Microlissencephaly-micromelia syndrome
ORPHA:50810Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)21
HP:0000343Long philtrum
HP:0000470Short neck
HP:000087811 pairs of ribs
HP:0001181Adducted thumb
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001284Areflexia
HP:0001321Cerebellar hypoplasia
HP:0001339Lissencephaly
HP:0001508Failure to thrive
HP:0001561Polyhydramnios
HP:0002098Respiratory distress
HP:0002353EEG abnormality
HP:0002983Micromelia
HP:0003196Short nose
HP:0004554Generalized hypertrichosis
HP:0005484Secondary microcephaly
HP:0007598Bilateral single transverse palmar creases
HP:0010945Fetal pyelectasis
HP:0100540Palpebral edema
HP:0000280Coarse facial features
Частый (30–79%)4
HP:0000829Hypoparathyroidism
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0100530Abnormality of calcium-phosphate metabolism
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)