Macrocephaly-developmental delay syndrome
ORPHA:397612Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)26
Частый (30–79%)8
HP:0000256Macrocephaly
HP:0000733Abnormal repetitive mannerisms
HP:0000739Anxiety
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001963Abnormal speech discrimination
HP:0002007Frontal bossing
HP:0031936Delayed ability to walk
Периодический (5–29%)18
HP:0000218High palate
HP:0000303Mandibular prognathia
HP:0000308Microretrognathia
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000729Autistic behavior
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001363Craniosynostosis
HP:0001433Hepatosplenomegaly
HP:0004209Clinodactyly of the 5th finger
HP:0006532Recurrent pneumonia
HP:0010845EEG with generalized slow activity
HP:0011220Prominent forehead
HP:0030799Scaphocephaly
HP:0045025Narrow palpebral fissure
HP:0100540Palpebral edema
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)