Gabriele-de Vries syndrome
ORPHA:506358Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)73
Очень частый (80–99%)6
HP:0000179Thick lower lip vermilion
HP:0000272Malar flattening
HP:0000337Broad forehead
HP:0000414Bulbous nose
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
Частый (30–79%)17
HP:0000307Pointed chin
HP:0000324Facial asymmetry
HP:0000358Posteriorly rotated ears
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000629Periorbital fullness
HP:0000708Atypical behavior
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001511Intrauterine growth retardation
HP:0002342Intellectual disability, moderate
HP:0008872Feeding difficulties in infancy
HP:0011339Abnormality of upper lip vermillion
HP:0011471Gastrostomy tube feeding in infancy
HP:0031936Delayed ability to walk
HP:0200136Oral-pharyngeal dysphagia
Периодический (5–29%)50
HP:0000028Cryptorchidism
HP:0000074Ureteropelvic junction obstruction
HP:0000126Hydronephrosis
HP:0000164Abnormality of the dentition
HP:0000218High palate
HP:0000268Dolichocephaly
HP:0000297Facial hypotonia
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000483Astigmatism
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0000540Hypermetropia
HP:0000717Autism
HP:0000729Autistic behavior
HP:0000739Anxiety
HP:0000821Hypothyroidism
HP:0000824Decreased response to growth hormone stimulation test
HP:0000974Hyperextensible skin
HP:0001274Agenesis of corpus callosum
HP:0001332Dystonia
HP:0001337Tremor
HP:0001344Absent speech
HP:0001363Craniosynostosis
HP:0001518Small for gestational age
HP:0001655Patent foramen ovale
HP:0001822Hallux valgus
HP:0001852Sandal gap
HP:0002032Esophageal atresia
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002171Gliosis
HP:0002236Frontal upsweep of hair
HP:0002500Abnormal cerebral white matter morphology
HP:0002515Waddling gait
HP:0002719Recurrent infections
HP:0003006Neuroblastoma
HP:0003187Breast hypoplasia
HP:0005684Distal arthrogryposis
HP:0006094Finger joint hypermobility
HP:0007018Attention deficit hyperactivity disorder
HP:0007678Lacrimal duct stenosis
HP:0008944Distal lower limb amyotrophy
HP:0010316Ebstein anomaly of the tricuspid valve
HP:0010499Patellar subluxation
HP:0010864Intellectual disability, severe
HP:0011311Sydney crease
HP:0011344Severe global developmental delay
HP:0012448Delayed myelination
HP:0045075Sparse eyebrow
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)