X-linked intellectual disability, Armfield type
ORPHA:85276Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)38
Очень частый (80–99%)11
HP:0000286Epicanthus
HP:0000337Broad forehead
HP:0000347Micrognathia
HP:0000494Downslanted palpebral fissures
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001773Short foot
HP:0002342Intellectual disability, moderate
HP:0004322Short stature
HP:0010864Intellectual disability, severe
HP:0200055Small hand
Частый (30–79%)7
HP:0000023Inguinal hernia
HP:0000175Cleft palate
HP:0000322Short philtrum
HP:0000400Macrotia
HP:0000501Glaucoma
HP:0000518Cataract
HP:0011800Midface retrusion
Периодический (5–29%)20
HP:0000028Cryptorchidism
HP:0000154Wide mouth
HP:0000248Brachycephaly
HP:0000256Macrocephaly
HP:0000303Mandibular prognathia
HP:0000486Strabismus
HP:0000996Facial capillary hemangioma
HP:0001377Limited elbow extension
HP:0001643Patent ductus arteriosus
HP:0001671Abnormal cardiac septum morphology
HP:0001992Organic aciduria
HP:0002120Cerebral cortical atrophy
HP:0002714Downturned corners of mouth
HP:0003355Aminoaciduria
HP:0005280Depressed nasal bridge
HP:0005306Capillary hemangioma
HP:0007413Nevus flammeus of the forehead
HP:0009811Abnormality of the elbow
HP:0012023Galactosuria
HP:0400004Long ear
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)