Distal monosomy 7q36 syndrome
ORPHA:1636Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)16
HP:0000252Microcephaly
HP:0000293Full cheeks
HP:0000347Micrognathia
HP:0000414Bulbous nose
HP:0000470Short neck
HP:0000582Upslanted palpebral fissure
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0002683Abnormality of the calvaria
HP:0004322Short stature
HP:0006889Intellectual disability, borderline
HP:0007598Bilateral single transverse palmar creases
HP:0008736Hypoplasia of penis
HP:0010978Abnormality of immune system physiology
HP:0012368Flat face
HP:0100729Large face
Частый (30–79%)8
HP:0000028Cryptorchidism
HP:0000154Wide mouth
HP:0000175Cleft palate
HP:0000400Macrotia
HP:0000486Strabismus
HP:0001250Seizure
HP:0001360Holoprosencephaly
HP:0100335Non-midline cleft of the upper lip
Периодический (5–29%)6
HP:0000648Optic atrophy
HP:0000767Pectus excavatum
HP:0004209Clinodactyly of the 5th finger
HP:0006610Wide intermamillary distance
HP:0009773Symphalangism affecting the phalanges of the hand
HP:0100790Hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)