Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
ORPHA:1236Malformation syndromeNo data availableNeonatal
Фенотипы (HPO)32
Очень частый (80–99%)19
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000506Telecanthus
HP:0000668Hypodontia
HP:0001276Hypertonia
HP:0002006Facial cleft
HP:0002007Frontal bossing
HP:0002558Supernumerary nipple
HP:0002650Scoliosis
HP:0007477Abnormal dermatoglyphics
HP:0007598Bilateral single transverse palmar creases
HP:0009748Large earlobe
HP:0010751Chin dimple
HP:0011304Broad thumb
HP:0100022Abnormality of movement
HP:0100543Cognitive impairment
HP:0100720Hypoplasia of the ear cartilage
Частый (30–79%)13
HP:0000174Abnormal palate morphology
HP:0000303Mandibular prognathia
HP:0000324Facial asymmetry
HP:0000384Preauricular skin tag
HP:0000486Strabismus
HP:0000568Microphthalmia
HP:0000592Blue sclerae
HP:0000612Iris coloboma
HP:0000765Abnormal thorax morphology
HP:0001182Tapered finger
HP:0001250Seizure
HP:0100267Lip pit
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)