FG syndrome type 1
ORPHA:93932DiseaseX-linked recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)72
Частый (30–79%)48
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000154Wide mouth
HP:0000218High palate
HP:0000256Macrocephaly
HP:0000269Prominent occiput
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000378Cupped ear
HP:0000402Stenosis of the external auditory canal
HP:0000448Prominent nose
HP:0000475Broad neck
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000609Optic nerve hypoplasia
HP:0000678Dental crowding
HP:0000750Delayed speech and language development
HP:0000766Abnormal sternum morphology
HP:0001263Global developmental delay
HP:0001317Abnormal cerebellum morphology
HP:0001357Plagiocephaly
HP:0001533Slender build
HP:0001622Premature birth
HP:0001631Atrial septal defect
HP:0001763Pes planus
HP:0001837Broad toe
HP:0002021Pyloric stenosis
HP:0002119Ventriculomegaly
HP:0002136Broad-based gait
HP:0002236Frontal upsweep of hair
HP:0002250Abnormal large intestine morphology
HP:0002307Drooling
HP:0002342Intellectual disability, moderate
HP:0002761Generalized joint laxity
HP:0004322Short stature
HP:0004492Widely patent fontanelles and sutures
HP:0004785Malrotation of colon
HP:0005852Limited elbow extension and supination
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008551Microtia
HP:0008935Generalized neonatal hypotonia
HP:0011090Fused teeth
HP:0012471Thick vermilion border
HP:0012506Small pituitary gland
Периодический (5–29%)24
HP:0000194Open mouth
HP:0000238Hydrocephalus
HP:0000331Short chin
HP:0000407Sensorineural hearing impairment
HP:0000453Choanal atresia
HP:0000722Compulsive behaviors
HP:0000954Single transverse palmar crease
HP:0000960Sacral dimple
HP:0001172Abnormal thumb morphology
HP:0001250Seizure
HP:0001363Craniosynostosis
HP:0001537Umbilical hernia
HP:0001634Mitral valve prolapse
HP:0001680Coarctation of aorta
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002023Anal atresia
HP:0002092Pulmonary arterial hypertension
HP:0005876Progressive flexion contractures
HP:0006101Finger syndactyly
HP:0007018Attention deficit hyperactivity disorder
HP:0009762Facial wrinkling
HP:0012433Abnormal social behavior
HP:0040022Clinodactyly of the 2nd finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)