Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
Megalencephaly |
|
Atrial septal defect, Short neck, Long penis, Genu valgum, Macroorchidism |
ORPHA:2477 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Tapered finger |
OMIM:300706 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Pes planus, Mitral valve prolapse, Scoliosis, Metacarpophalangeal j... |
OMIM:300624 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Clark-Baraitser syndrome |
|
Genu recurvatum, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm, Macroorchidism |
OMIM:300602 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology,... |
ORPHA:324410 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Short 3rd metacarpal,... |
OMIM:118651 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... |
OMIM:613673 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Arachnodactyly, Camptodactyly of finger, Micrognathia, Scoliosis, Macroorch... |
ORPHA:776 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Partington Syndrome |
|
Macroorchidism, Facial telangiectasia |
ORPHA:94083 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... |
OMIM:615631 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility |
ORPHA:98797 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... |
OMIM:619217 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short neck, Hypoplastic iliac wing, Uln... |
OMIM:620076 |
Xp22.13P22.2 Duplication Syndrome |
|
Tapered finger, Short neck, Small hand, 2-3 toe syndactyly, Polycystic ovaries, Scoliosis, Macroo... |
ORPHA:284180 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Congestive heart failure, Kyphoscoliosis |
ORPHA:3077 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small scrotum, Hypospadias, Rhizomelia, Short femur, Sandal gap, Hypoglycemia, Cry... |
OMIM:607143 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Long pe... |
ORPHA:1988 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Fragile X Syndrome |
|
Macroorchidism, Pes planus, Mitral valve prolapse |
ORPHA:908 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Kyphoscoliosis, Short neck, Micrognathia, Small hand, Scoliosis, Macroorchidism, Male hypogonadis... |
OMIM:300055 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, ... |
OMIM:616860 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Trisomy 20P |
|
Finger syndactyly, Hypospadias, Talipes, Camptodactyly of finger, Short neck, Micrognathia, Crypt... |
ORPHA:261318 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge... |
OMIM:235200 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpus... |
ORPHA:231226 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Precocious puberty, Metatarsus adductus, Abnormal heart morp... |
ORPHA:356961 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Rocker bottom foot, Anisocytosis, Micrognathia, Renal hypoplasia, Lacticaciduria, A... |
OMIM:604273 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate p... |
OMIM:224120 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... |
ORPHA:3320 |
Polyembryoma |
|
Macroorchidism, Abnormal sacrum morphology, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor... |
ORPHA:562 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Scholte Syndrome |
|
Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot, Micropenis, Decreased te... |
OMIM:300977 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, S... |
OMIM:620306 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Sh... |
OMIM:609945 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia, Abnormalit... |
OMIM:307500 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Adducted thumb, Hypospadias, Mitral valve prolapse |
OMIM:618874 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Pr... |
OMIM:263520 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Hyperextensibility of the finger joints, Ventricular septal defect, Arachno... |
OMIM:309520 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Short toe, Hyperinsuline... |
ORPHA:3085 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Hemivertebrae, Decreased fertility, Abnormal form... |
ORPHA:2234 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Rhizomelia, Increased fibular diameter, Micrognathia, S... |
OMIM:258315 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... |
OMIM:616300 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Omodysplasia 2 |
|
Dyspareunia, Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Short 1st metacarpal, Uter... |
OMIM:164745 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, S... |
OMIM:601559 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b... |
OMIM:300908 |
Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Adrenal hyperplasia, Hypoglycemia, Male pseudohermaphroditism, Macroorchid... |
ORPHA:90790 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Cryptorch... |
OMIM:610198 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnormality of the testis... |
ORPHA:99330 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Hypospadias, Fractured radius, Cardiomegaly, Short neck, ... |
OMIM:616897 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Short neck, Micrognathia, Complete atrioventricular canal def... |
OMIM:617925 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Cantu Syndrome |
|
Bicuspid aortic valve, Ovoid vertebral bodies, Broad hallux, Short neck, Pericardial effusion, Ca... |
OMIM:239850 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Aspartylglucosaminuria |
|
Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Vacuolated lymphocytes, Hypoplastic frontal sinus... |
OMIM:208400 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... |
OMIM:300280 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Poikilo... |
ORPHA:98870 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria... |
OMIM:618652 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Short neck, Micrognathia, Hemivertebrae, Tibial bowing, Hypoplastic ... |
ORPHA:96334 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Abnor... |
OMIM:269920 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Impotence, Nephropathy, Arrhythmia, Abnorma... |
ORPHA:85447 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Micrognathia, Increased circulating ... |
ORPHA:261534 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal defect, Renal insuff... |
ORPHA:2970 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic ... |
ORPHA:465508 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Short neck, Cardiomegaly, Wide distal femoral metaphysis, Dela... |
OMIM:613320 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... |
ORPHA:56305 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Impotence, Glucose i... |
OMIM:606069 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Pituitary hypothyroidism, Bradycardia, Abnormal... |
ORPHA:90674 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Hereditary Bullous Dystrophy, Macular Type |
|
External genital hypoplasia, Tapered finger, Cryptorchidism, Heart murmur, Abnormal heart morphol... |
ORPHA:1867 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small... |
ORPHA:93356 |
Congenital Myopathy 8 |
|
Congestive heart failure, Scoliosis, Cardiomegaly |
OMIM:618654 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Short neck, Absent thumb, Absent radius, Humeroradial synostosis, Missi... |
OMIM:251230 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis,... |
OMIM:610628 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Micrognathia, Kyphos... |
ORPHA:958 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Genu valgum, Small pituitary gland, Micropenis, Decreased tes... |
OMIM:614880 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Coxa vara, Femoral bo... |
OMIM:608940 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Back pain, Elevated urinary catecholamine level, Pancreatic islet cell ... |
ORPHA:892 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... |
OMIM:603671 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3... |
OMIM:206920 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... |
OMIM:115197 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Rocker bottom foot, Hypoglycemia, Cryptorchidism, Th... |
OMIM:617053 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Proteinuria, Unilateral renal agenesis, Impaired glucose toleranc... |
OMIM:137920 |
Aspartylglucosaminuria |
|
Hepatomegaly, Pes planus, Aspartylglucosaminuria, Abnormal morphology of ulna, Splenomegaly, Ante... |
ORPHA:93 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Fibular aplasia |
OMIM:218550 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Abnormal form of the vertebral bodies, F... |
ORPHA:1788 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, ... |
OMIM:301082 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... |
OMIM:274000 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Hypoplasia of the ulna, Split hand, Bicornuate uterus, Split foot, U... |
OMIM:200980 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Clubbing of fingers,... |
ORPHA:335 |
Proteus Syndrome |
|
Pulmonary embolism, Abnormal finger morphology, Abnormal form of the vertebral bodies, Renal cyst... |
ORPHA:744 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... |
OMIM:601005 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitr... |
OMIM:212140 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Pancytopenia, Ivory epiphyses, Hypospadias, Abnormal finger flexion... |
OMIM:210600 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... |
ORPHA:1517 |
Carney Complex |
|
Leydig cell neoplasia, Ovarian serous cystadenoma, Abnormal sperm motility, Precocious puberty, O... |
ORPHA:1359 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Leukocytosis, Hypertension, Acute kidney injury, ... |
OMIM:618886 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... |
OMIM:614473 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly |
ORPHA:858 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac wing, Abnormal ve... |
ORPHA:93315 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Pes planus, Sacral dimple, Prominent fingertip pads, Hyperlordosis, Precocious puberty, Short nec... |
OMIM:619950 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin... |
OMIM:136140 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Absent frontal sinuses, Congestive heart failure, Hypoplastic frontal... |
OMIM:253250 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Micrognathia, Complete at... |
OMIM:236680 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar... |
OMIM:252920 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... |
OMIM:616050 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Short neck, Mi... |
ORPHA:2879 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hypertension... |
OMIM:193300 |
Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, ... |
ORPHA:79330 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Pes ... |
OMIM:266500 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Dumbbell-shaped long bo... |
ORPHA:3144 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Microg... |
OMIM:617022 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Micrognathia, Metaphyseal widening, Hepatomegaly, Thoracolumbar kyphoscoliosis, Hyp... |
OMIM:252500 |
Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Absent/hypoplastic paranasal sinuses, Lumbar hyperlordosis,... |
OMIM:230000 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Hypoketotic hypoglyc... |
OMIM:600649 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Dec... |
ORPHA:79124 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Cystic Echinococcosis |
|
Hepatomegaly, Abscess, Abnormality of the testis size, Eosinophilia, Renal cyst, Abnormal heart m... |
ORPHA:400 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Microretrognathia, Diabetes mellitus, Impaired glucose tolerance, Elevat... |
OMIM:617253 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Short neck, Micrognathia, Knee dislocation, Shoulder disloca... |
OMIM:245600 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia, Cardiomegaly |
OMIM:618838 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Cardiomegaly, Cryptorchidism, Scoliosis, Cl... |
OMIM:618143 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Cousin Syndrome |
|
Short neck, Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous gen... |
OMIM:260660 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepato... |
ORPHA:99931 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Overlapping fingers, Micropenis, Abnormal natural killer ce... |
OMIM:615966 |
Floating-Harbor Syndrome |
|
Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Atrial septal defect, Mesocardi... |
ORPHA:2044 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... |
OMIM:214800 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Immunodeficiency 54 |
|
Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess |
OMIM:609981 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... |
ORPHA:1827 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... |
OMIM:276820 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, ... |
OMIM:143095 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidi... |
OMIM:130650 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Hyperlordosis, Spinal rigidity, Cardiomegaly, Limited knee flexion/extension, Right... |
ORPHA:268 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At... |
OMIM:306955 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell c... |
ORPHA:158061 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Cardio... |
ORPHA:42 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Scoliosis, Cardiomegaly |
ORPHA:3137 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Ureteral duplication, Renal insufficiency, Tapered toe, Hypoglycemia, Lon... |
OMIM:608836 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Congestive hear... |
OMIM:261740 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Arrhythmia, Hypoketoti... |
OMIM:255120 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Cardiomegaly,... |
OMIM:201475 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Red-brown urine, Porphyrinuria, Le... |
ORPHA:79277 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... |
OMIM:300855 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Leukopenia, Abnormality of the uterus, Triphalangeal thu... |
ORPHA:84 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Short neck, Hypopl... |
OMIM:228520 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Talipes equinovarus, Scoliosis, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cuta... |
OMIM:619752 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Werner Syndrome |
|
Telangiectasia of the skin, Rocker bottom foot, Myocardial infarction, Congestive heart failure, ... |
ORPHA:902 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:304120 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Pgm3-Cdg |
|
Hemolytic anemia, Brachydactyly, Membranoproliferative glomerulonephritis, Abnormal proportion of... |
ORPHA:443811 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal ... |
ORPHA:3404 |
Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Short palm, Large iliac wing, Aplastic clavicle, Scoliosis, Abnormal pu... |
ORPHA:198 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Renal cyst, Hypoplastic iliac wing, Nephritis, S... |
OMIM:208500 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Lung abscess, Radial bowing, B lymphocytopenia, Reduced natural killer ce... |
OMIM:241600 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocy... |
OMIM:308240 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Hypoglycemia, ... |
ORPHA:391428 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Pes planus, Ventricular septal defect, Left ventricular noncompaction cardiomyopat... |
OMIM:300967 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Hypoglycemia, Sudden cardiac death, Cardiom... |
OMIM:614921 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Im... |
ORPHA:158687 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri... |
ORPHA:228308 |
Immunodeficiency 85 And Autoimmunity |
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T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Hemophagocytic Syndrome Associated With An Infection |
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Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distribution, ... |
ORPHA:158048 |
Wolcott-Rallison Syndrome |
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Hepatomegaly, Metaphyseal dysplasia, Renal insufficiency, Neonatal insulin-dependent diabetes mel... |
ORPHA:1667 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of CD4-positive ... |
OMIM:243700 |
Fibular Dimelia-Diplopodia Syndrome |
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Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Unilateral renal agenesis, Hyperlordosis, Abnormal T cell subset distribution, Clinodactyly of th... |
ORPHA:221139 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Impaired glucose tolerance, Camptodactyly of f... |
OMIM:256040 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Hepatomegaly, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circ... |
ORPHA:276 |
Acute Monoblastic/Monocytic Leukemia |
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Acute monocytic leukemia, Ankle swelling, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Williams Syndrome |
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Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Micrognathia, Ab... |
ORPHA:904 |
Sandhoff Disease |
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Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Im... |
OMIM:268800 |
Combined Oxidative Phosphorylation Deficiency 33 |
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Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular ... |
OMIM:617713 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Absence Of The Pulmonary Artery |
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Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Kyphosis, Mucopolysacchariduria, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Arachnodactyly, Cardiomegaly, Thin metatarsal cortices, Slender long bone, Lumbar hemivertebrae, ... |
ORPHA:2463 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Eiken Syndrome |
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Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Acheiropodia |
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Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Urinary incontinence, Cardiomegaly, Cardiomyopathy, Impotence, Orthostatic hypotension due to aut... |
OMIM:105210 |
Mesomelia-Synostoses Syndrome |
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Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Aplasia/Hypopla... |
ORPHA:2753 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Aortic regurgitation, Pes planus, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid ... |
ORPHA:91387 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Ureteral duplication, Hypoglycemia, Neonatal hypoglycemia, Cardiomegaly, Cryptorchi... |
ORPHA:116 |
Hermansky-Pudlak Syndrome 2 |
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Hepatomegaly, Absent platelet dense granules, Splenomegaly, Hepatosplenomegaly, Enlarged platelet... |
OMIM:608233 |
Liver Disease, Severe Congenital |
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Cardiomegaly, Biliary hyperplasia, Micrognathia, Abnormal left ventricular function, Leukopenia, ... |
OMIM:619991 |
Familial Aortic Dissection |
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Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Beck-Fahrner Syndrome |
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Pes planus, Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Aicardi-Goutières Syndrome |
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Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Neonatal alloimmune thrombocytopenia, Hepato... |
ORPHA:51 |
Glycogen Storage Disease Ii |
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Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... |
OMIM:232300 |
Truncus Arteriosus |
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Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, He... |
ORPHA:581 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Mi... |
ORPHA:444077 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Cardiomegaly, Micrognathia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:608013 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Perianal abscess, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombocytosis, Red... |
OMIM:301074 |
Acute Panmyelosis With Myelofibrosis |
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Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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T lymphocytopenia, Reduced natural killer cell count, Micrognathia |
OMIM:242860 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Abetalipoproteinemia |
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Hepatomegaly, Reticulocytosis, Kyphoscoliosis, Cardiomegaly, Acanthocytosis, Congestive heart fai... |
ORPHA:14 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, 3-Methylglutaconic aciduria, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Immunodeficiency 92 |
|
Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope... |
OMIM:619652 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Reticulocytosis, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Eosi... |
ORPHA:3261 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Hyperlordosis, Cardiomegaly, Vasculitis, Shortened PR in... |
ORPHA:365 |
Osteopathia Striata With Cranial Sclerosis |
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Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Ventricular septal defect, Arachnodacty... |
OMIM:300373 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... |
OMIM:182250 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:620133 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Micrognathia, Abnormal cardiac septum morphology, Urinary retention, Bradycardia, M... |
ORPHA:97297 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Abnormality of the knee, Hyperphosphaturia, Transient ischemic attack, C... |
ORPHA:51608 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Brachydactyly, Broad toe, Rhizomelia, Bicuspid aortic valve, Broad distal phalanges... |
OMIM:218330 |
Kinsship Syndrome |
|
Pes planus, Sacral dimple, Micrognathia, Short neck, Coxa valga, Hip dislocation, Renal hypoplasi... |
OMIM:619297 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Vascul... |
OMIM:619381 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Myocarditis, Splenomegaly, Vasculitis, Thrombocytopenia, Enlargement of parotid gla... |
ORPHA:50918 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... |
OMIM:617718 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |