Nicolaides-Baraitser syndrome
ORPHA:3051Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)22
HP:0000154Wide mouth
HP:0000232Everted lower lip vermilion
HP:0000233Thin vermilion border
HP:0000252Microcephaly
HP:0000319Smooth philtrum
HP:0000325Triangular face
HP:0000343Long philtrum
HP:0000463Anteverted nares
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001373Joint dislocation
HP:0001596Alopecia
HP:0002300Mutism
HP:0002381Aphasia
HP:0002705High, narrow palate
HP:0004279Short palm
HP:0008070Sparse hair
HP:0009928Thick nasal alae
HP:0010529Echolalia
HP:0005916Abnormal metacarpal morphology
Частый (30–79%)22
HP:0000028Cryptorchidism
HP:0000035Abnormal testis morphology
HP:0000446Narrow nasal bridge
HP:0000527Long eyelashes
HP:0000581Blepharophimosis
HP:0000964Eczematoid dermatitis
HP:0001167Abnormality of finger
HP:0001250Seizure
HP:0001852Sandal gap
HP:0002121Generalized non-motor (absence) seizure
HP:0002133Status epilepticus
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0003510Severe short stature
HP:0006610Wide intermamillary distance
HP:0007392Excessive wrinkled skin
HP:0007665Curly eyelashes
HP:0009836Broad distal phalanx of finger
HP:0010720Abnormal hair pattern
HP:0011097Epileptic spasm
HP:0012745Short palpebral fissure
HP:0100760Clubbing of toes
Периодический (5–29%)6
HP:0000494Downslanted palpebral fissures
HP:0002750Delayed skeletal maturation
HP:0005616Accelerated skeletal maturation
HP:0005930Abnormality of epiphysis morphology
HP:0030680Abnormal cardiovascular system morphology
HP:0100790Hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 61 | 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)