Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
ORPHA:476126Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)55
Очень частый (80–99%)3
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0002465Poor speech
Частый (30–79%)14
HP:0000164Abnormality of the dentition
HP:0000324Facial asymmetry
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000664Synophrys
HP:0000678Dental crowding
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0001182Tapered finger
HP:0002650Scoliosis
HP:0002719Recurrent infections
HP:00046912-3 toe syndactyly
HP:0008872Feeding difficulties in infancy
HP:0011451Congenital microcephaly
Периодический (5–29%)38
HP:0000020Urinary incontinence
HP:0000218High palate
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000486Strabismus
HP:0000646Amblyopia
HP:0000706Unerupted tooth
HP:0000718Aggressive behavior
HP:0000722Compulsive behaviors
HP:0000733Abnormal repetitive mannerisms
HP:0000742Self-mutilation
HP:0000767Pectus excavatum
HP:0001155Abnormality of the hand
HP:0001250Seizure
HP:0001328Specific learning disability
HP:0001337Tremor
HP:0001344Absent speech
HP:0001508Failure to thrive
HP:0001674Complete atrioventricular canal defect
HP:0001763Pes planus
HP:0002033Poor suck
HP:0002066Gait ataxia
HP:0002360Sleep abnormality
HP:0002808Kyphosis
HP:0003072Hypercalcemia
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0004279Short palm
HP:0005484Secondary microcephaly
HP:0006889Intellectual disability, borderline
HP:0007018Attention deficit hyperactivity disorder
HP:0007970Congenital ptosis
HP:0009659Partial absence of thumb
HP:0010035Aplasia of the 1st metacarpal
HP:0011471Gastrostomy tube feeding in infancy
HP:0011908Unilateral radial aplasia
HP:0012450Chronic constipation
HP:0200006Slanting of the palpebral fissure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)