Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
ORPHA:369891Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)66
Очень частый (80–99%)3
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001270Motor delay
Частый (30–79%)13
HP:0000154Wide mouth
HP:0000158Macroglossia
HP:0000194Open mouth
HP:0000369Low-set ears
HP:0000414Bulbous nose
HP:0000431Wide nasal bridge
HP:0000582Upslanted palpebral fissure
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0001252Hypotonia
HP:0001328Specific learning disability
HP:0002342Intellectual disability, moderate
HP:0002465Poor speech
Периодический (5–29%)50
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000286Epicanthus
HP:0000294Low anterior hairline
HP:0000303Mandibular prognathia
HP:0000311Round face
HP:0000316Hypertelorism
HP:0000325Triangular face
HP:0000337Broad forehead
HP:0000341Narrow forehead
HP:0000365Hearing impairment
HP:0000384Preauricular skin tag
HP:0000400Macrotia
HP:0000470Short neck
HP:0000508Ptosis
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000687Widely spaced teeth
HP:0000711Restlessness
HP:0000713Agitation
HP:0000717Autism
HP:0000718Aggressive behavior
HP:0000752Hyperactivity
HP:0001155Abnormality of the hand
HP:0001159Syndactyly
HP:0001251Ataxia
HP:0001357Plagiocephaly
HP:0001537Umbilical hernia
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001655Patent foramen ovale
HP:0001760Abnormal foot morphology
HP:0002236Frontal upsweep of hair
HP:0002311Incoordination
HP:0002313Spastic paraparesis
HP:0002353EEG abnormality
HP:0002714Downturned corners of mouth
HP:0003196Short nose
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0005612Arthrogryposis-like hand anomaly
HP:0007633Bilateral microphthalmos
HP:0007700Anterior segment developmental abnormality
HP:0010841Multifocal epileptiform discharges
HP:0011228Horizontal eyebrow
HP:0011800Midface retrusion
HP:0012385Camptodactyly
HP:0030084Clinodactyly
HP:0100025Overfriendliness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 70 | 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)