Lissencephaly type 3-metacarpal bone dysplasia syndrome
ORPHA:86822Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)23
Облигатный (100%)2
HP:0001511Intrauterine growth retardation
HP:0001561Polyhydramnios
Очень частый (80–99%)21
HP:0000252Microcephaly
HP:0000282Facial edema
HP:0001302Pachygyria
HP:0001321Cerebellar hypoplasia
HP:0001338Partial agenesis of the corpus callosum
HP:0001339Lissencephaly
HP:0001762Talipes equinovarus
HP:0002089Pulmonary hypoplasia
HP:0002134Abnormality of the basal ganglia
HP:0002365Hypoplasia of the brainstem
HP:0002804Arthrogryposis multiplex congenita
HP:0003330Abnormal bone structure
HP:0003405Diffuse axonal swelling
HP:0006827Atrophy of the spinal cord
HP:0006872Cerebral hypoplasia
HP:0007190Neuronal loss in the cerebral cortex
HP:0008178Abnormal cartilage matrix
HP:0009882Short distal phalanx of finger
HP:0010049Short metacarpal
HP:0010655Epiphyseal stippling
HP:0012697Small basal ganglia
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)