Proximal 16p11.2 microduplication syndrome
ORPHA:370079Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)38
Очень частый (80–99%)21
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000490Deeply set eye
HP:0000653Sparse eyelashes
HP:0000750Delayed speech and language development
HP:0001166Arachnodactyly
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001265Hyporeflexia
HP:0001270Motor delay
HP:0001337Tremor
HP:0001508Failure to thrive
HP:0004322Short stature
HP:0008551Microtia
HP:0009088Speech articulation difficulties
HP:0012368Flat face
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0045075Sparse eyebrow
HP:0045082Decreased body mass index
Частый (30–79%)6
HP:0000722Compulsive behaviors
HP:0000729Autistic behavior
HP:0000739Anxiety
HP:0001263Global developmental delay
HP:0007018Attention deficit hyperactivity disorder
HP:0030800Abnormal visual accommodation
Периодический (5–29%)9
HP:0000717Autism
HP:0000776Congenital diaphragmatic hernia
HP:0001250Seizure
HP:0002007Frontal bossing
HP:0002650Scoliosis
HP:0007302Bipolar affective disorder
HP:0009553Abnormality of the hairline
HP:0009891Underdeveloped supraorbital ridges
HP:0100753Schizophrenia
Очень редкий (1–4%)2
HP:0000054Micropenis
HP:0002937Hemivertebrae
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 21 | 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)