Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
ORPHA:3044Malformation syndromeUnknownChildhood
Фенотипы (HPO)22
Очень частый (80–99%)16
HP:0000276Long face
HP:0000303Mandibular prognathia
HP:0000445Wide nose
HP:0000490Deeply set eye
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0002225Sparse pubic hair
HP:0002342Intellectual disability, moderate
HP:0003191Cleft ala nasi
HP:0003782Eunuchoid habitus
HP:0008232Elevated circulating follicle stimulating hormone level
HP:0008734Decreased testicular size
HP:0011969Elevated circulating luteinizing hormone level
HP:0012809Narrow nasal base
HP:0040171Decreased serum testosterone concentration
HP:0100651Type I diabetes mellitus
Частый (30–79%)3
HP:0002069Bilateral tonic-clonic seizure
HP:0008947Floppy infant
HP:0100783Breast aplasia
Периодический (5–29%)3
HP:0000327Hypoplasia of the maxilla
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0008988Pelvic girdle muscle atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)