Prominent glabella-microcephaly-hypogenitalism syndrome
ORPHA:2083Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)31
Очень частый (80–99%)22
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000252Microcephaly
HP:0000268Dolichocephaly
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000396Overfolded helix
HP:0000400Macrotia
HP:0000426Prominent nasal bridge
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0002057Prominent glabella
HP:0002553Highly arched eyebrow
HP:0003196Short nose
HP:0006610Wide intermamillary distance
HP:0008736Hypoplasia of penis
HP:0010720Abnormal hair pattern
HP:0012745Short palpebral fissure
HP:0100543Cognitive impairment
Частый (30–79%)9
HP:0000126Hydronephrosis
HP:0000430Underdeveloped nasal alae
HP:0000470Short neck
HP:0000474Thickened nuchal skin fold
HP:0001156Brachydactyly
HP:0001608Abnormality of the voice
HP:0002119Ventriculomegaly
HP:0007598Bilateral single transverse palmar creases
HP:0100490Camptodactyly of finger
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)