Intellectual disability, Wolff type
ORPHA:3080Malformation syndromeNeonatal
Фенотипы (HPO)29
Очень частый (80–99%)16
HP:0000047Hypospadias
HP:0000179Thick lower lip vermilion
HP:0000308Microretrognathia
HP:0000316Hypertelorism
HP:0000400Macrotia
HP:0000414Bulbous nose
HP:0000431Wide nasal bridge
HP:0000582Upslanted palpebral fissure
HP:0001176Large hands
HP:0001376Limitation of joint mobility
HP:0002162Low posterior hairline
HP:0002750Delayed skeletal maturation
HP:0009882Short distal phalanx of finger
HP:0010864Intellectual disability, severe
HP:0011344Severe global developmental delay
HP:0100490Camptodactyly of finger
Частый (30–79%)13
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000202Orofacial cleft
HP:0000340Sloping forehead
HP:0000486Strabismus
HP:0001250Seizure
HP:0001597Abnormality of the nail
HP:0002242Abnormal intestine morphology
HP:0002650Scoliosis
HP:0004209Clinodactyly of the 5th finger
HP:0008559Hypoplastic superior helix
HP:0011304Broad thumb
HP:0100335Non-midline cleft of the upper lip
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)