Distal Xq28 microduplication syndrome
ORPHA:293939Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)43
Очень частый (80–99%)38
HP:0000200Short lingual frenulum
HP:0000179Thick lower lip vermilion
HP:0000194Open mouth
HP:0000218High palate
HP:0000252Microcephaly
HP:0000327Hypoplasia of the maxilla
HP:0000348High forehead
HP:0000421Epistaxis
HP:0000455Broad nasal tip
HP:0000490Deeply set eye
HP:0000678Dental crowding
HP:0000716Depression
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000739Anxiety
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0000817Reduced eye contact
HP:0001249Intellectual disability
HP:0004322Short stature
HP:0001643Patent ductus arteriosus
HP:0001655Patent foramen ovale
HP:0001840Metatarsus adductus
HP:0002099Asthma
HP:0002829Arthralgia
HP:0002788Recurrent upper respiratory tract infections
HP:0003265Neonatal hyperbilirubinemia
HP:0003324Generalized muscle weakness
HP:0007018Attention deficit hyperactivity disorder
HP:0008551Microtia
HP:0010862Delayed fine motor development
HP:0011234Absent antihelix
HP:0011730Abnormality of central sensory function
HP:0012172Stereotypical body rocking
HP:0030051Tip-toe gait
HP:0012724Upper eyelid edema
HP:0100710Impulsivity
HP:0100840Aplasia/Hypoplasia of the eyebrow
Частый (30–79%)3
HP:0003550Predominantly lower limb lymphedema
HP:0012169Self-biting
HP:0030084Clinodactyly
Периодический (5–29%)2
HP:0000821Hypothyroidism
HP:0000957Cafe-au-lait spot
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)