Macrocephaly-intellectual disability-left ventricular non compaction syndrome
ORPHA:466791Malformation syndromeX-linked recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)77
Очень частый (80–99%)1
HP:0004482Relative macrocephaly
Частый (30–79%)28
HP:0000194Open mouth
HP:0000272Malar flattening
HP:0000276Long face
HP:0000426Prominent nasal bridge
HP:0000446Narrow nasal bridge
HP:0000448Prominent nose
HP:0000486Strabismus
HP:0000545Myopia
HP:0000582Upslanted palpebral fissure
HP:0000678Dental crowding
HP:0000739Anxiety
HP:0000750Delayed speech and language development
HP:0001256Intellectual disability, mild
HP:0001290Generalized hypotonia
HP:0001533Slender build
HP:0001611Hypernasal speech
HP:0001711Abnormal left ventricle morphology
HP:0001763Pes planus
HP:0001999Abnormal facial shape
HP:0002033Poor suck
HP:0002194Delayed gross motor development
HP:0002421Poor head control
HP:0002705High, narrow palate
HP:0002751Kyphoscoliosis
HP:0006989Dysplastic corpus callosum
HP:0009703Synostosis involving the 1st metacarpal
HP:0011968Feeding difficulties
HP:0100962Shyness
Периодический (5–29%)48
HP:0000028Cryptorchidism
HP:0000154Wide mouth
HP:0000219Thin upper lip vermilion
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000325Triangular face
HP:0000494Downslanted palpebral fissures
HP:0000687Widely spaced teeth
HP:0000717Autism
HP:0000718Aggressive behavior
HP:0000823Delayed puberty
HP:0001250Seizure
HP:0001251Ataxia
HP:0001321Cerebellar hypoplasia
HP:0001357Plagiocephaly
HP:0001382Joint hypermobility
HP:0001508Failure to thrive
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001655Patent foramen ovale
HP:0001667Right ventricular hypertrophy
HP:0001712Left ventricular hypertrophy
HP:0001822Hallux valgus
HP:0002007Frontal bossing
HP:0002020Gastroesophageal reflux
HP:0002079Hypoplasia of the corpus callosum
HP:0002080Intention tremor
HP:0002465Poor speech
HP:0002558Supernumerary nipple
HP:0002684Thickened calvaria
HP:0002870Obstructive sleep apnea
HP:0004209Clinodactyly of the 5th finger
HP:0004684Talipes valgus
HP:0005180Tricuspid regurgitation
HP:0007024Pseudobulbar paralysis
HP:0007083Hyperactive patellar reflex
HP:0007099Chiari type I malformation
HP:0007449Confetti-like hypopigmented macules
HP:0008689Bilateral cryptorchidism
HP:0010316Ebstein anomaly of the tricuspid valve
HP:0010627Anterior pituitary hypoplasia
HP:0011098Speech apraxia
HP:0012471Thick vermilion border
HP:0030872Abnormal cardiac ventricular function
HP:0032009Infantile constant exotropia
HP:0040288Nasogastric tube feeding
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)