Xq21 microdeletion syndrome
ORPHA:1435Malformation syndromeX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)4
HP:0000407Sensorineural hearing impairment
HP:0000532Chorioretinal abnormality
HP:0001139Choroideremia
HP:0200065Chorioretinal degeneration
Частый (30–79%)25
HP:0000375Abnormal cochlea morphology
HP:0000381Stapes ankylosis
HP:0000405Conductive hearing impairment
HP:0000648Optic atrophy
HP:0000824Decreased response to growth hormone stimulation test
HP:0000830Anterior hypopituitarism
HP:0001251Ataxia
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001347Hyperreflexia
HP:0001510Growth delay
HP:0001513Obesity
HP:0002066Gait ataxia
HP:0002750Delayed skeletal maturation
HP:0004458Dilatated internal auditory canal
HP:0005109Abnormality of the Achilles tendon
HP:0007663Reduced visual acuity
HP:0007675Progressive night blindness
HP:0007937Reticular pigmentary degeneration
HP:0007994Peripheral visual field loss
HP:0008245Pituitary hypothyroidism
HP:0008619Bilateral sensorineural hearing impairment
HP:0008897Postnatal growth retardation
HP:0011448Ankle clonus
HP:0030532Visual acuity test abnormality
Периодический (5–29%)7
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0000822Hypertension
HP:0001250Seizure
HP:0001920Renal artery stenosis
HP:0002075Dysdiadochokinesis
HP:0003484Upper limb muscle weakness
Исключён (0%)3
HP:0000863Central diabetes insipidus
HP:0010625Anterior pituitary dysgenesis
HP:0011748Adrenocorticotropic hormone deficiency
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | 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)