Helsmoortel-Van der Aa syndrome
ORPHA:404448Malformation syndromeUnknownChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)80
Очень частый (80–99%)6
HP:0000020Urinary incontinence
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0002167Abnormality of speech or vocalization
HP:0012760Reduced social responsiveness
Частый (30–79%)14
HP:0000722Compulsive behaviors
HP:0000739Anxiety
HP:0001167Abnormality of finger
HP:0001382Joint hypermobility
HP:0002020Gastroesophageal reflux
HP:0002591Polyphagia
HP:0007018Attention deficit hyperactivity disorder
HP:0008947Floppy infant
HP:0011343Moderate global developmental delay
HP:0011344Severe global developmental delay
HP:0012443Abnormality of brain morphology
HP:0012450Chronic constipation
HP:0025160Abnormal temper tantrums
HP:0200136Oral-pharyngeal dysphagia
Периодический (5–29%)39
HP:0000010Recurrent urinary tract infections
HP:0000179Thick lower lip vermilion
HP:0000219Thin upper lip vermilion
HP:0000243Trigonocephaly
HP:0000319Smooth philtrum
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000718Aggressive behavior
HP:0000954Single transverse palmar crease
HP:0001357Plagiocephaly
HP:0001488Bilateral ptosis
HP:0001597Abnormality of the nail
HP:0001780Abnormality of toe
HP:0001852Sandal gap
HP:0001956Truncal obesity
HP:0002013Vomiting
HP:0002059Cerebral atrophy
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002360Sleep abnormality
HP:0002376Developmental regression
HP:0002788Recurrent upper respiratory tract infections
HP:0002835Aspiration
HP:0004322Short stature
HP:0005216Impaired mastication
HP:0006288Advanced eruption of teeth
HP:0006610Wide intermamillary distance
HP:0007042Focal white matter lesions
HP:0008551Microtia
HP:0009890High anterior hairline
HP:0010442Polydactyly
HP:0011342Mild global developmental delay
HP:0011471Gastrostomy tube feeding in infancy
HP:0030680Abnormal cardiovascular system morphology
HP:0100704Cerebral visual impairment
HP:0200006Slanting of the palpebral fissure
Очень редкий (1–4%)21
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000577Exotropia
HP:0000612Iris coloboma
HP:0000637Long palpebral fissure
HP:0000646Amblyopia
HP:0001007Hirsutism
HP:0001118Juvenile cataract
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001537Umbilical hernia
HP:0002098Respiratory distress
HP:0002209Sparse scalp hair
HP:00046912-3 toe syndactyly
HP:0005280Depressed nasal bridge
HP:0008935Generalized neonatal hypotonia
HP:0010055Broad hallux
HP:0011304Broad thumb
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)