Basel-Vanagaite-Smirin-Yosef syndrome
ORPHA:464738Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)69
Очень частый (80–99%)3
HP:0002540Inability to walk
HP:0007413Nevus flammeus of the forehead
HP:0011344Severe global developmental delay
Частый (30–79%)21
HP:0000047Hypospadias
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000348High forehead
HP:0000482Microcornea
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000519Developmental cataract
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001344Absent speech
HP:0002209Sparse scalp hair
HP:0002263Exaggerated cupid's bow
HP:0002465Poor speech
HP:0005274Prominent nasal tip
HP:0010804Tented upper lip vermilion
HP:0045075Sparse eyebrow
Периодический (5–29%)45
HP:0006956Dilation of lateral ventricles
HP:0007082Dilated third ventricle
HP:0008499High hypermetropia
HP:0009468Deviation of the 2nd finger
HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger
HP:0010186Broad distal phalanx of the toes
HP:0010557Overlapping fingers
HP:0011670Left superior vena cava draining to coronary sinus
HP:0030084Clinodactyly
HP:0032077Male urethral meatus stenosis
HP:0000023Inguinal hernia
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000221Furrowed tongue
HP:0000278Retrognathia
HP:0000369Low-set ears
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000568Microphthalmia
HP:0000646Amblyopia
HP:0000718Aggressive behavior
HP:0000768Pectus carinatum
HP:0000954Single transverse palmar crease
HP:0001081Cholelithiasis
HP:0001181Adducted thumb
HP:0001257Spasticity
HP:0001274Agenesis of corpus callosum
HP:0001288Gait disturbance
HP:0001315Reduced tendon reflexes
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001761Pes cavus
HP:0001845Overlapping toe
HP:0002019Constipation
HP:0002059Cerebral atrophy
HP:0002079Hypoplasia of the corpus callosum
HP:0002092Pulmonary arterial hypertension
HP:0002342Intellectual disability, moderate
HP:0002389Cavum septum pellucidum
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002808Kyphosis
HP:00046912-3 toe syndactyly
HP:0006101Finger syndactyly
HP:0006532Recurrent pneumonia
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)