Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
ORPHA:357175Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)25
Частый (30–79%)21
HP:0000219Thin upper lip vermilion
HP:0000232Everted lower lip vermilion
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000445Wide nose
HP:0000664Synophrys
HP:0000924Abnormality of the skeletal system
HP:0001007Hirsutism
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0003022Hypoplasia of the ulna
HP:0004325Decreased body weight
HP:0005469Flat occiput
HP:0008551Microtia
HP:0009928Thick nasal alae
HP:0030084Clinodactyly
Периодический (5–29%)4
HP:0000337Broad forehead
HP:0000494Downslanted palpebral fissures
HP:0002342Intellectual disability, moderate
HP:0010864Intellectual disability, severe
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)