PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
ORPHA:589905DiseaseAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)3
HP:0000400Macrotia
HP:0001249Intellectual disability
HP:0012758Neurodevelopmental delay
Частый (30–79%)18
HP:0000233Thin vermilion border
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000348High forehead
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000539Abnormality of refraction
HP:0000540Hypermetropia
HP:0000664Synophrys
HP:0000957Cafe-au-lait spot
HP:0001182Tapered finger
HP:0001252Hypotonia
HP:0004209Clinodactyly of the 5th finger
HP:0004324Increased body weight
HP:0007018Attention deficit hyperactivity disorder
HP:0008872Feeding difficulties in infancy
HP:0012378Fatigue
HP:0100710Impulsivity
Периодический (5–29%)17
HP:0000028Cryptorchidism
HP:0000286Epicanthus
HP:0000403Recurrent otitis media
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000582Upslanted palpebral fissure
HP:0001250Seizure
HP:0001288Gait disturbance
HP:0001319Neonatal hypotonia
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002360Sleep abnormality
HP:0002378Hand tremor
HP:0002761Generalized joint laxity
HP:0002788Recurrent upper respiratory tract infections
HP:00046912-3 toe syndactyly
HP:0007874Almond-shaped palpebral fissure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 35 | 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)