Lamb-Shaffer syndrome
ORPHA:530983DiseaseAutosomal dominantInfancy
Фенотипы (HPO)34
Очень частый (80–99%)5
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001999Abnormal facial shape
HP:0031936Delayed ability to walk
Частый (30–79%)4
HP:0000486Strabismus
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
Периодический (5–29%)21
HP:0000252Microcephaly
HP:0000276Long face
HP:0000286Epicanthus
HP:0000331Short chin
HP:0000347Micrognathia
HP:0000455Broad nasal tip
HP:0000648Optic atrophy
HP:0000729Autistic behavior
HP:0000733Abnormal repetitive mannerisms
HP:0000752Hyperactivity
HP:0001250Seizure
HP:0001251Ataxia
HP:0001530Mild postnatal growth retardation
HP:0002493Upper motor neuron dysfunction
HP:0002650Scoliosis
HP:0002949Fused cervical vertebrae
HP:0011968Feeding difficulties
HP:0012433Abnormal social behavior
HP:0012471Thick vermilion border
HP:0025160Abnormal temper tantrums
HP:0040195Decreased head circumference
Очень редкий (1–4%)4
HP:0000646Amblyopia
HP:0001385Hip dysplasia
HP:0002942Thoracic kyphosis
HP:0100704Cerebral visual impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 70 | 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)