Microphthalmia, Lenz type
ORPHA:568Malformation syndromeX-linked recessiveNeonatal
Ассоциированные гены2
Фенотипы (HPO)42
Очень частый (80–99%)1
HP:0000568Microphthalmia
Частый (30–79%)22
HP:0000377Abnormal pinna morphology
HP:0000358Posteriorly rotated ears
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000072Hydroureter
HP:0000126Hydronephrosis
HP:0000164Abnormality of the dentition
HP:0000202Orofacial cleft
HP:0000252Microcephaly
HP:0000482Microcornea
HP:0000501Glaucoma
HP:0000567Chorioretinal coloboma
HP:0000588Optic disc coloboma
HP:0000612Iris coloboma
HP:0001249Intellectual disability
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0006101Finger syndactyly
HP:0006482Abnormal dental morphology
HP:0008678Renal hypoplasia/aplasia
HP:0009943Complete duplication of thumb phalanx
HP:0100490Camptodactyly of finger
Периодический (5–29%)19
HP:0000365Hearing impairment
HP:0000384Preauricular skin tag
HP:0000465Webbed neck
HP:0000505Visual impairment
HP:0000518Cataract
HP:0000639Nystagmus
HP:0000684Delayed eruption of teeth
HP:0000889Abnormality of the clavicle
HP:0001250Seizure
HP:0002167Abnormality of speech or vocalization
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003043Abnormality of the shoulder
HP:0003307Hyperlordosis
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0009755Ankyloblepharon
HP:0030680Abnormal cardiovascular system morphology
HP:0100716Self-injurious behavior
HP:0100818Long thorax
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)