Lujan-Fryns syndrome
ORPHA:776Malformation syndromeX-linked recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MED12 | mediator complex subunit 12 | Disease-causing germline mutation(s) in | gene with protein product | 300188 |
| ZDHHC9 | zDHHC palmitoyltransferase 9 | Disease-causing germline mutation(s) in | gene with protein product | 300646 |
| UPF3B | UPF3B regulator of nonsense mediated mRNA decay | Disease-causing germline mutation(s) in | gene with protein product | 300298 |
Фенотипы (HPO)34
Очень частый (80–99%)12
HP:0000218High palate
HP:0000256Macrocephaly
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000708Atypical behavior
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001519Disproportionate tall stature
HP:0001608Abnormality of the voice
HP:0001611Hypernasal speech
HP:0002167Abnormality of speech or vocalization
HP:0002650Scoliosis
Частый (30–79%)11
HP:0000053Macroorchidism
HP:0000275Narrow face
HP:0000322Short philtrum
HP:0000327Hypoplasia of the maxilla
HP:0000426Prominent nasal bridge
HP:0000767Pectus excavatum
HP:0001166Arachnodactyly
HP:0001631Atrial septal defect
HP:0007018Attention deficit hyperactivity disorder
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0001382Joint hypermobility
Периодический (5–29%)11
HP:0000164Abnormality of the dentition
HP:0000248Brachycephaly
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000678Dental crowding
HP:0000709Psychosis
HP:0000738Hallucinations
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0100490Camptodactyly of finger
HP:0100753Schizophrenia
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)