Maternal uniparental disomy of chromosome 1 syndrome
ORPHA:251009Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)29
Частый (30–79%)29
HP:0000319Smooth philtrum
HP:0000365Hearing impairment
HP:0000518Cataract
HP:0000639Nystagmus
HP:0000717Autism
HP:0000954Single transverse palmar crease
HP:0001250Seizure
HP:0001251Ataxia
HP:0001319Neonatal hypotonia
HP:0001476Delayed closure of the anterior fontanelle
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001876Pancytopenia
HP:0001883Talipes
HP:0002020Gastroesophageal reflux
HP:0002119Ventriculomegaly
HP:0002191Progressive spasticity
HP:0002240Hepatomegaly
HP:0002714Downturned corners of mouth
HP:0002719Recurrent infections
HP:0002813Abnormality of limb bone morphology
HP:0003139Panhypogammaglobulinemia
HP:0004322Short stature
HP:0007272Progressive psychomotor deterioration
HP:0008066Abnormal blistering of the skin
HP:0009909Uplifted earlobe
HP:0010655Epiphyseal stippling
HP:0011968Feeding difficulties
HP:0100651Type I diabetes mellitus
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)