FOXP1 Syndrome
ORPHA:391372Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)60
Очень частый (80–99%)4
HP:0000750Delayed speech and language development
HP:0002474Expressive language delay
HP:0009088Speech articulation difficulties
HP:0011220Prominent forehead
Частый (30–79%)35
HP:0000119Abnormality of the genitourinary system
HP:0000194Open mouth
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000403Recurrent otitis media
HP:0000455Broad nasal tip
HP:0000478Abnormality of the eye
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000539Abnormality of refraction
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000736Short attention span
HP:0000739Anxiety
HP:0000954Single transverse palmar crease
HP:0001257Spasticity
HP:0001270Motor delay
HP:0001371Flexion contracture
HP:0001508Failure to thrive
HP:0001627Abnormal heart morphology
HP:0002019Constipation
HP:0002236Frontal upsweep of hair
HP:0002342Intellectual disability, moderate
HP:0002714Downturned corners of mouth
HP:0002788Recurrent upper respiratory tract infections
HP:0003196Short nose
HP:0005272Prominent nasolabial fold
HP:0007301Oromotor apraxia
HP:0008762Repetitive compulsive behavior
HP:0010864Intellectual disability, severe
HP:0011823Chin with horizontal crease
HP:0011968Feeding difficulties
HP:0012471Thick vermilion border
HP:0410263Brain imaging abnormality
Периодический (5–29%)21
HP:0000077Abnormality of the kidney
HP:0000256Macrocephaly
HP:0000278Retrognathia
HP:0000581Blepharophimosis
HP:0000598Abnormality of the ear
HP:0000639Nystagmus
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0001212Prominent fingertip pads
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001581Recurrent skin infections
HP:0002092Pulmonary arterial hypertension
HP:0002353EEG abnormality
HP:0007018Attention deficit hyperactivity disorder
HP:0008589Hypoplastic helices
HP:0012393Allergy
HP:0025502Overweight
HP:0030084Clinodactyly
HP:0040303Decreased serum iron
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 48 | 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)