Chondrodysplasia-difference of sex development syndrome
ORPHA:1422Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)22
Очень частый (80–99%)14
HP:0000252Microcephaly
HP:0000400Macrotia
HP:0000506Telecanthus
HP:0000774Narrow chest
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002983Micromelia
HP:0003043Abnormality of the shoulder
HP:0003510Severe short stature
HP:0004330Increased skull ossification
HP:0005622Broad long bones
HP:0009803Short phalanx of finger
HP:0010049Short metacarpal
Частый (30–79%)8
HP:0000037Male pseudohermaphroditism
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000567Chorioretinal coloboma
HP:0000581Blepharophimosis
HP:0000616Miosis
HP:0006872Cerebral hypoplasia
HP:0007676Hypoplasia of the iris
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)