X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
ORPHA:435938Malformation syndromeX-linked recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)25
Облигатный (100%)9
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000303Mandibular prognathia
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001999Abnormal facial shape
HP:0002020Gastroesophageal reflux
HP:0002719Recurrent infections
HP:0008850Severe postnatal growth retardation
Частый (30–79%)16
HP:0000219Thin upper lip vermilion
HP:0000047Hypospadias
HP:0000407Sensorineural hearing impairment
HP:0000411Protruding ear
HP:0000678Dental crowding
HP:0000954Single transverse palmar crease
HP:0001182Tapered finger
HP:0001601Laryngomalacia
HP:0004415Pulmonary artery stenosis
HP:0006101Finger syndactyly
HP:0006380Knee flexion contracture
HP:0006466Ankle flexion contracture
HP:0009796Branchial cyst
HP:0012033Sacral lipoma
HP:0012385Camptodactyly
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)