Pontocerebellar hypoplasia type 7
ORPHA:284339Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)37
Частый (30–79%)21
HP:0000028Cryptorchidism
HP:0000062Ambiguous genitalia
HP:0000215Thick upper lip vermilion
HP:0000218High palate
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000431Wide nasal bridge
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0002060Abnormal cerebral morphology
HP:0002079Hypoplasia of the corpus callosum
HP:0002365Hypoplasia of the brainstem
HP:0002380Fasciculations
HP:0002500Abnormal cerebral white matter morphology
HP:0003202Skeletal muscle atrophy
HP:0006955Olivopontocerebellar hypoplasia
HP:0030197Fatigable weakness of skeletal muscles
Периодический (5–29%)16
HP:0000054Micropenis
HP:0000133Gonadal dysgenesis
HP:0000151Aplasia of the uterus
HP:0000582Upslanted palpebral fissure
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001257Spasticity
HP:0001336Myoclonus
HP:0001347Hyperreflexia
HP:0004305Involuntary movements
HP:0005280Depressed nasal bridge
HP:0008665Clitoral hypertrophy
HP:0012856Abnormal scrotal rugation
HP:0030260Microphallus
HP:0030261Absent penis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)