9p13 microdeletion syndrome
ORPHA:324313Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)32
Очень частый (80–99%)8
HP:0000308Microretrognathia
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000708Atypical behavior
HP:0001336Myoclonus
HP:0003763Bruxism
HP:0007018Attention deficit hyperactivity disorder
HP:0011342Mild global developmental delay
Частый (30–79%)6
HP:0004322Short stature
HP:0000248Brachycephaly
HP:0000369Low-set ears
HP:0000565Esotropia
HP:0002378Hand tremor
HP:3000022Abnormality of cartilage of external ear
Периодический (5–29%)18
HP:0000218High palate
HP:0000286Epicanthus
HP:0000403Recurrent otitis media
HP:0000540Hypermetropia
HP:0000574Thick eyebrow
HP:0000826Precocious puberty
HP:0000957Cafe-au-lait spot
HP:0000958Dry skin
HP:0001387Joint stiffness
HP:0001537Umbilical hernia
HP:0001795Hyperconvex nail
HP:0001800Hypoplastic toenails
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0003241External genital hypoplasia
HP:0004209Clinodactyly of the 5th finger
HP:0010489Absent palmar crease
HP:0011330Metopic synostosis
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)