SATB2-associated syndrome due to a chromosomal rearrangement
ORPHA:251028Etiological subtypeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)82
Очень частый (80–99%)2
HP:0001263Global developmental delay
HP:0001344Absent speech
Частый (30–79%)21
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000218High palate
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000426Prominent nasal bridge
HP:0000540Hypermetropia
HP:0000708Atypical behavior
HP:0000718Aggressive behavior
HP:0001252Hypotonia
HP:0001776Bilateral talipes equinovarus
HP:0001999Abnormal facial shape
HP:0002307Drooling
HP:0008070Sparse hair
HP:0008734Decreased testicular size
HP:0008872Feeding difficulties in infancy
HP:0010864Intellectual disability, severe
HP:0011220Prominent forehead
HP:0011344Severe global developmental delay
HP:0011470Nasogastric tube feeding in infancy
Периодический (5–29%)59
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000160Narrow mouth
HP:0000201Pierre-Robin sequence
HP:0000256Macrocephaly
HP:0000275Narrow face
HP:0000276Long face
HP:0000322Short philtrum
HP:0000324Facial asymmetry
HP:0000343Long philtrum
HP:0000356Abnormality of the outer ear
HP:0000369Low-set ears
HP:0000444Convex nasal ridge
HP:0000445Wide nose
HP:0000470Short neck
HP:0000478Abnormality of the eye
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000589Coloboma
HP:0000620Dacryocystitis
HP:0000678Dental crowding
HP:0000689Dental malocclusion
HP:0000691Microdontia
HP:0000711Restlessness
HP:0000712Emotional lability
HP:0000742Self-mutilation
HP:0000938Osteopenia
HP:0001238Slender finger
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001629Ventricular septal defect
HP:0001762Talipes equinovarus
HP:0001773Short foot
HP:0002007Frontal bossing
HP:0002011Morphological central nervous system abnormality
HP:0002061Lower limb spasticity
HP:0002136Broad-based gait
HP:0002213Fine hair
HP:0002591Polyphagia
HP:0002659Increased susceptibility to fractures
HP:0002761Generalized joint laxity
HP:0002815Abnormality of the knee
HP:0002870Obstructive sleep apnea
HP:0002938Lumbar hyperlordosis
HP:0002982Tibial bowing
HP:0003196Short nose
HP:0003241External genital hypoplasia
HP:0003272Abnormality of the hip bone
HP:0004209Clinodactyly of the 5th finger
HP:0004482Relative macrocephaly
HP:0005469Flat occiput
HP:0006349Agenesis of permanent teeth
HP:0008897Postnatal growth retardation
HP:0010055Broad hallux
HP:0011304Broad thumb
HP:0011339Abnormality of upper lip vermillion
HP:0012428Prominent calcaneus
HP:0020045Esodeviation
HP:0200055Small hand
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)