Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
ORPHA:457279Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)61
Очень частый (80–99%)6
HP:0000256Macrocephaly
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0001319Neonatal hypotonia
HP:0031936Delayed ability to walk
Частый (30–79%)13
HP:0000478Abnormality of the eye
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000733Abnormal repetitive mannerisms
HP:0000744Low frustration tolerance
HP:0001344Absent speech
HP:0001999Abnormal facial shape
HP:0002317Unsteady gait
HP:0002342Intellectual disability, moderate
HP:0002465Poor speech
HP:0002650Scoliosis
HP:0010864Intellectual disability, severe
HP:0025160Abnormal temper tantrums
Периодический (5–29%)16
HP:0000276Long face
HP:0000325Triangular face
HP:0000369Low-set ears
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0001251Ataxia
HP:0001273Abnormal corpus callosum morphology
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0002389Cavum septum pellucidum
HP:0002500Abnormal cerebral white matter morphology
HP:0003196Short nose
HP:0006956Dilation of lateral ventricles
HP:0011220Prominent forehead
HP:0011800Midface retrusion
HP:0100702Arachnoid cyst
Очень редкий (1–4%)26
HP:0000176Submucous cleft hard palate
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000260Wide anterior fontanel
HP:0000268Dolichocephaly
HP:0000324Facial asymmetry
HP:0000343Long philtrum
HP:0000483Astigmatism
HP:0001137Alternating esotropia
HP:0001250Seizure
HP:0001284Areflexia
HP:0001357Plagiocephaly
HP:0001374Congenital hip dislocation
HP:0001583Rotary nystagmus
HP:0001631Atrial septal defect
HP:0001647Bicuspid aortic valve
HP:0001655Patent foramen ovale
HP:0001943Hypoglycemia
HP:0002007Frontal bossing
HP:0002021Pyloric stenosis
HP:0002028Chronic diarrhea
HP:0002558Supernumerary nipple
HP:0005216Impaired mastication
HP:0005988Congenital muscular torticollis
HP:0011937Hypoplastic fifth toenail
HP:0100350Contracture of the proximal interphalangeal joint of the 4th toe
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 16 | 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)