Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
ORPHA:293967Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Фенотипы (HPO)47
Очень частый (80–99%)35
HP:0000028Cryptorchidism
HP:0000044Hypogonadotropic hypogonadism
HP:0000054Micropenis
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000411Protruding ear
HP:0000444Convex nasal ridge
HP:0000545Myopia
HP:0001263Global developmental delay
HP:0000771Gynecomastia
HP:0000786Primary amenorrhea
HP:0000823Delayed puberty
HP:0000912Sprengel anomaly
HP:0001123Visual field defect
HP:0001250Seizure
HP:0001270Motor delay
HP:0001328Specific learning disability
HP:0004322Short stature
HP:0001562Oligohydramnios
HP:0001935Microcytic anemia
HP:0002553Highly arched eyebrow
HP:0002750Delayed skeletal maturation
HP:0010055Broad hallux
HP:0008527Congenital sensorineural hearing impairment
HP:0003799Marked delay in bone age
HP:0007642Congenital stationary night blindness
HP:0008734Decreased testicular size
HP:0008850Severe postnatal growth retardation
HP:0011246Underdeveloped superior crus of antihelix
HP:0011343Moderate global developmental delay
HP:0011408Moderate intrauterine growth retardation
HP:0011968Feeding difficulties
HP:0012795Abnormality of the optic disc
HP:0100689Decreased corneal thickness
Частый (30–79%)9
HP:0000193Bifid uvula
HP:0000831Insulin-resistant diabetes mellitus
HP:0001276Hypertonia
HP:0001761Pes cavus
HP:0001845Overlapping toe
HP:0002857Genu valgum
HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger
HP:0007266Cerebral dysmyelination
HP:0011304Broad thumb
Периодический (5–29%)3
HP:0001007Hirsutism
HP:0002061Lower limb spasticity
HP:0006353Hypoplasia of the tooth germ
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)