Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
ORPHA:391307Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)4
HP:0000252Microcephaly
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0010864Intellectual disability, severe
Частый (30–79%)8
HP:0000708Atypical behavior
HP:0000718Aggressive behavior
HP:0000733Abnormal repetitive mannerisms
HP:0000750Delayed speech and language development
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0002751Kyphoscoliosis
HP:0004322Short stature
Периодический (5–29%)17
HP:0000164Abnormality of the dentition
HP:0000233Thin vermilion border
HP:0000340Sloping forehead
HP:0000400Macrotia
HP:0000448Prominent nose
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000664Synophrys
HP:0000737Irritability
HP:0000752Hyperactivity
HP:0001888Lymphopenia
HP:0002079Hypoplasia of the corpus callosum
HP:0002342Intellectual disability, moderate
HP:0002486Myotonia
HP:0002500Abnormal cerebral white matter morphology
HP:00046912-3 toe syndactyly
HP:0008209Premature ovarian insufficiency
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)