X-linked intellectual disability, Sutherland-Haan type
ORPHA:93950Clinical subtypeX-linked recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)18
Очень частый (80–99%)2
HP:0000252Microcephaly
HP:0004325Decreased body weight
Частый (30–79%)9
HP:0000248Brachycephaly
HP:0000327Hypoplasia of the maxilla
HP:0000582Upslanted palpebral fissure
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001518Small for gestational age
HP:0004322Short stature
HP:0008734Decreased testicular size
HP:0010864Intellectual disability, severe
Периодический (5–29%)7
HP:0000275Narrow face
HP:0000276Long face
HP:0000303Mandibular prognathia
HP:0000400Macrotia
HP:0000486Strabismus
HP:0001256Intellectual disability, mild
HP:0002023Anal atresia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)