Microcephalic primordial dwarfism, Dauber type
ORPHA:319675Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)22
Частый (30–79%)22
HP:0000252Microcephaly
HP:0000448Prominent nose
HP:0000601Hypotelorism
HP:0000786Primary amenorrhea
HP:0001191Abnormal carpal morphology
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001385Hip dysplasia
HP:0001513Obesity
HP:0001607Subglottic stenosis
HP:0002750Delayed skeletal maturation
HP:0003067Madelung deformity
HP:0004209Clinodactyly of the 5th finger
HP:0004220Short middle phalanx of the 5th finger
HP:0004322Short stature
HP:0004626Lumbar scoliosis
HP:0008551Microtia
HP:0008846Severe intrauterine growth retardation
HP:0008850Severe postnatal growth retardation
HP:0009826Limb undergrowth
HP:0010864Intellectual disability, severe
HP:0012814Bilateral breast hypoplasia
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)