Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ORPHA:98791Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)32
Очень частый (80–99%)5
HP:0001249Intellectual disability
HP:0001935Microcytic anemia
HP:0002167Abnormality of speech or vocalization
HP:0011903HbH hemoglobin
HP:0012378Fatigue
Частый (30–79%)22
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000252Microcephaly
HP:0000272Malar flattening
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000768Pectus carinatum
HP:0000978Bruising susceptibility
HP:0001252Hypotonia
HP:0001508Failure to thrive
HP:0001762Talipes equinovarus
HP:0001831Short toe
HP:0004322Short stature
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0000358Posteriorly rotated ears
Периодический (5–29%)5
HP:0000047Hypospadias
HP:0001371Flexion contracture
HP:0002007Frontal bossing
HP:0009891Underdeveloped supraorbital ridges
HP:0100840Aplasia/Hypoplasia of the eyebrow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)