Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
ORPHA:397973DiseaseAutosomal recessiveNeonatal
Фенотипы (HPO)27
Частый (30–79%)13
HP:0000303Mandibular prognathia
HP:0000327Hypoplasia of the maxilla
HP:0000484Hyperopic astigmatism
HP:0000508Ptosis
HP:0000565Esotropia
HP:0000581Blepharophimosis
HP:0001047Atopic dermatitis
HP:0001256Intellectual disability, mild
HP:0001513Obesity
HP:0001822Hallux valgus
HP:0006333Crowded maxillary incisors
HP:0006897Abducens palsy
HP:0010164Cone-shaped epiphyses of the toes
Периодический (5–29%)14
HP:0000256Macrocephaly
HP:0000486Strabismus
HP:0000506Telecanthus
HP:0000729Autistic behavior
HP:0000752Hyperactivity
HP:0001609Hoarse voice
HP:0002187Intellectual disability, profound
HP:0002690Large sella turcica
HP:0007663Reduced visual acuity
HP:0011344Severe global developmental delay
HP:0100046Cone-shaped epiphyses of the 2nd toe
HP:0100057Cone-shaped epiphyses of the 3rd toe
HP:0100068Cone-shaped epiphyses of the 4th toe
HP:0100271Hyponasal speech
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)