X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
ORPHA:2958Malformation syndromeX-linked recessiveChildhood
Фенотипы (HPO)23
Частый (30–79%)23
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000369Low-set ears
HP:0000448Prominent nose
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000639Nystagmus
HP:0000939Osteoporosis
HP:0001098Abnormal fundus morphology
HP:0001249Intellectual disability
HP:0001290Generalized hypotonia
HP:0001776Bilateral talipes equinovarus
HP:0002059Cerebral atrophy
HP:0002673Coxa valga
HP:0005815Supernumerary ribs
HP:0010499Patellar subluxation
HP:0010781Skin dimple
HP:0011064Abnormal number of incisors
HP:0040019Finger clinodactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)