Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
ORPHA:457485Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)3
HP:0000256Macrocephaly
HP:0001249Intellectual disability
HP:0001355Megalencephaly
Частый (30–79%)11
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001520Large for gestational age
HP:0001999Abnormal facial shape
HP:0002007Frontal bossing
HP:0002119Ventriculomegaly
HP:0002167Abnormality of speech or vocalization
HP:0002197Generalized-onset seizure
HP:0002212Curly hair
HP:0007359Focal-onset seizure
Периодический (5–29%)23
HP:0000028Cryptorchidism
HP:0000154Wide mouth
HP:0000194Open mouth
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000486Strabismus
HP:0000729Autistic behavior
HP:0000752Hyperactivity
HP:0000957Cafe-au-lait spot
HP:0001028Hemangioma
HP:0001053Hypopigmented skin patches
HP:0001252Hypotonia
HP:0001273Abnormal corpus callosum morphology
HP:0001288Gait disturbance
HP:0001538Protuberant abdomen
HP:0001540Diastasis recti
HP:0001763Pes planus
HP:0002099Asthma
HP:0002126Polymicrogyria
HP:0004789Lactose intolerance
HP:0005257Thoracic hypoplasia
HP:0011220Prominent forehead
HP:0025104Capillary malformation
Очень редкий (1–4%)8
HP:0000047Hypospadias
HP:0000331Short chin
HP:0000494Downslanted palpebral fissures
HP:0001998Neonatal hypoglycemia
HP:0002720Decreased circulating IgA level
HP:0005266Intestinal polyp
HP:0005280Depressed nasal bridge
HP:0012393Allergy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)