Borjeson-Forssman-Lehmann syndrome
ORPHA:127Malformation syndromeX-linked recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)16
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000135Hypogonadism
HP:0000280Coarse facial features
HP:0000771Gynecomastia
HP:0001182Tapered finger
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001769Broad foot
HP:0001831Short toe
HP:0001836Camptodactyly of toe
HP:0001956Truncal obesity
HP:0008070Sparse hair
HP:0008734Decreased testicular size
HP:0008736Hypoplasia of penis
HP:0009748Large earlobe
Частый (30–79%)6
HP:0000336Prominent supraorbital ridges
HP:0000490Deeply set eye
HP:0000508Ptosis
HP:0000574Thick eyebrow
HP:0000581Blepharophimosis
HP:0008872Feeding difficulties in infancy
Периодический (5–29%)12
HP:0001382Joint hypermobility
HP:0000202Orofacial cleft
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000365Hearing impairment
HP:0000518Cataract
HP:0000639Nystagmus
HP:0001250Seizure
HP:0003202Skeletal muscle atrophy
HP:0003272Abnormality of the hip bone
HP:0004322Short stature
HP:0009830Peripheral neuropathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)