Lipedema |
|
Edema |
OMIM:614103 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Angioedema, Hereditary, 5 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619361 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... |
ORPHA:261529 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Delayed femoral head ossification, Flattened femoral head, Congenital hip dislocation, Leukocytos... |
ORPHA:168621 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Hypogonadism, Decreased testicular size, Congenital muscular dystrophy, Abnormality of ... |
ORPHA:1875 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Mirage Syndrome |
|
Leukopenia, Anemia, Radial club hand, Decreased body weight, Short stature, Microphallus, Decreas... |
OMIM:617053 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea, Osteopo... |
OMIM:300604 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Camptodactyly, Primary amenorrhea, Hypoplasia of the uterus, Sparse body hair, General... |
ORPHA:432 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Abnormality of secondary sexual hair, Ambiguous genitalia, Decreased serum e... |
ORPHA:243 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, L... |
ORPHA:2232 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased proportion of CD4-positive helper T cells, Decreased serum estradiol,... |
ORPHA:66628 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Hyperprolactinemia |
|
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased proportion of CD4-positive helper T cells, Decreased serum estradiol,... |
ORPHA:179494 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Inguinal hernia, Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian... |
OMIM:261550 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Recurrent fractures, Short stature, Absence of secondary sex characteristics... |
ORPHA:2235 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema |
OMIM:618773 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... |
OMIM:300510 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid ha... |
ORPHA:91 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... |
ORPHA:543 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Hyperinsulinemia, Kyphosis, Secondary amenorrhea, Decreased testicular size, Type ... |
ORPHA:3085 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Osteopenia, Menorrhagia, Oligomenorrh... |
ORPHA:397685 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Satoyoshi Syndrome |
|
Hyperlordosis, Sparse or absent eyelashes, Short stature, Abnormality of the ovary, Alopecia univ... |
ORPHA:3130 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Medial flaring of the eyebrow, Hypogonadism, Short stature, Hypoplasia of penis... |
ORPHA:110 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... |
OMIM:612885 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Omenn Syndrome |
|
Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Severe B lympho... |
OMIM:603554 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Gracile Bone Dysplasia |
|
Asplenia, Short stature, Failure to thrive, Decreased skull ossification, Hypoplastic spleen, Mic... |
OMIM:602361 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Camptodactyly, Short neck, Skeletal muscle atrophy, Cryptorchidism, Neonatal death, Art... |
OMIM:618393 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... |
OMIM:612541 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Osteosclerosis of the base of the skull... |
OMIM:609993 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Short stature, Cervical spinal canal stenosis, Dela... |
OMIM:301900 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619834 |
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 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 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
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 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Short... |
OMIM:208900 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
Ataxia-Telangiectasia |
|
Abnormal testis morphology, Premature graying of hair, Aplasia/Hypoplasia of the thymus, Type II ... |
ORPHA:100 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Anemia |
OMIM:238700 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Joint contracture of the hand, Jaundice, Camptodactyly, Intrahepatic bi... |
OMIM:214110 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Kyphosis, Short stature, Long eyelash... |
ORPHA:48431 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Dist... |
OMIM:600175 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Short stature, Premature ovarian insufficiency, Failu... |
OMIM:619518 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Abnormal hair mor... |
ORPHA:3000 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... |
OMIM:602450 |
Hemochromatosis, Type 1 |
|
Alopecia, Cirrhosis, Impotence, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Diabet... |
OMIM:235200 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Increased serum testosterone level, Short stature, Synophrys, Abnormality... |
ORPHA:247768 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Lower limb muscle weakness, Skeletal muscle atrophy, Scoliosis, Kyphosis |
OMIM:611225 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... |
OMIM:201170 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, In... |
ORPHA:754 |
Perrault Syndrome 3 |
|
Streak ovary, Short stature, Elevated circulating luteinizing hormone level, Hypergonadotropic hy... |
OMIM:614129 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Smith-Magenis syndrome |
|
Hyperactivity, Brachydactyly |
DECIPHER:8 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy, Skeleta... |
ORPHA:481 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Kyphosis, Premature graying of hair, Vertebral segmentation defect, Severe short sta... |
ORPHA:2617 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Facial diplegia, Short neck, Skeletal muscle atrophy, Scoliosis, Cryptorchidism, Neonat... |
OMIM:611890 |
Microphthalmia, Syndromic 9 |
|
Diaphragmatic eventration, Bicornuate uterus, Short stature, Multilobulated spleen, Inguinal hern... |
OMIM:601186 |
Immunodeficiency 21 |
|
Anemia, Myeloid leukemia, Reduced natural killer cell count, Cervical intraepithelial neoplasia, ... |
OMIM:614172 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryp... |
ORPHA:1772 |
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 |
Parastremmatic Dwarfism |
|
Flexion contracture, Kyphosis, Severe short stature, Short neck, Scoliosis |
OMIM:168400 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Foot dorsiflexor weakness, Scoliosis, Kyphosis |
OMIM:617087 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... |
OMIM:618841 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
Functioning Gonadotropic Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... |
ORPHA:91348 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Decreased muscle mass, Weight loss, Stiff interphalangeal joints, Arth... |
ORPHA:465508 |
Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Sacral dimple, Short stature, Secondary amenorrhea, Polycystic ovaries, Hypo... |
ORPHA:1643 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis, Joint stiffness |
ORPHA:1548 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Kyphosis, Short neck, Minicore myopathy, Scoliosis, Cryptorchidism, Increase... |
ORPHA:178148 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Hypogonadism, Kyphosis, Short stature, Hypoplasia o... |
ORPHA:3409 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Intrauterine growth retardation |
ORPHA:89844 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Hypocalce... |
OMIM:607143 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, Ab... |
OMIM:194072 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Short stature, Kyphosis, Small for gestational age, Increased serum serotonin, Hirsutism |
ORPHA:85288 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Joint contracture of the hand, Small for gestational age, Short stature, Inguinal herni... |
ORPHA:352490 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Mcdonough Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Kyphosis, Short stature, Synophrys, Cachexi... |
ORPHA:2471 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... |
ORPHA:3344 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Kyphosis, Generalized limb muscle atrophy, Delayed puberty, Myopathy, Scoliosis, Distichi... |
ORPHA:2598 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus |
OMIM:300434 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
Roifman Syndrome |
|
Biconvex vertebral bodies, Hip contracture, Short stature, Delayed proximal femoral epiphyseal os... |
ORPHA:353298 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Hypoplasia of the thymus, Interface hepatitis, Lymphopenia, Impaired lymphocyt... |
OMIM:243150 |
Immunodeficiency 9 |
|
Failure to thrive, Myopathy, Hypoplasia of the thymus, Amelogenesis imperfecta |
OMIM:612782 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Limb muscle weakness, Calf muscle hypertrophy |
OMIM:313200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypogonadism, Kyphosis, Decreased testicular size, Distal lower limb amyotrophy, Short stature, J... |
OMIM:300354 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Male hypogonadism, Diabetes mellitus, Hepatic steatosis, Lipodystrophy, Scoliosis, Hepa... |
OMIM:615381 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Kyphosis, Atrophic scars, My... |
OMIM:616471 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Kyphosis, Short stature, Small for gestational age, Delayed ossification o... |
OMIM:618392 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Thrombocytopenia, Myopathy, Hypoplastic spleen |
OMIM:185070 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... |
OMIM:618963 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... |
ORPHA:90796 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... |
OMIM:617300 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Kyphosis, Generalized amyotrophy, Spinal rigidity, Joint hypermobility, Myop... |
OMIM:618323 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Ovoid vertebral bodie... |
ORPHA:40 |
Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... |
ORPHA:79239 |
Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Osteoporosis, Lymphadenopathy, Osteolysis, Hepatomega... |
ORPHA:100024 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Hypogonadism, Short stature, Erythroid hypoplasia, Testicular atrophy, Nail dystrophy, Gr... |
OMIM:618165 |
Frasier Syndrome |
|
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... |
ORPHA:347 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Growth delay, Splenomegaly |
OMIM:619164 |
Sandhoff Disease |
|
Failure to thrive, Splenomegaly, Kyphosis, Hepatomegaly |
ORPHA:796 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Marinesco-Sjogren Syndrome |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Kyphosis, Short stature, Failure... |
OMIM:248800 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Short ribs, Acetab... |
ORPHA:1505 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... |
OMIM:601559 |
Blount Disease |
|
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... |
ORPHA:2768 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
O'Donnell-Luria-Rodan Syndrome |
|
Prolonged neonatal jaundice, Kyphosis, Cryptorchidism |
OMIM:618512 |
Schaaf-Yang Syndrome |
|
Flexion contracture, Hypogonadism, Kyphosis, Short stature, Camptodactyly, Arthrogryposis multipl... |
OMIM:615547 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Short neck, Scoli... |
OMIM:271530 |
15Q24 Microdeletion Syndrome |
|
High anterior hairline, Decreased response to growth hormone stimulation test, Hernia, Kyphosis, ... |
ORPHA:94065 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo... |
OMIM:614324 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Stiff neck, Hypoplasia of the thymus, Torticollis... |
OMIM:617022 |
Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... |
ORPHA:79106 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Growth delay, Thrombocy... |
OMIM:613987 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Increased adipose tissue, Kyphosis, Short stature, Spinal rigidity, Scoliosis, Pro... |
OMIM:617404 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Lowe... |
OMIM:615290 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Shawl scrotum, Short stature, Bilateral cryptorchidism, ... |
OMIM:305400 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Increased variability in muscle fiber diameter, Flexion contracture, Kyphosis, Spi... |
OMIM:300718 |
Syndromic Diarrhea |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, ... |
ORPHA:84064 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Short stature, Adrenal ins... |
OMIM:609981 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity, Generalized amyotrophy, Hypergonadotro... |
OMIM:615084 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Skeletal muscle hypertrophy, Hepatomegaly, Primary amenorrhea, Splenomegaly, A... |
ORPHA:79083 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Congenital diaphragmatic hernia, Decreased skull ossification, Omphalocele, A... |
OMIM:601163 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Weight loss, Cho... |
ORPHA:400 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... |
OMIM:618086 |
Winchester Syndrome |
|
Kyphosis, Generalized osteoporosis, Hirsutism, Carpal osteolysis, Osteolysis involving tarsal bones |
OMIM:277950 |
Sialidosis Type 2 |
|
Splenomegaly, Flexion contracture, Kyphosis, Short stature, Inguinal hernia, Skeletal muscle atro... |
ORPHA:87876 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Anemia, Hepatic fibrosis, Cirrhosis, Limb-girdle muscle weakness, Rhabdom... |
ORPHA:79240 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Short stature, Premature ovarian insufficiency, Foot dorsiflexor weakness, Scoliosis, O... |
OMIM:618124 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Hypogonadism, Kyphosis, Synophrys, Hypoplasia of penis, Spina bifida occulta, Short neck, Abnorma... |
ORPHA:2983 |
Rudiger Syndrome |
|
Flexion contracture, Bicornuate uterus, Inguinal hernia, Ovarian cyst, Micropenis |
OMIM:268650 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... |
ORPHA:1106 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Kyphosis, Failure to thrive, Myopathy, Neonatal death, Intrauterine growth r... |
OMIM:618237 |
Ruvalcaba Syndrome |
|
Kyphosis, Short stature, Inguinal hernia, Delayed puberty, Scoliosis, Cryptorchidism, Limited elb... |
OMIM:180870 |
Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Bone marrow hypo... |
ORPHA:562 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Diaphragmatic eventration, Decr... |
OMIM:610198 |
Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Low anterior hairline, Oligomenorrhea... |
ORPHA:528 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Hypoparathyroidism, Bo... |
ORPHA:699 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Secondary amenorrhea, Cellulitis, Pancreatitis, Abnormality of skeletal muscle fiber size, Hepati... |
ORPHA:2348 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Alopecia, Non-caseating epithelioid cell granulomatosis, ... |
ORPHA:227990 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... |
OMIM:268305 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Autoimmune hypoparathyroidism, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid ... |
ORPHA:227982 |
Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Absent eyelashes, Hypoplasia of penis, Thyroid hypoplasia, Failure to t... |
ORPHA:861 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... |
OMIM:618987 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Hirsutism, Menorrhagia, Oligomenorrhea, Abnormality... |
ORPHA:2795 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity, Genera... |
ORPHA:352447 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short stature, Camptodactyly, Kyphosis |
OMIM:618453 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Increased bone mineral density, Hypoplastic cervical vertebrae... |
ORPHA:628 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... |
ORPHA:2777 |
Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Arthritis, Abnormality of the menstrual cycle... |
ORPHA:906 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Hypothyroidism, Asplenia, Alopecia, Enamel hypoplasia, Decreased circulating... |
OMIM:240300 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Kyphosis, Short stature, Vertebral segmentation defect, Spina bifida occ... |
ORPHA:2311 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Kyphosis, Short stature, Joint laxity, Scoliosis, Obesity |
OMIM:300431 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Flexion contracture, Small pituitary gland, Primary a... |
ORPHA:398069 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Adrenal insufficiency, Increased ci... |
ORPHA:91349 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Hyperextensibility at w... |
ORPHA:75840 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia |
OMIM:619437 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Growth delay, Thrombocytopenia |
ORPHA:169079 |
Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Lymphopenia, Varicocele... |
OMIM:158350 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Flexion contracture, Short stature, Decreased testicular size, Hepatic steatosis, Hypop... |
OMIM:619321 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Flexion contracture, Severe short stature, B lymphocytopenia |
OMIM:619851 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Smal... |
ORPHA:1916 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Hyperlordosis, Foot joint contracture, Flexion contracture, Congenital ... |
ORPHA:536516 |
Camurati-Engelmann Disease |
|
Hyperlordosis, Leukopenia, Anemia, Hypogonadism, Kyphosis, Abnormal subcutaneous fat tissue distr... |
ORPHA:1328 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... |
OMIM:308240 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic steatosis, Hepatomegaly, Hepatocellular adenoma, Splenomegaly, Increased sarcoplasmic gly... |
ORPHA:264580 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
Ovarian Fibroma |
|
Gonadal calcification, Abnormality of the ovary, Peritonitis, Mesenteric cyst, Ovarian fibroma |
ORPHA:314473 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ... |
OMIM:606612 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Absent tonsils, Absence of ... |
ORPHA:277 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Abnormally low T cell receptor excision circl... |
OMIM:242700 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Joint laxity, Scoliosis, Obesity |
OMIM:300602 |
Immunodeficiency 102 |
|
Hypothyroidism, Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyper... |
OMIM:301082 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Arthritis, Failure to thrive, Failure to thrive secondary t... |
OMIM:601457 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Hypospadias, Short neck, Abnorm... |
ORPHA:2522 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Cirrhosis, Kyphosis, Hypersplenism, Increased bone mineral density, Vertebral... |
ORPHA:77259 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Hepatocel... |
ORPHA:370 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Short stature, Kyphosis, Scoliosis, Obesity, Lumbar hyperlordosis |
OMIM:616756 |
Arthrogryposis, Distal, Type 4 |
|
Distal arthrogryposis, Lumbar scoliosis, Kyphosis, Torticollis, Camptodactyly, Hypoplastic labia ... |
OMIM:609128 |
Becker Nevus Syndrome |
|
Abnormality of the scrotum, Kyphosis, Hypoplastic labia minora, Supernumerary nipple, Spina bifid... |
ORPHA:64755 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Kyphosis, Frontal upsweep of hair, Scoliosis, Cryptorchi... |
OMIM:619797 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... |
OMIM:609945 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt... |
OMIM:615966 |
Lipe-Related Familial Partial Lipodystrophy |
|
Proximal muscle weakness in lower limbs, Loss of gluteal subcutaneous adipose tissue, Abnormal la... |
ORPHA:435660 |
Atelosteogenesis Type Iii |
|
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... |
ORPHA:56305 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Anemia, Primary testicular failure, Hypogonadism, Abnormal testis... |
ORPHA:85450 |
Cockayne Syndrome Type 2 |
|
Enamel hypoplasia, Flexion contracture, Kyphosis, Limb hypertonia, Scarring, Male hypogonadism, S... |
ORPHA:90322 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Thoracolumbar scoliosis, Knee flexion contracture, Hip contracture, Hyperextensibility of the fin... |
OMIM:313420 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Alopecia, Precocious puberty, Hyperthyroidism, Recurrent fractures, Abnor... |
ORPHA:457059 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Failure to thrive, Facial myokymia, Short stature, Kyphosis |
OMIM:620007 |
Prader-Willi Syndrome |
|
Precocious puberty, Adrenal insufficiency, Primary amenorrhea, Abdominal obesity, External genita... |
OMIM:176270 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Abnormal fallopian tube morphology, Asplenia, Abnormal liver lobulation,... |
ORPHA:99776 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Testicular atroph... |
OMIM:222300 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98855 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Kyphosis, Camptodactyly, Cryptorchidism, Abdominal situs inversus |
OMIM:619123 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate co... |
ORPHA:95699 |
Pelger-Huet Anomaly |
|
Kyphosis, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, M... |
OMIM:169400 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Hepatic steatosis, Parathyroid hypoplasia, Ovarian cyst... |
OMIM:188400 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Kyphosis, Decreased circulating ACTH level, Pigmented micro... |
OMIM:610475 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acut... |
OMIM:619824 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Hypoplasia of the femoral head, Thrombocytosis, Leukocytosis, Histioc... |
OMIM:209950 |
Alpha-Mannosidosis |
|
Kyphosis, Type II diabetes mellitus, Arthritis, Craniofacial hyperostosis, Macroglossia, Synostos... |
ORPHA:61 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, T lymphocytopenia, Kyphosis, Abnormal B ce... |
OMIM:618223 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating... |
OMIM:110100 |
22Q11.2 Deletion Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Short neck, Hypoparathyroidism, Abnormality of the tons... |
ORPHA:567 |
Leopard Syndrome 1 |
|
Limited elbow movement, Aplasia of the ovary, Short stature, Spina bifida occulta, Hypoplasia of ... |
OMIM:151100 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Osteoporosis, Myopathy, Scoliosis, Hepatomegaly, Macrovesicular hepa... |
OMIM:618234 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Calf muscle hypertrophy, Loss of facial adipose tiss... |
ORPHA:435651 |
Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Hepatic fibrosis, Adipose tissue loss, Intrauterine growth ... |
OMIM:246200 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Joint laxity, Inguinal hernia, Osteopeni... |
OMIM:613177 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Kyphosis, Short stature, Hypoplasia of penis, Hernia of the ab... |
ORPHA:3082 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Short stature, Albinism, Hypopigmentation of hair, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Hyperostosis, Shagreen patch, Abnormality of the parathyroid gland, Thymus hy... |
ORPHA:2969 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Lower limb muscle weakness, Kyphosis, Infertility, Scoliosis, Limb muscle weakness |
OMIM:614409 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Increased susceptibility to fractures, Kyphosis, Atrophic scars, Joint laxity, Premature osteoart... |
OMIM:130060 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hypogonadism, Kyphosis, Decreased testicular size, Synophrys, Short stat... |
ORPHA:85293 |
Zimmermann-Laband Syndrome 3 |
|
Flexion contracture, Kyphosis, Synophrys, Long eyelashes, Facial hypertrichosis, Thick eyebrow, H... |
OMIM:618658 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Short stature, Small for gestational age, Inguinal hernia, Scoliosis, Intrauterine grow... |
OMIM:615834 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Short stature, Small for gestational age, Pancytopenia, Male infertili... |
OMIM:227650 |
Primary Lipodystrophy |
|
Cirrhosis, Type II diabetes mellitus, Pancreatitis, Hepatic steatosis, Lipodystrophy, Polycystic ... |
ORPHA:90970 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... |
ORPHA:1988 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Prema... |
ORPHA:280365 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Hy... |
OMIM:616300 |
Primary Ciliary Dyskinesia |
|
Asplenia, Abnormal sperm motility, Polysplenia, Female infertility, Male infertility |
ORPHA:244 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Anemia, Irregular vertebral endplates, Flexion contracture, Hip contracture, Hypogonadism, Kyphos... |
ORPHA:3042 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... |
OMIM:613091 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Failure to thrive, Platyspondyly, Se... |
OMIM:102700 |
Noonan Syndrome 14 |
|
Sparse eyebrow, Curly hair, Kyphosis, Short stature, Lymphopenia, Scapular winging, Short neck, C... |
OMIM:619745 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Coarse metaphyseal trabecula... |
ORPHA:2635 |
Prolactinoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Secondary growth hormone deficiency... |
ORPHA:2965 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Facial diplegia, Testicular atrophy, Frontal balding, Cholelithiasis |
OMIM:160900 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Kyphosis, Joint contracture of the hand, Camptodactyly, Radioulnar synosto... |
OMIM:248700 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Joint hypermobility, Bicoronal synostosis, Delayed puberty, Hypospadias, Osteoporosis, ... |
OMIM:619718 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Abnormality of the scrotum, Aplasia/Hypoplasia of the abd... |
ORPHA:354 |
Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98853 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... |
ORPHA:8 |
Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Intrauterine growth retardation, Fail... |
OMIM:234250 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Type I diabetes mellitus, Autoimmune hem... |
ORPHA:436252 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Hyperextensibility at wrists, Flexion contracture... |
OMIM:254090 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Hypospadias, Scoliosis, Low anterior hairline |
OMIM:615761 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Myelofibrosis, Autoimmune hemolytic anemia, Lymphade... |
OMIM:301078 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... |
ORPHA:3320 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Obesity, Scoliosis, Kyphosis |
ORPHA:276630 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Lipodystrophy, De... |
OMIM:618048 |
19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Kyphosis, Synophrys, Intrauterine growth retardation, Hepatic... |
ORPHA:254346 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Gonadal dysgenesis, male, Abnormality of the gallbladder, Congenital diaphragmatic hern... |
ORPHA:2075 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Secondary amenorrhea, Premature o... |
OMIM:157640 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Broad eyebrow, Reduced subcutaneous adipose tissue... |
OMIM:264090 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hypothyroidism, Anemia, Hepatic fibrosis, Exocrine pancreatic insufficiency, Intrauterine growth ... |
OMIM:620005 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Polysplenia... |
OMIM:613807 |
Flynn-Aird Syndrome |
|
Alopecia, Kyphosis, Type II diabetes mellitus, Cachexia, Primary adrenal insufficiency, Skeletal ... |
ORPHA:2047 |
Eec Syndrome |
|
Urethral atresia, Sparse eyebrow, Hypoplasia of the thymus, Decreased response to growth hormone ... |
ORPHA:1896 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,... |
OMIM:265300 |
Isolated Anencephaly |
|
Maternal diabetes, Congenital diaphragmatic hernia, Omphalocele, Thymus hyperplasia, Intrauterine... |
ORPHA:563609 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Short stature, Vaginal hernia, Hypoplastic vertebral bodies, Scoliosi... |
ORPHA:2916 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Kyphosis, General... |
OMIM:255200 |
Ruvalcaba Syndrome |
|
Kyphosis, Synostosis of carpal bones, Intrauterine growth retardation, Inguinal hernia, Delayed p... |
ORPHA:3121 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Kyphosis, Leukemia, Supernumerary nipple, Joint hypermobility, Bicoronal... |
OMIM:619951 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Shor... |
OMIM:616005 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Synophrys, Scoliosis, Truncal obesity, Low posterior hairline, Thick eyebrow, Thick hair |
ORPHA:2429 |
Alstrom Syndrome |
|
Irregular menstruation, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response ... |
OMIM:203800 |
Harrod Syndrome |
|
Kyphosis, Failure to thrive, Hypospadias, Scoliosis, Joint hyperflexibility, Cryptorchidism, Intr... |
ORPHA:2115 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Congenital fibrosis of extraocular muscles, Highly arched eyebrow, Kyphosis |
OMIM:609384 |
Metatropic Dysplasia |
|
Flexion contracture, Relatively short spine, Abnormal enchondral ossification, Kyphosis, Caudal a... |
OMIM:156530 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Abnormality of muscle size, Kyphosis, Short stature, Joint laxity, Facial hypotonia, Scoliosis, C... |
ORPHA:364028 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... |
OMIM:227270 |
Cohen Syndrome |
|
Neutropenia, Kyphosis, Short stature, Long eyelashes, Thick eyebrow, Delayed puberty, Scoliosis, ... |
ORPHA:193 |
Hip Dysplasia, Beukes Type |
|
Abnormal bone ossification, Kyphosis, Scoliosis, Abnormality of bone mineral density, Abnormal os... |
ORPHA:2114 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Bloom Syndrome |
|
Acute myeloid leukemia, Premature ovarian insufficiency, Small for gestational age, Abnormal prop... |
ORPHA:125 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, ... |
OMIM:606367 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
3M Syndrome |
|
Decreased fertility, Hyperlordosis, Increased vertebral height, Kyphosis, Short stature, Hypospad... |
ORPHA:2616 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... |
OMIM:119800 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame... |
ORPHA:572333 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Ankle swelling, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia |
ORPHA:514 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, S... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, S... |
ORPHA:99228 |
Monosomy X |
|
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, S... |
ORPHA:99226 |
Turner Syndrome |
|
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, S... |
ORPHA:881 |
Gm1-Gangliosidosis, Type I |
|
Kyphosis, Hypoplastic vertebral bodies, Hypertrichosis, Inguinal hernia, Severe short stature, Sh... |
OMIM:230500 |
Ck Syndrome |
|
Hyperlordosis, Kyphosis, Abnormal cortical bone morphology, Joint hypermobility, Scoliosis, Slend... |
OMIM:300831 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Super... |
OMIM:609813 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Labial hypertrophy, H... |
OMIM:269700 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Scoliosis, Kyphosis |
ORPHA:101075 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Short stature |
ORPHA:3204 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Alopeci... |
ORPHA:453533 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Labial hypertrophy, H... |
OMIM:608594 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Varicocele, Scoliosis, ... |
OMIM:615109 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lumbar vertebrae, Umbilical hernia, Flexion contracture, Kyphosis, Short stat... |
OMIM:253220 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Left ventric... |
OMIM:209900 |
Ivic Syndrome |
|
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Short 1st metacarpal, Hypoplasia of th... |
OMIM:147750 |
Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Scoliosis, Ovarian cyst... |
OMIM:615108 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Coronal craniosynostosis, Fused ce... |
ORPHA:83617 |
Pituitary Adenoma 4, Acth-Secreting |
|
Biconcave vertebral bodies, Kyphosis, Increased circulating ACTH level, Pituitary adenoma, Hirsut... |
OMIM:219090 |
Cdkl5-Deficiency Disorder |
|
Growth delay, Synophrys, Scoliosis, Kyphosis |
ORPHA:505652 |
Alg9-Cdg |
|
Abnormal bone ossification, Periportal fibrosis, Rhizomelia, Bicornuate uterus, Torticollis, Hypo... |
ORPHA:79328 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... |
ORPHA:232 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Bruck Syndrome 1 |
|
Knee flexion contracture, Increased susceptibility to fractures, Hip contracture, Kyphosis, Short... |
OMIM:259450 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Upper limb hypertonia, Joint hyperflexibility, Kyphosis |
ORPHA:319199 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... |
OMIM:258315 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Contractures of the large joints, Decreased response to growth hormone stimulatio... |
ORPHA:96179 |
Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Kyphosis, Short stature, Skeletal muscle atrophy, Scoliosis... |
OMIM:230650 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... |
ORPHA:96334 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Type I diabetes mellitus, Absent circulating B cells |
OMIM:619707 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphosis, Shawl scrotum, Reduced alpha/beta synthesis ratio, Macroglossia, Hypochromic microcytic... |
OMIM:301040 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Joint stiffness, Hypospadias, Kyphoscoliosis, Gonadal dysgenesis, Crypt... |
OMIM:618820 |
16P13.2 Microdeletion Syndrome |
|
Flexion contracture, Hypogonadism, Kyphosis, Short stature, Failure to thrive, Overweight, Scolio... |
ORPHA:500055 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Masa Syndrome |
|
Hyperlordosis, Short stature, Kyphosis |
OMIM:303350 |
Pycnodysostosis |
|
Hyperlordosis, Spondylolysis, Increased susceptibility to fractures, Decreased response to growth... |
ORPHA:763 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Trisomy 13 |
|
Hernia, Kyphosis, Intrauterine growth retardation, Scoliosis, Abnormal eyelash morphology, Crypto... |
ORPHA:3378 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... |
OMIM:171480 |
Trisomy 20P |
|
Camptodactyly of finger, Short neck, Coarse hair, Thick eyebrow, Abnormal form of the vertebral b... |
ORPHA:261318 |
Micro Syndrome |
|
Kyphosis, Short stature, Hypoplastic labia minora, Hypoplasia of penis, Clitoral hypoplasia, Dela... |
ORPHA:2510 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He... |
OMIM:614034 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Chronic neutropenia, B lymphocytopenia, Arthritis, Thyroiditis, Type I diabetes m... |
OMIM:614700 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Short stature, Puberty and gonadal disorders, Abnormality of the musculature of the low... |
ORPHA:464282 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Kyphosis, Short stature, Inguinal hernia, Contracture of the distal inte... |
OMIM:607015 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Syndactyly, Preaxial po... |
OMIM:603671 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Brain abscess, Rhizomelia, Kyphosis, Disproportionate short stature, Seve... |
OMIM:616482 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Septic arthritis, Decreased response to growth hormone stimulation test, Prostatitis, Short statu... |
OMIM:307200 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Splenomegaly, Pulmonary lymphangiectasia, Hepatosplenomegaly,... |
ORPHA:1655 |
Emanuel Syndrome |
|
Sacral dimple, Kyphosis, Torticollis, Intrauterine growth retardation, Failure to thrive, Inguina... |
OMIM:609029 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short stature, Synophrys, Widow's peak, Long eyelashes, Macroglossia, Short neck, Hirsu... |
OMIM:616455 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Micrognathia, P... |
ORPHA:2751 |
Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Vertebral fusion, Decreased muscle mass, Kyphosis, Keloids, Coarse ha... |
OMIM:130720 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Failur... |
OMIM:618108 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Kyphosis, Abnormal sacrum ... |
ORPHA:324737 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Myeloid leukemia, Generalized hypertrichosis, Camptodactyly, Radioulnar s... |
ORPHA:798 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Kyphosis, Short stature, Camptodactyly, Joint hypermobility, Failu... |
OMIM:617602 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, Preaxial polydact... |
OMIM:617925 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... |
OMIM:259440 |
Sialidosis Type 1 |
|
Hernia, Kyphosis, Short stature, Skeletal muscle atrophy, Scoliosis, Splenomegaly, Abnormal form ... |
ORPHA:812 |
Bloom Syndrome |
|
Decreased fertility in females, Small for gestational age, Type II diabetes mellitus, Azoospermia... |
OMIM:210900 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... |
OMIM:206920 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Ivory epiphyses of the phalanges of the hand, Hepatomegaly, ... |
OMIM:216400 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Short stature, Type II diabetes mellitus, Synostosis of carpal bones, Biliary tract abn... |
ORPHA:3191 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Absent circulating B cells |
OMIM:613500 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased body weight, Kyphosis, Long eyelashes, Intrauterine growth retardation, Decreased hemog... |
OMIM:619005 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Hyperpituitarism, Osteolysis, Testicular neoplasm, Ovarian cyst, Fibrous dyspla... |
ORPHA:249 |
Distal Tetrasomy 15Q |
|
Flexion contracture, Hernia, Kyphosis, Camptodactyly, Large for gestational age, Hydrocele testis... |
ORPHA:314588 |
Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, T lymphocytopenia, B lymphoc... |
OMIM:612260 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic fibrosis, Flexion contracture, Kyphosis, Abnormal subcutaneous fat tissue... |
OMIM:212065 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Osteopetrosis, Cranial hyperostosis, Femoral hernia, Facial palsy... |
ORPHA:2658 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... |
ORPHA:760 |
Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Dyspha... |
ORPHA:2070 |
3Mc Syndrome |
|
Hyperlordosis, Diastasis recti, Bilateral cryptorchidism, Caudal appendage, Radioulnar synostosis... |
ORPHA:293843 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... |
OMIM:263520 |
Mucopolysaccharidosis Type 6 |
|
Hernia, Kyphosis, Macroglossia, Failure to thrive, Short neck, Ovoid vertebral bodies, Joint stif... |
ORPHA:583 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Scoliosis, Kyphosis |
ORPHA:101078 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Congenital foot contractures, Kyphosis, Limitation of joint mobility, Scoliosis, Distal amyotrophy |
ORPHA:3454 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Kyphosis, Macronodular adrenal hyperplasia, Decreased circu... |
OMIM:219080 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Vertebral segmentation defect, Short stature, Aplasia of the thymus |
ORPHA:3004 |
Pseudoaminopterin Syndrome |
|
Asplenia, Sagittal craniosynostosis, Sparse scalp hair, Limited elbow movement, Short stature, Fr... |
ORPHA:221120 |
Heart Defects-Limb Shortening Syndrome |
|
Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of ... |
ORPHA:1354 |
Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroiditis, Atypical or pro... |
ORPHA:83471 |
2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Sparse eyebrow, Kyphosis, Hypogonadism, Decreased testicular size, Long ... |
ORPHA:261349 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms, Asplenia |
OMIM:244400 |
Wolcott-Rallison Syndrome |
|
Neutropenia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency ane... |
ORPHA:1667 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
Monosomy 22 |
|
Contractures of the large joints, Synophrys, Hepatosplenomegaly, Hypochromic microcytic anemia, S... |
ORPHA:96123 |
Alg12-Cdg |
|
Abnormal bone ossification, B lymphocytopenia, Camptodactyly, Intrauterine growth retardation, Fa... |
ORPHA:79324 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Kyphosis, Calf muscle hypertrophy, Internally nuc... |
OMIM:618138 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Pedal edema, Acute myeloid leukemia, Abnormal mean co... |
ORPHA:86839 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Abnormality of the ankle, Genu valgum, Hypoplasia of the capital femoral ... |
ORPHA:239 |
Saul-Wilson Syndrome |
|
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... |
OMIM:618150 |
Triosephosphate Isomerase Deficiency |
|
Hemolytic anemia, Kyphosis, Normocytic anemia, Jaundice, Failure to thrive, Chronic hemolytic ane... |
OMIM:615512 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Hyperactivity, Micrognathia, Ivory epiphyses, Hip dislocation, Abnormal finger ... |
OMIM:210600 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrop... |
OMIM:181405 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Short stature, Megaloblastic anemia, Podagra |
OMIM:300322 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Delayed epiphyseal ossification, Abnormal enchondral ossification... |
ORPHA:93314 |
Sjögren-Larsson Syndrome |
|
Short stature, Kyphosis, Scoliosis, Joint stiffness, Abnormal dental enamel morphology |
ORPHA:816 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Kyphosis, Craniofacial hyperostosis, Inguinal hernia, Short neck, Scoliosis, Joint... |
ORPHA:2789 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Arthrogryposis, Distal, Type 5 |
|
Congenital finger flexion contractures, Distal arthrogryposis, Decreased muscle mass, Limited wri... |
OMIM:108145 |
Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Decreased body weight, Increased bone mineral density, Cachexia, Short... |
ORPHA:800 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Flexion contracture, Multiple joint contractures, Absence of labia majora, Anterior clefting of v... |
OMIM:265000 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test... |
ORPHA:293978 |
Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia |
OMIM:164900 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Advanced ossification of carpal bones, Kyphosis, Intrauterine growth retardation, ... |
OMIM:251450 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
Ivic Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno... |
ORPHA:2307 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle ... |
ORPHA:171436 |
Hajdu-Cheney Syndrome |
|
Synophrys, Osteolysis, Short neck, Hepatomegaly, Coarse hair, Thick eyebrow, Splenomegaly, Recurr... |
ORPHA:955 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Secondary amenorrhea, D... |
OMIM:610489 |
X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, Decreased muscle mass, Recurrent fractures, Kyphosis, Short stature, Synophrys, C... |
ORPHA:3063 |
Koolen-De Vries Syndrome |
|
Hypothyroidism, Vertebral fusion, Kyphosis, Short stature, Vertebral segmentation defect, Hypopig... |
ORPHA:96169 |
Sweeney-Cox Syndrome |
|
Asplenia, Bilateral cryptorchidism, Widow's peak, Generalized hirsutism, Low anterior hairline |
OMIM:617746 |
Ciliary Dyskinesia, Primary, 18 |
|
Abdominal situs ambiguus, Absent inner dynein arms, Male infertility, Absent outer dynein arms, I... |
OMIM:614874 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
Cockayne Syndrome B |
|
Dry hair, Splenomegaly, Kyphosis, Small for gestational age, Reduced subcutaneous adipose tissue,... |
OMIM:133540 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Kyphosis, Elbow flexion contracture, Left ventricular hypertrophy, EMG:... |
OMIM:619040 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Abnormal hair pattern, Cryptorchidism, Increased mean corpuscular volume, Th... |
ORPHA:261250 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Kyphosis, Inguinal hernia, Severe short stature, Skeletal muscle atrophy... |
ORPHA:2215 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Hypertrichosis, Synophrys, Scoliosis, Kyphosis |
ORPHA:85317 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lym... |
ORPHA:331206 |
Hurler Syndrome |
|
Biconcave vertebral bodies, Flexion contracture, Hernia, Kyphosis, Short stature, Hypoplasia of t... |
OMIM:607014 |
Acro-Renal-Mandibular Syndrome |
|
Kyphosis, Bicornuate uterus, Butterfly vertebrae, Congenital diaphragmatic hernia, Short neck, Sc... |
ORPHA:958 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Splenomegaly |
ORPHA:86843 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Generalized joint laxity, Kyphosis, Short stature, Small for gestational age, Elbow flexion contr... |
ORPHA:93360 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Severe platyspondyly, T lymphocytopenia, Elbow flexion contracture, Hepatomegaly, Decreased propo... |
ORPHA:508533 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Hepatosplenomegaly, Failure to thrive, Short neck, Hepatomegaly |
OMIM:608776 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Aspartylglucosaminuria |
|
Macroorchidism, Spondylolysis, Hernia, Kyphosis, Short stature, Joint laxity, Pathologic fracture... |
OMIM:208400 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Bruck Syndrome |
|
Recurrent fractures, Kyphosis, Short stature, Osteoporosis, Scoliosis, Platyspondyly, Joint stiff... |
ORPHA:2771 |
Kleefstra Syndrome 2 |
|
Growth delay, Thick eyebrow, Scoliosis, Kyphosis |
OMIM:617768 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Upper limb hypertonia, Joint hyperflexibility, Hypertrichosis, Lower limb hypertonia |
OMIM:614898 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Kyp... |
OMIM:313400 |
Agammaglobulinemia, X-Linked |
|
Septic arthritis, Anemia, T lymphocytopenia, Prostatitis, B lymphocytopenia, Hepatocellular carci... |
OMIM:300755 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Limited elbow movement, Joint contracture of the hand, Kyphosis, Synophrys, Camptodactyly of toe,... |
OMIM:300280 |
Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Short stature, Small for gestational age, Fair hair, H... |
OMIM:610443 |
Proteus Syndrome |
|
Cachexia, Long penis, Testicular neoplasm, Myofibrillar myopathy, Thymus hyperplasia, Splenomegal... |
ORPHA:744 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Growth delay, B lymphocytopenia |
OMIM:614069 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, High anterior hairline, Congenital foot contractures, Kyphosis, Short stature, Cam... |
OMIM:314580 |
Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... |
OMIM:600002 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... |
OMIM:619705 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ... |
OMIM:607155 |
3C Syndrome |
|
Kyphosis, Short stature, Hypoplasia of penis, Inguinal hernia, Hypospadias, Short neck, Scoliosis... |
ORPHA:7 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Kyphosis, Osteolysis, Inguinal hernia, Scoliosis, Beaking of vertebral b... |
ORPHA:137834 |
Mucopolysaccharidosis, Type Iva |
|
Anterior beaking of lumbar vertebrae, Hyperlordosis, Kyphosis, Grayish enamel, Hypoplasia of the ... |
OMIM:253000 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Neonatal death, Polys... |
OMIM:208540 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... |
OMIM:108720 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Flexion contracture, Kyphosis, Short stature, Macroglossia, Hepatosplenome... |
OMIM:309900 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Asplenia, Ambiguous genitalia, female, External genital hypoplasia, Ambi... |
OMIM:249000 |
Cowden Syndrome |
|
Enlarged polycystic ovaries, Adenoma sebaceum, Kyphosis, Short stature, Macroglossia, Abnormality... |
ORPHA:201 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Knee flexion contracture, Rectovaginal fistula, Lymphopenia, Kyphosis |
OMIM:619708 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Short stature, Short neck, Scoliosis, Joint stiffness |
OMIM:252605 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Kyphosis, Short stature, Hypospadias, Scoliosis, Cryptorc... |
ORPHA:568 |
Weismann-Netter Syndrome |
|
Horizontal sacrum, Kyphosis, Severe short stature, Scoliosis, Calvarial hyperostosis |
OMIM:112350 |
Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures,... |
OMIM:259420 |
Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Kyphosis, Short stature, Limitation of joint mobility, Abnormal hair quantity, Short ... |
ORPHA:3098 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Short stature, Hepatitis, Neutropenia in presence of anti-n... |
ORPHA:391487 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Broad eyebrow, Woolly hair, Hirsutism, Cryptorchidism, Highly arched eyebrow, Low anter... |
OMIM:619244 |
Noonan Syndrome 1 |
|
Hypogonadism, Short stature, Amegakaryocytic thrombocytopenia, Synovitis, Woolly hair, Hypospadia... |
OMIM:163950 |
Occipital Horn Syndrome |
|
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... |
ORPHA:198 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis, Cryptorchidism, Highly arched eyebrow, Low anterior hairline |
ORPHA:404440 |
Tetraamelia Syndrome 1 |
|
Urethral atresia, Asplenia, Adrenal gland agenesis, Absent external genitalia, Vaginal atresia, C... |
OMIM:273395 |
Poland Syndrome |
|
Abnormality of the liver, Absence of subcutaneous fat, Kyphosis, Finger symphalangism, Vertebral ... |
ORPHA:2911 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Biliary tract abnormality, Abnormal sternal ossification, Abnormal form of th... |
OMIM:194190 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Synophrys, Long eyelashes, Short neck, Scoliosis, Growth delay, Generalized hirsutism, ... |
ORPHA:238750 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Kyphosis, Brittle hair, Short stature, Scoliosis, Joint contracture of t... |
ORPHA:1883 |
Baralle-Macken Syndrome |
|
Obesity, Hirsutism, Kyphosis |
OMIM:619255 |
Mucolipidosis Type Ii |
|
Hepatosplenomegaly, Splenomegaly, Postnatal growth retardation, Weight loss, Left ventricular hyp... |
ORPHA:576 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Flexion contracture, Hip contracture, Kyphosis, Short stature, Achilles tendon contracture, Limit... |
OMIM:301041 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber predominance, Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Thymu... |
OMIM:619036 |
Mgat2-Cdg |
|
Kyphosis, Long eyelashes, Abnormality of the endocrine system, Impaired lymphocyte transformation... |
ORPHA:79329 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Kyphosis |
OMIM:610743 |
Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Hepatocellular carcinoma, Dorsocervical fat pad, Ol... |
ORPHA:1359 |
Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Kyphosis, Juvenile rheumat... |
ORPHA:1855 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Sparse scalp hair, B lymphocytopenia, Pancytopenia, Bone marro... |
OMIM:620133 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Kyphosis, Spinal rigidity, Laryngotracheomalacia, Short neck, ... |
ORPHA:94068 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... |
ORPHA:1788 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
ORPHA:2442 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly, Panniculitis, Neutropenia |
OMIM:301081 |
Campomelic Dysplasia |
|
Ambiguous genitalia, Tracheobronchomalacia, Recurrent fractures, Kyphosis, Short stature, Poorly ... |
ORPHA:140 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Short statur... |
ORPHA:508542 |
Hemifacial Atrophy, Progressive |
|
Poliosis, Patchy alopecia, Kyphosis |
OMIM:141300 |
Thanatophoric Dysplasia |
|
Kyphosis, Disproportionate short-limb short stature, Joint hyperflexibility, Abnormal sacroiliac ... |
ORPHA:2655 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Kyphosis, Muscular dystrophy, Radioulnar synostosis, Epispadias, Failure... |
ORPHA:2461 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Sparse eyebrow, Sparse scalp hair, Kyphosis, Coronal craniosynostosis,... |
OMIM:603116 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Kyphosis, Atlantoaxial dislocation, Hypoplasia of the odontoid p... |
OMIM:177170 |
Cystinosis, Nephropathic |
|
Weight loss, Short stature, Male hypogonadism, Diabetes mellitus, Delayed puberty, Male infertili... |
OMIM:219800 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Calvarial osteosclerosis, Short stature, Decreased testicular size, Cortical thickening o... |
ORPHA:93325 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long bone, Small hand, Narro... |
OMIM:228520 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hypothyroidism, Asplenia, Cirrhosis, Hyperthyroidism, Alopecia, Hepatitis, Type II diabe... |
OMIM:269200 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Flexion contracture, Multiple joint contractures, Kyphosis, Spina bifida occulta, ... |
OMIM:618291 |
Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, Recurrent fractures, Kyphosis, Short stature, Coronal craniosynostosis... |
OMIM:616294 |
Hypomelanosis Of Ito |
|
Alopecia, Scoliosis, Kyphosis |
OMIM:300337 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short stature, Scoliosis, Kyphosis |
ORPHA:1858 |
Crisponi Syndrome |
|
Camptodactyly of finger, Flexion contracture, Kyphosis, Limitation of joint mobility, Scoliosis |
ORPHA:1545 |
Weaver Syndrome |
|
Diastasis recti, Kyphosis, Joint contracture of the hand, Camptodactyly, Hydrocele testis, Fine h... |
OMIM:277590 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Sacral dimple, Alopecia, Widened atrophic scar, Ventral hernia, Kyphosis, Cellulitis, Joint hyper... |
ORPHA:536532 |
Marshall-Smith Syndrome |
|
Decreased body weight, Synophrys, Atlantoaxial dislocation, Thick eyebrow, Sparse hair, Recurrent... |
OMIM:602535 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Scoliosis, Kyphosis |
ORPHA:99014 |
Meckel Syndrome |
|
Pancreatic cysts, Urethral atresia, Ambiguous genitalia, Asplenia, True hermaphroditism, Male pse... |
ORPHA:564 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Synophrys, Hirsutism, Scoliosis, Kyphosis |
OMIM:300861 |
Steinert Myotonic Dystrophy |
|
Impotence, Secondary hyperparathyroidism, Facial diplegia, Ovarian carcinoma, Distal amyotrophy, ... |
ORPHA:273 |
Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... |
OMIM:164745 |
Achondroplasia |
|
Rhizomelia, Kyphosis, Cervical spinal canal stenosis, Spinal canal stenosis, Disproportionate sho... |
ORPHA:15 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... |
OMIM:615415 |
Mucopolysaccharidosis, Type Ivb |
|
Hyperlordosis, Kyphosis, Grayish enamel, Hypoplasia of the odontoid process, Cervical subluxation... |
OMIM:253010 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, High anterior hairline, Hernia, Kyphosis, Abnormality of the gallbladder, Low post... |
ORPHA:280 |
Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Hypothyroidism, Decreased muscle mass, Kyphosis, Abnormalit... |
ORPHA:349 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Hernia, Kyphosis, Short stature, Grayish enamel, Spinal canal stenosis, Short neck... |
ORPHA:582 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Hepatic steatosis, Horizontal eyebrow, Abnormal eyebrow ... |
ORPHA:1606 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Kyphosis, Delayed calcaneal ossification, Hypoplasia of the odontoid proc... |
OMIM:183900 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, Nodular goiter, Parathyroid hyperplasia, Joint laxity, Pheochromocytoma,... |
OMIM:162300 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Kyphosis, Vertebral segmentation defect, Synostosis of carpal bones, Moderate postnatal... |
ORPHA:1005 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Enamel hypoplasia, Kyphosis, Osteomalacia, Joint contracture of the hand... |
OMIM:309000 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia |
OMIM:165590 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Kyphosis, Large for gestational age, Inguinal hernia, Umbilical hernia |
OMIM:618272 |
Fraser-Like Syndrome |
|
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:229230 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Kyphosis, Short stature, Vertebral segmentation defect, Synophrys, Ingui... |
ORPHA:251014 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Limb hypertonia, Synophrys, Long eyelashes, Hypertrich... |
OMIM:617190 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of the cervical spine, Kyphosis, Birth length less than 3rd percentile, Small for ges... |
ORPHA:464311 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Hyperlordosis, Knee flexion contracture, Rhizomelia, Kyphosis, Camptodac... |
OMIM:618019 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Kyphosis, Short stature, Camptodactyly, Long eyelashes, Clitoral hypoplasia, Short... |
OMIM:616894 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Brittle hair, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the peritoneum, Lymphaden... |
ORPHA:83469 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Inguinal hernia, Hypospadias, Scoliosis, Sparse hair, Clitoral hypertrophy |
OMIM:616449 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Hyperlordosis, Abnormal T cell subset distribution, Reduced natural killer cell count, B lymphocy... |
ORPHA:221139 |
Fountain Syndrome |
|
Kyphosis, Short stature, Synophrys, Coarse metaphyseal trabecularization, Craniofacial hyperostos... |
ORPHA:3219 |
Diffuse Cutaneous Mastocytosis |
|
Lymphocytosis, Abnormality of the spleen, Myeloproliferative disorder |
ORPHA:79456 |
Oculocerebrorenal Syndrome Of Lowe |
|
Thrombocytopenia, Abnormal dental enamel morphology, Diabetes insipidus, Recurrent fractures, Ost... |
ORPHA:534 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Short stature, Cachexia, Scoliosis, Joint stiffness, Failure to thrive in infancy |
ORPHA:702 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Joint hyperflexibility, Scoliosis, Kyphosis |
ORPHA:2181 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Elevated circulating C-reacti... |
OMIM:301074 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Short stature, Premature ovarian insufficiency, Autoimmune ... |
OMIM:251260 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Abnormality of the cervical spine, Multiple joint contractures, Ky... |
ORPHA:464306 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Slender build, Scoliosis, Kyphosis |
OMIM:300676 |
Alexander Disease |
|
Hypothyroidism, Hyperlordosis, Precocious puberty, Kyphosis, Failure to thrive, Diabetes mellitus... |
ORPHA:58 |
Jaberi-Elahi Syndrome |
|
Sparse eyebrow, Kyphosis, Brittle hair, Fine hair, Joint hypermobility, Failure to thrive, Scolio... |
OMIM:617988 |
Dyggve-Melchior-Clausen Disease |
|
Rhizomelic arm shortening, Kyphosis, Thoracic kyphosis, Hypoplasia of the odontoid process, Multi... |
OMIM:223800 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly |
ORPHA:93274 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, Osteomyelitis, T lymphocytopenia, Weight loss, B lymph... |
OMIM:619381 |
Lopes-Maciel-Rodan Syndrome |
|
Scoliosis, Kyphosis |
OMIM:617435 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypothyroidism, Precocious puberty, Pineal cyst, Fair hair, Primary adrenal insufficiency, Slende... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Pineal cyst, Fair hair, Primary adrenal insufficiency, Slende... |
ORPHA:363958 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Short stature, Synophrys, Thick eyebrow, Scolio... |
OMIM:618443 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Massively thickened long bone cortices, Short stature, Increased bone mi... |
ORPHA:1798 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Humeroradial synostosis, Adrenal insufficiency, Decre... |
OMIM:201750 |
Smith-Mccort Dysplasia 1 |
|
Delayed femoral head ossification, Kyphosis, Hypoplasia of the odontoid process, Scoliosis, Platy... |
OMIM:607326 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Short stature, Increased bone mineral density, Ankylosis, Failure ... |
OMIM:239000 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... |
ORPHA:1724 |
Neurofibromatosis Type 1 |
|
Multiple lipomas, Precocious puberty, Recurrent fractures, Kyphosis, Short stature, Pheochromocyt... |
ORPHA:636 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Diastasis recti, Bicornuate uterus, Pulmonary lymphangiectasia, Butterfly vertebrae, Hy... |
OMIM:265380 |
Phocomelia, Schinzel Type |
|
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... |
ORPHA:2879 |
Acromegaly |
|
Impotence, Kyphosis, Anterior hypopituitarism, Synophrys, Spinal canal stenosis, Macroglossia, Lo... |
ORPHA:963 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... |
OMIM:208500 |
Monosomy 9Q22.3 |
|
Kyphosis, Large for gestational age, Short neck, Joint hyperflexibility, Abnormality of the verte... |
ORPHA:77301 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Abnormal vertebral morphology, Annular pancreas |
ORPHA:210122 |
Somatomammotropinoma |
|
Increased circulating prolactin concentration, Impotence, Kyphosis, Anterior hypopituitarism, Syn... |
ORPHA:314769 |
Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hand polydactyly, Hip d... |
OMIM:200980 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
Atypical Rett Syndrome |
|
Growth delay, Scoliosis, Kyphosis |
ORPHA:3095 |
Alg1-Cdg |
|
Limitation of joint mobility, Scoliosis, Kyphosis |
ORPHA:79327 |
Primrose Syndrome |
|
Hypothyroidism, Flexion contracture, Synophrys, Generalized osteoporosis, Absent facial hair, Dis... |
OMIM:259050 |
Cockayne Syndrome |
|
Enamel hypoplasia, Dry hair, Contractures of the large joints, Kyphosis, Limb hypertonia, Reduced... |
ORPHA:191 |
Ramon Syndrome |
|
Decreased body weight, Kyphosis, Juvenile rheumatoid arthritis, Enlarged labia minora, Short stat... |
OMIM:266270 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... |
OMIM:236680 |
Stickler Syndrome, Type I |
|
Kyphosis, Arthritis, Joint stiffness, Joint hypermobility, Spondylolisthesis, Scoliosis, Platyspo... |
OMIM:108300 |
Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
Hereditary Chronic Pancreatitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:676 |
Osteogenesis Imperfecta, Type Viii |
|
Dentinogenesis imperfecta, Recurrent fractures, Kyphosis, Joint laxity, Inguinal hernia, Multiple... |
OMIM:610915 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Hypothyroidism, Premature thelarche, Decreased response to growth hormone stimulat... |
ORPHA:268261 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Knee flexion contracture, High anterior hairline, Hip contracture, Kyphosis, Elbow flexion contra... |
OMIM:619194 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus |
ORPHA:1827 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Camptodactyly of finger, Alopecia, Kyphosis, Vertebral segmentation defect, Synost... |
ORPHA:1507 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Long eyelashes, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal s... |
OMIM:618476 |
Rett Syndrome |
|
Short stature, Kyphosis, Cachexia, Skeletal muscle atrophy, Scoliosis |
OMIM:312750 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Kyphosis, Short stature, Osteopenia, Joint hyperflexibility, Scoliosis |
ORPHA:2479 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Distal amyotrophy, Flexion contracture, Scoliosis, Kyphosis |
OMIM:609541 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Frontal upsweep of hair, Synophrys, Hirsutism, Scoliosis, Scapular winging, Thick eyebr... |
OMIM:617061 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Skeletal muscle atrophy, Scoliosis, Arthrogryposis multiplex congenita, Facial palsy |
OMIM:617143 |
Wrinkly Skin Syndrome |
|
Kyphosis, Short stature, Short nail, Hypoplasia of the musculature, Joint hypermobility, Failure ... |
OMIM:278250 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Intrauterine... |
ORPHA:3384 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Kyphosis, Inguinal hernia, Hypospadias, Contracture of the pro... |
ORPHA:464738 |
Osteogenesis Imperfecta |
|
Flexion contracture, Thrombocytopenia, Abnormal form of the vertebral bodies, Abnormal dental ena... |
ORPHA:666 |
Osteogenesis Imperfecta, Type Iv |
|
Increased susceptibility to fractures, Dentinogenesis imperfecta, Bowing of limbs due to multiple... |
OMIM:166220 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Pineal cyst, Joint laxity, Left ventricular noncompaction, Delayed puberty, Kyphoscolio... |
OMIM:300967 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Kyphosis, Reduced subcutaneous adipose tissue, Scapular ... |
OMIM:616914 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Short stature, Joint hyperflexibility, Scoliosis, Intrauterine gro... |
ORPHA:2050 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Kyphosis, Synophrys, Joint hypermobility, Short neck, Hirsutism, Scoliosis, Promin... |
OMIM:300966 |
Mend Syndrome |
|
Sacral dimple, Limb hypertonia, Kyphosis, Short stature, Failure to thrive, Cryptorchidism |
ORPHA:401973 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Hyperlordosis, Multiple joint contractures, Kyphosis, Torticollis, Scoliosis, Facial palsy |
OMIM:128100 |
Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis |
ORPHA:85193 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular... |
ORPHA:3144 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Thoracic scoliosis, Skeletal muscle atrophy, Kyphosis |
OMIM:603387 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Sparse eyebrow, Kyphosis, Broad eyebrow, Large for gestational age, Limitation of joint mobility,... |
ORPHA:457359 |
Campomelic Dysplasia |
|
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... |
OMIM:114290 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Finger joint hypermobility, Kyphosis, Short stature, Elbow flexion contracture, ... |
OMIM:618493 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Limb hypertonia, Kyphosis |
ORPHA:500180 |
Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Rhizomelia, Kyphosis, Short stature, Abnormality of the gallbladder, Hypopla... |
ORPHA:818 |
Chromosome Xq26.3 Duplication Syndrome |
|
Increased circulating prolactin concentration, Kyphosis, Hypopituitarism, Pituitary adenoma, Incr... |
OMIM:300942 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Short stature, Scoliosis, Kyphosis, Macroglossia |
ORPHA:79107 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Sparse eyebrow, Kyphosis, Thin eyebrow, Inguinal hernia, Hypospadias, Trichiasis |
OMIM:609944 |
Alström Syndrome |
|
Hepatosplenomegaly, Hepatic steatosis, Oligospermia, Frontal balding, Hirsutism, Dorsocervical fa... |
ORPHA:64 |
Coffin-Lowry Syndrome |
|
Kyphosis, Short stature, Craniofacial hyperostosis, Skeletal muscle atrophy, Joint hyperflexibili... |
ORPHA:192 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... |
OMIM:276820 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Eosinophilia |
ORPHA:139402 |
Right Atrial Isomerism |
|
Inguinal hernia, Asplenia, Polysplenia, Abdominal situs ambiguus |
OMIM:208530 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Elevated circulating C-reactive ... |
OMIM:617718 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus |
OMIM:619607 |
Brachyolmia Type 3 |
|
Kyphosis, Childhood-onset short-trunk short stature, Short neck, Scoliosis, Platyspondyly |
OMIM:113500 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Scoliosis, Kyphosis, Macroglossia |
ORPHA:261144 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Low anterior hairline, Kyphosis |
ORPHA:261222 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Scoliosis, Kyphosis |
ORPHA:261190 |
Coffin-Siris Syndrome 1 |
|
Spina bifida occulta, Thick eyebrow, Postnatal growth retardation, Sacral dimple, Lumbosacral hir... |
OMIM:135900 |
Mend Syndrome |
|
Sacral dimple, Short stature, Kyphosis, Failure to thrive, Cryptorchidism |
OMIM:300960 |
Williams Syndrome |
|
Hypothyroidism, Precocious puberty, Functional abnormality of male internal genitalia, Increased ... |
ORPHA:904 |
Thanatophoric Dysplasia Type 1 |
|
Kyphosis, Abnormal sacroiliac joint morphology, Platyspondyly, Lethal short-limbed short stature,... |
ORPHA:1860 |
Pontocerebellar Hypoplasia, Type 17 |
|
Limb hypertonia, Low anterior hairline, Kyphosis, Intrauterine growth retardation |
OMIM:619909 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Short stature, Joint hypermobility, Failure to thrive, Scoliosis, Contracture of the pr... |
OMIM:618050 |
17Q11 Microdeletion Syndrome |
|
Glomus jugular tumor, Precocious puberty, Kyphosis, Short stature, Beaking of vertebral bodies T1... |
ORPHA:97685 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Camptodactyly of finger, Sparse eyebrow, Intervertebral space narrowing, Irregular vertebral endp... |
OMIM:143095 |
Feingold Syndrome 1 |
|
Asplenia, Polysplenia, Accessory spleen, Annular pancreas |
OMIM:164280 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Kyphosis, Spinal rigidity, Joint stiffness, Abnormal intervertebral disk morphology, Scoliosis, A... |
ORPHA:2062 |
Spondyloperipheral Dysplasia |
|
Rhizomelic arm shortening, Rhizomelic leg shortening, Irregular vertebral endplates, Kyphosis, Sh... |
OMIM:271700 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Camptodactyly, Flexion contracture of finger, Scoliosis |
ORPHA:88628 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Alopecia, Kyphosis, Thin eyebrow, Abnormal vertebral morphology, Failure... |
ORPHA:2273 |
Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Severe platyspondyly, Kyphosis... |
OMIM:259770 |
Autosomal Recessive Ataxia, Beauce Type |
|
Lower limb muscle weakness, Skeletal muscle atrophy, Scoliosis, Kyphosis |
ORPHA:88644 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Kyphosis, Hypomimic face, Failure to thrive, Hirsutism, Congeni... |
OMIM:617527 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Scoliosis, Kyphosis, Facial palsy |
OMIM:211530 |
Mowat-Wilson Syndrome |
|
Asplenia, Horizontal eyebrow, Flexion contracture, Decreased body weight, Recurrent fractures, Sh... |
ORPHA:2152 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Short stature, Cachexia, Skeletal muscle atrophy, Scoliosis, Abnormality of the thyroid... |
ORPHA:1969 |
Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Biliary atresia, Absence of the sacrum, Block vertebrae, Polysplenia, Failure to thrive... |
OMIM:306955 |
Zttk Syndrome |
|
Absent gallbladder, Sparse eyebrow, Flexion contracture, Curly hair, Kyphosis, Short stature, Bro... |
OMIM:617140 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Flexion contracture, Short stature, Bifid scrotum, Webbed penis, Broad eyebrow, Camptod... |
ORPHA:261537 |
Trisomy 9P |
|
Sacral dimple, Short neck, Scoliosis, Kyphosis |
ORPHA:236 |
Charge Syndrome |
|
Hand monodactyly, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Down-sloping shoulde... |
OMIM:214800 |
Coffin-Lowry Syndrome |
|
Decreased body weight, Kyphosis, Hyperextensibility of the finger joints, Coarse hair, Short stat... |
OMIM:303600 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Coronal craniosynostosis, Absent eyelashes, Hypospadias, Absent eyebrow, Tarsal synosto... |
ORPHA:85199 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Synophrys, Broad eyebrow, Hepatic steatosis, Thick eyebrow, Osteomyelitis,... |
OMIM:619475 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Hyperextensibility of the finger joints, Kyphosis, Atrophic scars, Joint hypermobi... |
OMIM:617821 |
Cockayne Syndrome Type 3 |
|
Enamel hypoplasia, Dry hair, Flexion contracture, Kyphosis, Premature graying of hair, Mild postn... |
ORPHA:90324 |
Sotos Syndrome |
|
Hypothyroidism, Flexion contracture, Congenital posterior urethral valve, Acute lymphoblastic leu... |
ORPHA:821 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Scoliosis, Kyphosis |
OMIM:609008 |
Cystic Fibrosis |
|
Biliary cirrhosis, Cirrhosis, Hepatosplenomegaly, Failure to thrive, Male infertility, Hepatomega... |
OMIM:219700 |
Branchiooculofacial Syndrome |
|
Hyperlordosis, Fusion of middle ear ossicles, Ectopic thymus tissue, Kyphosis, Premature graying ... |
OMIM:113620 |
Holt-Oram Syndrome |
|
Joint stiffness, Radioulnar synostosis, Scoliosis, Kyphosis |
ORPHA:392 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... |
OMIM:304120 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia, Short stature |
OMIM:619657 |
Plaa-Associated Neurodevelopmental Disorder |
|
Contractures of the large joints, Hyperextensibility of the finger joints, Kyphosis, Limb hyperto... |
ORPHA:521426 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Anterior concavity of thoracic vertebrae, Camptodactyly, Kyphoscoliosis, Cortical irreg... |
OMIM:249420 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Polysplenia, Abdominal situs inversus |
OMIM:605376 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Flexion contracture, Short stature, Bifid scrotum, Webbed penis, Broad eyebrow, Camptod... |
ORPHA:261552 |
Alkaptonuria |
|
Vertebral fusion, Thickened Achilles tendon, Kyphosis, Low back pain, Arthritis, Limited hip move... |
OMIM:203500 |
Cranioectodermal Dysplasia 1 |
|
Short toe, Rhizomelia, Short ribs, Clinodactyly, Short humerus, Radial deviation of finger, Flatt... |
OMIM:218330 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Short nail, Failure to thrive, Short neck, Scoliosis |
ORPHA:420794 |
Kikuchi-Fujimoto Disease |
|
Leukopenia, Anemia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Thrombo... |
ORPHA:50918 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Bilateral camptodactyly, Short stature, Kyphosis, Synophrys, Scoliosis, Growth delay |
OMIM:619557 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Synophrys, Scoliosis, Kyphosis |
ORPHA:476126 |
Marfan Syndrome |
|
Limited elbow movement, Kyphosis, Cachexia, Joint hypermobility, Osteoporosis, Spondylolisthesis,... |
ORPHA:558 |
Stickler Syndrome |
|
Kyphosis, Short stature, Osteoarthritis, Cachexia, Spinal canal stenosis, Macroglossia, Abnormal ... |
ORPHA:828 |
Classic Homocystinuria |
|
Sparse scalp hair, Hernia, Recurrent fractures, Kyphosis, Scoliosis, Hepatomegaly, Joint stiffnes... |
ORPHA:394 |
Liver Disease, Severe Congenital |
|
Leukopenia, Anemia, Hyperalaninemia, Micrognathia, Hyperbilirubinemia, Elevated hepatic iron conc... |
OMIM:619991 |
Cleidocranial Dysplasia 1 |
|
Increased susceptibility to fractures, Spondylolysis, Enamel hypoplasia, Moderately short stature... |
OMIM:119600 |
Occipital Horn Syndrome |
|
Pili torti, Capitate-hamate fusion, Kyphosis, Coarse hair, Joint laxity, Platyspondyly, Limited k... |
OMIM:304150 |
Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Recurrent fractures, Kyphosis, Abnormal cortical bone morp... |
ORPHA:2769 |
Postencephalitic Parkinsonism |
|
Camptocormia, Kyphosis |
ORPHA:97349 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Oligoarthritis, Back pain, Kyphosis, Hip osteoarthritis, Enthesitis |
OMIM:106300 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hyperlordosis, Sparse eyebrow, Kyphosis, Joint laxity, Large for gestational age, Scoliosis |
OMIM:617011 |
Yunis-Varon Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Kyphosis, Birth length less than 3rd percentile, Small for ges... |
OMIM:216340 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Abdominal situs ambiguus, Absence of the sacrum, Abdominal situs inversus, Intrauterine... |
OMIM:270100 |
Shprintzen Omphalocele Syndrome |
|
Decreased body weight, Kyphosis, Short stature, Scoliosis, Omphalocele, Lumbar hyperlordosis |
OMIM:182210 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, Kyphosis |
OMIM:177850 |
Viss Syndrome |
|
Hypereosinophilia, Hypothyroidism, Alopecia, Sparse scalp hair, Generalized joint laxity, Kyphosi... |
OMIM:619472 |
Rett Syndrome, Congenital Variant |
|
Scoliosis, Kyphosis |
OMIM:613454 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Lymphedema-Distichiasis Syndrome |
|
Distichiasis, Yellow nails, Kyphosis, Cellulitis |
OMIM:153400 |
Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Short stature, Intrauterine growth retardation, Kyphosis |
ORPHA:1393 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Foot dorsiflexor weakness, Kyphosis, Lower limb hypertonia |
ORPHA:171629 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T11, Kyphosis, Hypoplasia of the odontoid process, Delayed ossification of ca... |
OMIM:300106 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Scoliosis, Kyphosis |
OMIM:619482 |
Ewing Sarcoma |
|
|
OMIM:612219 |