Kleefstra syndrome due to 9q34 microdeletion
ORPHA:96147Etiological subtypeNot applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)55
Очень частый (80–99%)14
HP:0000232Everted lower lip vermilion
HP:0000248Brachycephaly
HP:0000316Hypertelorism
HP:0000463Anteverted nares
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0002300Mutism
HP:0002381Aphasia
HP:0002553Highly arched eyebrow
HP:0003196Short nose
HP:0005469Flat occiput
HP:0010529Echolalia
Частый (30–79%)15
HP:0000028Cryptorchidism
HP:0000035Abnormal testis morphology
HP:0000158Macroglossia
HP:0000252Microcephaly
HP:0000664Synophrys
HP:0000717Autism
HP:0001250Seizure
HP:0001513Obesity
HP:0001671Abnormal cardiac septum morphology
HP:0002121Generalized non-motor (absence) seizure
HP:0002133Status epilepticus
HP:0002714Downturned corners of mouth
HP:0010808Protruding tongue
HP:0011097Epileptic spasm
HP:0011800Midface retrusion
Периодический (5–29%)26
HP:0000023Inguinal hernia
HP:0000076Vesicoureteral reflux
HP:0000083Renal insufficiency
HP:0000365Hearing impairment
HP:0000708Atypical behavior
HP:0000716Depression
HP:0000737Irritability
HP:0000739Anxiety
HP:0000741Apathy
HP:0001274Agenesis of corpus callosum
HP:0001331Absent septum pellucidum
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001636Tetralogy of Fallot
HP:0001650Aortic valve stenosis
HP:0001659Aortic regurgitation
HP:0001680Coarctation of aorta
HP:0001710Conotruncal defect
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002360Sleep abnormality
HP:0008736Hypoplasia of penis
HP:0011968Feeding difficulties
HP:0012157Subcortical cerebral atrophy
HP:0100308Cerebral cortical hemiatrophy
HP:0100541Femoral hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 86 | 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)