Sanjad-Sakati syndrome
ORPHA:2323Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)22
HP:0000358Posteriorly rotated ears
HP:0000377Abnormal pinna morphology
HP:0000233Thin vermilion border
HP:0000252Microcephaly
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000444Convex nasal ridge
HP:0000490Deeply set eye
HP:0000829Hypoparathyroidism
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001773Short foot
HP:0002750Delayed skeletal maturation
HP:0002901Hypocalcemia
HP:0002905Hyperphosphatemia
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0008198Congenital hypoparathyroidism
HP:0008846Severe intrauterine growth retardation
HP:0008897Postnatal growth retardation
HP:0200055Small hand
Частый (30–79%)3
HP:0000164Abnormality of the dentition
HP:0000682Abnormality of dental enamel
HP:0002205Recurrent respiratory infections
Периодический (5–29%)11
HP:0000028Cryptorchidism
HP:0000483Astigmatism
HP:0002119Ventriculomegaly
HP:0003198Myopathy
HP:0003416Spinal canal stenosis
HP:0005214Intestinal obstruction
HP:0005374Cellular immunodeficiency
HP:0005686Patchy osteosclerosis
HP:0007957Corneal opacity
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0008736Hypoplasia of penis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)