Zellweger-like syndrome without peroxisomal anomalies
ORPHA:50812DiseaseAutosomal recessive, Mitochondrial inheritanceChildhood
Фенотипы (HPO)22
Очень частый (80–99%)15
HP:0000218High palate
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000298Mask-like facies
HP:0000307Pointed chin
HP:0000348High forehead
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000582Upslanted palpebral fissure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001265Hyporeflexia
HP:0002007Frontal bossing
HP:0007598Bilateral single transverse palmar creases
HP:0010864Intellectual disability, severe
Частый (30–79%)7
HP:0000953Hyperpigmentation of the skin
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001596Alopecia
HP:0002240Hepatomegaly
HP:0002299Brittle hair
HP:0004322Short stature
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)