Hao-Fountain syndrome due to 16p13.2 microdeletion
ORPHA:500055Etiological subtypeNot applicableChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)53
Очень частый (80–99%)4
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0410263Brain imaging abnormality
Частый (30–79%)19
HP:0000135Hypogonadism
HP:0000565Esotropia
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001288Gait disturbance
HP:0001319Neonatal hypotonia
HP:0001508Failure to thrive
HP:0002020Gastroesophageal reflux
HP:0002079Hypoplasia of the corpus callosum
HP:0002099Asthma
HP:0004322Short stature
HP:0007018Attention deficit hyperactivity disorder
HP:0007082Dilated third ventricle
HP:0008872Feeding difficulties in infancy
HP:0012450Chronic constipation
HP:0012762Cerebral white matter atrophy
Периодический (5–29%)30
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000238Hydrocephalus
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000486Strabismus
HP:0000545Myopia
HP:0000639Nystagmus
HP:0001344Absent speech
HP:0001357Plagiocephaly
HP:0001371Flexion contracture
HP:0001385Hip dysplasia
HP:0001558Decreased fetal movement
HP:0001773Short foot
HP:0002028Chronic diarrhea
HP:0002033Poor suck
HP:0002119Ventriculomegaly
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0004482Relative macrocephaly
HP:0006970Periventricular leukomalacia
HP:0008770Obsessive-compulsive trait
HP:0010535Sleep apnea
HP:0012166Skin-picking
HP:0025160Abnormal temper tantrums
HP:0025502Overweight
HP:0100710Impulsivity
HP:0200055Small hand
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)