Alazami syndrome
ORPHA:319671Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)6
HP:0000154Wide mouth
HP:0000445Wide nose
HP:0000490Deeply set eye
HP:0000687Widely spaced teeth
HP:0008897Postnatal growth retardation
HP:0010864Intellectual disability, severe
Частый (30–79%)14
HP:0000272Malar flattening
HP:0000322Short philtrum
HP:0000325Triangular face
HP:0000369Low-set ears
HP:0000733Abnormal repetitive mannerisms
HP:0000739Anxiety
HP:0000965Cutis marmorata
HP:0001072Thickened skin
HP:0012471Thick vermilion border
HP:0012745Short palpebral fissure
HP:0040196Mild microcephaly
HP:0045025Narrow palpebral fissure
HP:0045075Sparse eyebrow
HP:0100738Abnormal eating behavior
Периодический (5–29%)11
HP:0000315Abnormality of the orbital region
HP:0000486Strabismus
HP:0000742Self-mutilation
HP:0001250Seizure
HP:0001631Atrial septal defect
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0003100Slender long bone
HP:0010535Sleep apnea
HP:0011220Prominent forehead
HP:0012171Stereotypical hand wringing
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)