CTCF-related neurodevelopmental disorder
ORPHA:363611DiseaseAutosomal dominantAntenatal, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)71
Частый (30–79%)28
HP:0000028Cryptorchidism
HP:0000164Abnormality of the dentition
HP:0000219Thin upper lip vermilion
HP:0000233Thin vermilion border
HP:0000252Microcephaly
HP:0000486Strabismus
HP:0000527Long eyelashes
HP:0000540Hypermetropia
HP:0000574Thick eyebrow
HP:0000675Macrodontia of permanent maxillary central incisor
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0000954Single transverse palmar crease
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001508Failure to thrive
HP:0001518Small for gestational age
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001852Sandal gap
HP:0001999Abnormal facial shape
HP:0002119Ventriculomegaly
HP:0002719Recurrent infections
HP:0004209Clinodactyly of the 5th finger
HP:0010059Broad hallux phalanx
HP:0011968Feeding difficulties
HP:0012758Neurodevelopmental delay
Периодический (5–29%)43
HP:0000023Inguinal hernia
HP:0000059Hypoplastic labia majora
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000341Narrow forehead
HP:0000343Long philtrum
HP:0000348High forehead
HP:0000358Posteriorly rotated ears
HP:0000378Cupped ear
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000482Microcornea
HP:0000490Deeply set eye
HP:0000664Synophrys
HP:0000691Microdontia
HP:0000938Osteopenia
HP:0000960Sacral dimple
HP:0000998Hypertrichosis
HP:0001212Prominent fingertip pads
HP:0001363Craniosynostosis
HP:0001653Mitral regurgitation
HP:0001680Coarctation of aorta
HP:0001741Phimosis
HP:0002000Short columella
HP:0002020Gastroesophageal reflux
HP:0002092Pulmonary arterial hypertension
HP:0002360Sleep abnormality
HP:0002553Highly arched eyebrow
HP:0002783Recurrent lower respiratory tract infections
HP:0003196Short nose
HP:00046912-3 toe syndactyly
HP:0006528Chronic lung disease
HP:0006579Prolonged neonatal jaundice
HP:0009183Joint contracture of the 5th finger
HP:0011470Nasogastric tube feeding in infancy
HP:0011800Midface retrusion
HP:0025116Fetal distress
HP:0025160Abnormal temper tantrums
HP:0040223Pulmonary hemorrhage
HP:0100806Sepsis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)