TMEM70-related mitochondrial encephalo-cardio-myopathy
ORPHA:1194DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)10
HP:0000252Microcephaly
HP:0000322Short philtrum
HP:0000369Low-set ears
HP:0001252Hypotonia
HP:0001562Oligohydramnios
HP:0001987Hyperammonemia
HP:0002342Intellectual disability, moderate
HP:0002383Infectious encephalitis
HP:00035353-Methylglutaconic aciduria
HP:0011343Moderate global developmental delay
Частый (30–79%)17
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000154Wide mouth
HP:0000278Retrognathia
HP:0001371Flexion contracture
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001522Death in infancy
HP:0001635Congestive heart failure
HP:0001639Hypertrophic cardiomyopathy
HP:0001641Abnormal pulmonary valve morphology
HP:0001646Abnormal aortic valve morphology
HP:0002120Cerebral cortical atrophy
HP:0002240Hepatomegaly
HP:0002878Respiratory failure
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0100490Camptodactyly of finger
Периодический (5–29%)3
HP:0000077Abnormality of the kidney
HP:0001250Seizure
HP:0011675Arrhythmia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)