2q37 microdeletion syndrome
ORPHA:1001Malformation syndromeAutosomal dominant, Not applicableNeonatal
Ассоциированные гены1
Фенотипы (HPO)52
Очень частый (80–99%)5
HP:0000311Round face
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0011800Midface retrusion
Частый (30–79%)32
HP:0001382Joint hypermobility
HP:0000233Thin vermilion border
HP:0000252Microcephaly
HP:0000430Underdeveloped nasal alae
HP:0000463Anteverted nares
HP:0000490Deeply set eye
HP:0000582Upslanted palpebral fissure
HP:0000708Atypical behavior
HP:0000964Eczematoid dermatitis
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001513Obesity
HP:0001537Umbilical hernia
HP:0001770Toe syndactyly
HP:0001773Short foot
HP:0002007Frontal bossing
HP:0002209Sparse scalp hair
HP:0002553Highly arched eyebrow
HP:0002558Supernumerary nipple
HP:0002714Downturned corners of mouth
HP:0004209Clinodactyly of the 5th finger
HP:0004279Short palm
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0006101Finger syndactyly
HP:0006610Wide intermamillary distance
HP:0007598Bilateral single transverse palmar creases
HP:0010049Short metacarpal
HP:0010761Broad columella
HP:0030680Abnormal cardiovascular system morphology
HP:0045075Sparse eyebrow
HP:0200055Small hand
Периодический (5–29%)15
HP:0000003Multicystic kidney dysplasia
HP:0000256Macrocephaly
HP:0000405Conductive hearing impairment
HP:0000470Short neck
HP:0000717Autism
HP:0000722Compulsive behaviors
HP:0000733Abnormal repetitive mannerisms
HP:0000776Congenital diaphragmatic hernia
HP:0001601Laryngomalacia
HP:0001679Abnormal aortic morphology
HP:0002021Pyloric stenosis
HP:0002360Sleep abnormality
HP:0002667Nephroblastoma
HP:0002779Tracheomalacia
HP:0007018Attention deficit hyperactivity disorder
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 115 | 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)