MYT1L-related developmental delay-intellectual disability-obesity syndrome
ORPHA:647799DiseaseAutosomal dominant
Ассоциированные гены1
Фенотипы (HPO)66
Очень частый (80–99%)5
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0010862Delayed fine motor development
Частый (30–79%)19
HP:0000293Full cheeks
HP:0000414Bulbous nose
HP:0000490Deeply set eye
HP:0000718Aggressive behavior
HP:0000733Abnormal repetitive mannerisms
HP:0001270Motor delay
HP:0001328Specific learning disability
HP:0001513Obesity
HP:0002263Exaggerated cupid's bow
HP:0002342Intellectual disability, moderate
HP:0002360Sleep abnormality
HP:0002591Polyphagia
HP:0007018Attention deficit hyperactivity disorder
HP:0007874Almond-shaped palpebral fissure
HP:0008947Floppy infant
HP:0011443Abnormality of coordination
HP:0012378Fatigue
HP:0100710Impulsivity
HP:0100738Abnormal eating behavior
Периодический (5–29%)29
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000739Anxiety
HP:0000817Reduced eye contact
HP:0001250Seizure
HP:0001256Intellectual disability, mild
HP:0001319Neonatal hypotonia
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001558Decreased fetal movement
HP:0001622Premature birth
HP:0001998Neonatal hypoglycemia
HP:0002020Gastroesophageal reflux
HP:0002098Respiratory distress
HP:0002119Ventriculomegaly
HP:0003763Bruxism
HP:0004322Short stature
HP:0005988Congenital muscular torticollis
HP:0008071Maternal hypertension
HP:0008872Feeding difficulties in infancy
HP:0009800Maternal diabetes
HP:0010864Intellectual disability, severe
HP:0025160Abnormal temper tantrums
HP:0025502Overweight
HP:0032508Polyembolokoilamania
HP:6000352Tachyphagia
Очень редкий (1–4%)13
HP:0000054Micropenis
HP:0000107Renal cyst
HP:0000135Hypogonadism
HP:0000256Macrocephaly
HP:0000545Myopia
HP:0000639Nystagmus
HP:0000657Oculomotor apraxia
HP:0000776Congenital diaphragmatic hernia
HP:0000872Hashimoto thyroiditis
HP:0003077Hyperlipidemia
HP:0010535Sleep apnea
HP:0010952Mild fetal ventriculomegaly
HP:0034977Abnormal pituitary stalk morphology
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)