Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
ORPHA:466950Clinical subtypeAutosomal dominant, Not applicableChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)68
Очень частый (80–99%)6
HP:0000708Atypical behavior
HP:0001249Intellectual disability
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001999Abnormal facial shape
Частый (30–79%)10
HP:0000321Square face
HP:0000486Strabismus
HP:0000504Abnormality of vision
HP:0000739Anxiety
HP:0000750Delayed speech and language development
HP:0001319Neonatal hypotonia
HP:0002019Constipation
HP:0002086Abnormality of the respiratory system
HP:0002360Sleep abnormality
HP:0007018Attention deficit hyperactivity disorder
Периодический (5–29%)52
HP:0000125Pelvic kidney
HP:0000154Wide mouth
HP:0000219Thin upper lip vermilion
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000358Posteriorly rotated ears
HP:0000365Hearing impairment
HP:0000395Prominent antihelix
HP:0000414Bulbous nose
HP:0000431Wide nasal bridge
HP:0000455Broad nasal tip
HP:0000490Deeply set eye
HP:0000539Abnormality of refraction
HP:0000572Visual loss
HP:0000574Thick eyebrow
HP:0000637Long palpebral fissure
HP:0000664Synophrys
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000954Single transverse palmar crease
HP:0001007Hirsutism
HP:0001156Brachydactyly
HP:0001212Prominent fingertip pads
HP:0001260Dysarthria
HP:0001344Absent speech
HP:0001513Obesity
HP:0001763Pes planus
HP:0001956Truncal obesity
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002069Bilateral tonic-clonic seizure
HP:0002099Asthma
HP:0002119Ventriculomegaly
HP:0002205Recurrent respiratory infections
HP:0002793Abnormal pattern of respiration
HP:0003186Inverted nipples
HP:0004279Short palm
HP:0005280Depressed nasal bridge
HP:0005288Abnormality of the nares
HP:0008081Pes valgus
HP:0009794Branchial anomaly
HP:0011147Typical absence seizure
HP:0011171Simple febrile seizures
HP:0011220Prominent forehead
HP:0011822Broad chin
HP:0012076Borderline personality disorder
HP:0012704Widened subarachnoid space
HP:0040288Nasogastric tube feeding
HP:0100581Dilatation of renal calices
HP:0100702Arachnoid cyst
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)