesis |
ORPHA:563612 |
| Generalized Arterial Calcification Of Infancy |
|
Osteomalacia, Hepatic calcification, Stippled calcification of the shoulder, Abnormal calcificati... |
ORPHA:51608 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
| Sarcoidosis |
|
Hemolytic anemia, Alopecia, Hepatomegaly, Eosinophilia, Portal hypertension, Increased T cell cou... |
ORPHA:797 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus |
OMIM:619879 |
| Joubert Syndrome 2 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:608091 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... |
OMIM:252500 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia |
ORPHA:2166 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Floating-Harbor Syndrome |
|
Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Celiac disease,... |
OMIM:136140 |
| 22Q11.2 Deletion Syndrome |
|
Telecanthus, Epicanthus, Cataract, Abnormal eyelid morphology, Upslanted palpebral fissure, Micro... |
ORPHA:567 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Biliary hyperplasia, Congenit... |
ORPHA:731 |
| Aicardi Syndrome |
|
Microphthalmia, Cataract, Chorioretinal lacunae, Sparse lateral eyebrow |
OMIM:304050 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f... |
ORPHA:251510 |
| Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles |
OMIM:168550 |
| Charge Syndrome |
|
Epicanthus, Anophthalmia, Highly arched eyebrow, Eyelid coloboma, Chorioretinal coloboma, Microph... |
ORPHA:138 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... |
ORPHA:90797 |
| Histiocytoid Cardiomyopathy |
|
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Downslanted palp... |
OMIM:235730 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Lower eyelid coloboma, ... |
OMIM:154500 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:365 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Neonatal Marfan Syndrome |
|
Iridodonesis, Megalocornea, Downslanted palpebral fissures, Ectopia lentis |
ORPHA:284979 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Delayed eruption of teeth, Joint stiffness, Limited wrist movem... |
ORPHA:740 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Synophrys, Nuclear pulverulent cat... |
OMIM:612474 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short statu... |
OMIM:163950 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Isolated Arrhinia |
|
Microphthalmia, Eyelid coloboma |
ORPHA:1134 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Pmm2-Cdg |
|
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... |
ORPHA:79318 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... |
OMIM:253280 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:3186 |
| Denys-Drash Syndrome |
|
Wide anterior fontanel, Ovarian gonadoblastoma |
OMIM:194080 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts |
OMIM:193300 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Cryptorchidis... |
OMIM:249000 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
| Yunis-Varon Syndrome |
|
Sparse scalp hair, Short stature, Sparse eyelashes, Postnatal growth retardation, Cryptorchidism,... |
ORPHA:3472 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Wide anterior fontanel, Micrognathia |
OMIM:618548 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
| Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Pyloric stenosis, ... |
OMIM:218040 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cataract, Cryptorchidism,... |
ORPHA:857 |
| Aicardi Syndrome |
|
Microphthalmia, Chorioretinal coloboma, Sparse lateral eyebrow |
ORPHA:50 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Anophthalmia, Short stature, Brittle hair, Supernumerary nipple, Cryptorchidism, Pat... |
OMIM:305600 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Supernumerary tooth, Postaxial hand polydactyl... |
OMIM:617088 |
| Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... |
ORPHA:2052 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham... |
ORPHA:91500 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Cataract, Anisocoria, Shallow orbits, Microphthalmia, ... |
OMIM:613406 |
| Branchiooculofacial Syndrome |
|
Telecanthus, Anophthalmia, Cataract, Nasolacrimal duct obstruction, Upslanted palpebral fissure, ... |
OMIM:113620 |
| Fraser Syndrome 1 |
|
Absent eyebrow, Anophthalmia, Corneal opacity, Absent eyelashes, Bilateral microphthalmos, Upper ... |
OMIM:219000 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:610829 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Bilateral cryptorchidis... |
ORPHA:1772 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Postnatal growth retardation, Cryptorchidism, Biliary tract abnormality, Stillb... |
OMIM:268300 |
| Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus, Low anterior hairline |
OMIM:617666 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology |
ORPHA:91387 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Short fifth metatarsal, Anterior pituitary hypopl... |
OMIM:619841 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Severe fa... |
ORPHA:468631 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal... |
ORPHA:51 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Hamartoma of tongue, Preaxial polydactyly, Cleft palate |
OMIM:616546 |
| Charge Syndrome |
|
Anophthalmia, Hypogonadotropic hypogonadism, External genital hypoplasia, Cataract, Cryptorchidis... |
OMIM:214800 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Brachydactyly, Camptodactyly of finger, Metatarsus adductus, Cryptorchidism, Wide anterior fontan... |
OMIM:607872 |
| Leukocyte Adhesion Deficiency |
|
Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Microphthalmia, Stillbirth, Intrauterine growth retardation |
OMIM:236680 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Floating-Harbor Syndrome |
|
Short metacarpal, Brachydactyly, Persistence of primary teeth, Celiac disease, Cryptorchidism, Hy... |
ORPHA:2044 |
| Microphthalmia, Syndromic 6 |
|
Small scrotum, Anophthalmia, Female hypogonadism, Sclerocornea, Cryptorchidism, Microcornea, Micr... |
OMIM:607932 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Pallister-Hall Syndrome |
|
Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Hydrome... |
ORPHA:672 |
| Neurooculorenal Syndrome |
|
Iris atrophy, Highly arched eyebrow |
OMIM:620305 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Hypercalcemia, Elevated... |
ORPHA:904 |
| Holoprosencephaly 2 |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Epicanthus, Telecanthus, Cataract, Highly arched eyebrow, Abnormal pupil morphology... |
ORPHA:261552 |
| Adams-Oliver Syndrome 1 |
|
Microphthalmia, Alopecia, Small nail, Supernumerary nipple |
OMIM:100300 |
| 8Q24.3 Microdeletion Syndrome |
|
Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, Highly arched eye... |
ORPHA:508488 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Micrognathia, Flexion contracture, Anteriorly placed anus, Camptodact... |
OMIM:601803 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Septate vagina, Webbed penis, Cryptorchidism, Patent ductus... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Cataract, Hypospadias, Septate vagina, Webbed penis, Cryptorchidism, Hydrocele tes... |
ORPHA:261537 |
| Holoprosencephaly 1 |
|
Microphthalmia, Micropenis |
OMIM:236100 |
| Craniofacial Microsomia 1 |
|
Anophthalmia, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Microphthalmia, Ptosis |
OMIM:164210 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Abnormal eyelash morphology, Abn... |
ORPHA:286 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
