WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
ORPHA:466943Malformation syndromeAutosomal dominant, Not applicable, UnknownChildhood, Infancy
Фенотипы (HPO)70
Очень частый (80–99%)5
HP:0000708Atypical behavior
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0008947Floppy infant
Частый (30–79%)16
HP:0000321Square face
HP:0000356Abnormality of the outer ear
HP:0000486Strabismus
HP:0000504Abnormality of vision
HP:0000739Anxiety
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001344Absent speech
HP:0002019Constipation
HP:0002194Delayed gross motor development
HP:0002360Sleep abnormality
HP:0002579Gastrointestinal dysmotility
HP:0007018Attention deficit hyperactivity disorder
HP:0010862Delayed fine motor development
HP:0011968Feeding difficulties
HP:0030190Oral motor hypotonia
Периодический (5–29%)37
HP:0000154Wide mouth
HP:0000219Thin upper lip vermilion
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000358Posteriorly rotated ears
HP:0000395Prominent antihelix
HP:0000414Bulbous nose
HP:0000431Wide nasal bridge
HP:0000455Broad nasal tip
HP:0000483Astigmatism
HP:0000490Deeply set eye
HP:0000545Myopia
HP:0000637Long palpebral fissure
HP:0000664Synophrys
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0001156Brachydactyly
HP:0001260Dysarthria
HP:0001513Obesity
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002099Asthma
HP:0002119Ventriculomegaly
HP:0002342Intellectual disability, moderate
HP:0002370Poor coordination
HP:0002714Downturned corners of mouth
HP:0002719Recurrent infections
HP:0003186Inverted nipples
HP:0005280Depressed nasal bridge
HP:0006889Intellectual disability, borderline
HP:0011220Prominent forehead
HP:0011822Broad chin
HP:0012704Widened subarachnoid space
HP:0030863Nasal flaring
HP:0040288Nasogastric tube feeding
HP:0100704Cerebral visual impairment
HP:0100716Self-injurious behavior
Очень редкий (1–4%)12
HP:0000125Pelvic kidney
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000954Single transverse palmar crease
HP:0001763Pes planus
HP:0002069Bilateral tonic-clonic seizure
HP:0002121Generalized non-motor (absence) seizure
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0004279Short palm
HP:0008081Pes valgus
HP:0100581Dilatation of renal calices
HP:0100702Arachnoid cyst
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 22 | 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)