Maternal uniparental disomy of chromosome 4 syndrome
ORPHA:96180Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)39
Частый (30–79%)34
HP:0000510Rod-cone dystrophy
HP:0000580Pigmentary retinopathy
HP:0000662Nyctalopia
HP:0000707Abnormality of the nervous system
HP:0000716Depression
HP:0000750Delayed speech and language development
HP:0001123Visual field defect
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001310Dysmetria
HP:0001877Abnormal erythrocyte morphology
HP:0001927Acanthocytosis
HP:0002014Diarrhea
HP:0002064Spastic gait
HP:0002495Impaired vibratory sensation
HP:0002600Hyporeflexia of lower limbs
HP:0002630Fat malabsorption
HP:0003146Hypocholesterolemia
HP:0003236Elevated circulating creatine kinase concentration
HP:0003563Decreased LDL cholesterol concentration
HP:0003707Calf muscle pseudohypertrophy
HP:0003722Neck flexor weakness
HP:0004322Short stature
HP:0004325Decreased body weight
HP:0004395Malnutrition
HP:0004905Low levels of vitamin A
HP:0006785Limb-girdle muscular dystrophy
HP:0008181Abetalipoproteinemia
HP:0008897Postnatal growth retardation
HP:0010831Impaired proprioception
HP:0010875Chaddock reflex
HP:0011892Low levels of vitamin K
HP:0011900Hypofibrinogenemia
HP:0100513Low levels of vitamin E
Очень редкий (1–4%)5
HP:0000011Neurogenic bladder
HP:0000407Sensorineural hearing impairment
HP:0000648Optic atrophy
HP:0000873Diabetes insipidus
HP:0100651Type I diabetes mellitus
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)