Prader-Willi syndrome due to translocation
ORPHA:177907Etiological subtypeNot applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)93
Очень частый (80–99%)4
HP:0001513Obesity
HP:0001612Weak cry
HP:0002033Poor suck
HP:0008872Feeding difficulties in infancy
Частый (30–79%)18
HP:0000044Hypogonadotropic hypogonadism
HP:0000219Thin upper lip vermilion
HP:0000341Narrow forehead
HP:0000824Decreased response to growth hormone stimulation test
HP:0001256Intellectual disability, mild
HP:0001319Neonatal hypotonia
HP:0001773Short foot
HP:0001999Abnormal facial shape
HP:0002098Respiratory distress
HP:0002205Recurrent respiratory infections
HP:0002714Downturned corners of mouth
HP:0003241External genital hypoplasia
HP:0004322Short stature
HP:0006829Severe muscular hypotonia
HP:0007874Almond-shaped palpebral fissure
HP:0010627Anterior pituitary hypoplasia
HP:0025160Abnormal temper tantrums
HP:0200055Small hand
Периодический (5–29%)71
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000384Preauricular skin tag
HP:0000446Narrow nasal bridge
HP:0000448Prominent nose
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000077Abnormality of the kidney
HP:0000154Wide mouth
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000218High palate
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000520Proptosis
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000582Upslanted palpebral fissure
HP:0000601Hypotelorism
HP:0000670Carious teeth
HP:0000708Atypical behavior
HP:0000722Compulsive behaviors
HP:0000733Abnormal repetitive mannerisms
HP:0000739Anxiety
HP:0000750Delayed speech and language development
HP:0000953Hyperpigmentation of the skin
HP:0001010Hypopigmentation of the skin
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001265Hyporeflexia
HP:0001344Absent speech
HP:0001347Hyperreflexia
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
HP:0001611Hypernasal speech
HP:0001627Abnormal heart morphology
HP:0001643Patent ductus arteriosus
HP:0001655Patent foramen ovale
HP:0001763Pes planus
HP:0001776Bilateral talipes equinovarus
HP:0001845Overlapping toe
HP:0002120Cerebral cortical atrophy
HP:0002650Scoliosis
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0005469Flat occiput
HP:0005599Hypopigmentation of hair
HP:0006347Microdontia of primary teeth
HP:0006956Dilation of lateral ventricles
HP:0007018Attention deficit hyperactivity disorder
HP:0007730Iris hypopigmentation
HP:0009085Alveolar ridge overgrowth
HP:0010801Underdeveloped nasolabial fold
HP:0010864Intellectual disability, severe
HP:0011470Nasogastric tube feeding in infancy
HP:0012166Skin-picking
HP:0012168Head-banging
HP:0012433Abnormal social behavior
HP:0012704Widened subarachnoid space
HP:0012760Reduced social responsiveness
HP:0012775Stellate iris
HP:0030084Clinodactyly
HP:0040025Clinodactyly of the 4th finger
HP:0040082Happy demeanor
HP:0100704Cerebral visual impairment
HP:0200096Triangular-shaped open mouth
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)