Monosomy 9p syndrome
ORPHA:261112Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)58
Очень частый (80–99%)23
HP:0000218High palate
HP:0000243Trigonocephaly
HP:0000248Brachycephaly
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000463Anteverted nares
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000581Blepharophimosis
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001816Thin nail
HP:0002162Low posterior hairline
HP:0005280Depressed nasal bridge
HP:0006610Wide intermamillary distance
HP:0007477Abnormal dermatoglyphics
HP:0008551Microtia
HP:0009623Proximal placement of thumb
HP:0009738Abnormality of the antihelix
HP:0009892Anotia
Частый (30–79%)20
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000062Ambiguous genitalia
HP:0000160Narrow mouth
HP:0000164Abnormality of the dentition
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000486Strabismus
HP:0000574Thick eyebrow
HP:0000582Upslanted palpebral fissure
HP:0000639Nystagmus
HP:0000664Synophrys
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0001376Limitation of joint mobility
HP:0001850Abnormality of the tarsal bones
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0003196Short nose
Периодический (5–29%)15
HP:0000074Ureteropelvic junction obstruction
HP:0000175Cleft palate
HP:0000413Atresia of the external auditory canal
HP:0000453Choanal atresia
HP:0000494Downslanted palpebral fissures
HP:0000568Microphthalmia
HP:0000772Abnormal rib morphology
HP:0000776Congenital diaphragmatic hernia
HP:0000925Abnormality of the vertebral column
HP:0001162Postaxial hand polydactyly
HP:0001274Agenesis of corpus callosum
HP:0001362Skull defect
HP:0007598Bilateral single transverse palmar creases
HP:0030680Abnormal cardiovascular system morphology
HP:0100790Hernia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)