Mosaic monosomy X syndrome
ORPHA:99228Etiological subtypeNot applicableAntenatal, Childhood, Infancy, Neonatal
Фенотипы (HPO)113
Очень частый (80–99%)21
HP:0000137Abnormality of the ovary
HP:0000470Short neck
HP:0000823Delayed puberty
HP:0000837Increased circulating gonadotropin level
HP:0000879Short sternum
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0002750Delayed skeletal maturation
HP:0002967Cubitus valgus
HP:0003492High urinary gonadotropins (primary hypogonadism)
HP:0004322Short stature
HP:0006610Wide intermamillary distance
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0008209Premature ovarian insufficiency
HP:0008222Female infertility
HP:0008897Postnatal growth retardation
HP:0012774Increased upper to lower segment ratio
HP:0040072Abnormal forearm bone morphology
HP:0100625Enlarged thorax
Частый (30–79%)37
HP:0000218High palate
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000403Recurrent otitis media
HP:0000465Webbed neck
HP:0000474Thickened nuchal skin fold
HP:0000475Broad neck
HP:0000708Atypical behavior
HP:0000739Anxiety
HP:0000758Impaired use of nonverbal behaviors
HP:0000786Primary amenorrhea
HP:0000822Hypertension
HP:0000869Secondary amenorrhea
HP:0000872Hashimoto thyroiditis
HP:0000914Shield chest
HP:0001328Specific learning disability
HP:0001397Hepatic steatosis
HP:0001513Obesity
HP:0001531Failure to thrive in infancy
HP:0001800Hypoplastic toenails
HP:0001952Glucose intolerance
HP:0002162Low posterior hairline
HP:0002705High, narrow palate
HP:0002808Kyphosis
HP:0002857Genu valgum
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0005113Dilatation of the aortic arch
HP:0005689Dermatoglyphic ridges abnormal
HP:0006438Enlargement of the distal femoral epiphysis
HP:0006456Irregular proximal tibial epiphyses
HP:0007477Abnormal dermatoglyphics
HP:0009759Neck pterygia
HP:0010044Short 4th metacarpal
HP:0010047Short 5th metacarpal
HP:0010510Hypermobility of toe joints
Периодический (5–29%)43
HP:0000377Abnormal pinna morphology
HP:0000085Horseshoe kidney
HP:0000086Ectopic kidney
HP:0000164Abnormality of the dentition
HP:0000286Epicanthus
HP:0000476Cystic hygroma
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000545Myopia
HP:0000716Depression
HP:0000767Pectus excavatum
HP:0000842Hyperinsulinemia
HP:0000987Atypical scarring of skin
HP:0000995Melanocytic nevus
HP:0001004Lymphedema
HP:0001045Vitiligo
HP:0001231Abnormal fingernail morphology
HP:0001385Hip dysplasia
HP:0001395Hepatic fibrosis
HP:0001596Alopecia
HP:0001631Atrial septal defect
HP:0001647Bicuspid aortic valve
HP:0001657Prolonged QT interval
HP:0001658Myocardial infarction
HP:0001680Coarctation of aorta
HP:0001763Pes planus
HP:0001812Hyperconvex fingernails
HP:0001831Short toe
HP:0002608Celiac disease
HP:0002611Cholestatic liver disease
HP:0002650Scoliosis
HP:0002960Autoimmunity
HP:0003067Madelung deformity
HP:0003186Inverted nipples
HP:0003764Nevus
HP:0004349Reduced bone mineral density
HP:0005603Numerous congenital melanocytic nevi
HP:0005978Type II diabetes mellitus
HP:0007018Attention deficit hyperactivity disorder
HP:0009118Aplasia/Hypoplasia of the mandible
HP:0011307Splayed toes
HP:0012434Delayed social development
HP:0100646Thyroiditis
Очень редкий (1–4%)12
HP:0005294Arterial dissection
HP:0008678Renal hypoplasia/aplasia
HP:0012758Neurodevelopmental delay
HP:0000150Gonadoblastoma
HP:0000471Gastrointestinal angiodysplasia
HP:0001394Cirrhosis
HP:0002037Inflammation of the large intestine
HP:0002613Biliary cirrhosis
HP:0002647Aortic dissection
HP:0002861Melanoma
HP:0004383Hypoplastic left heart
HP:0004386Gastrointestinal inflammation
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)