Tatton-Brown-Rahman syndrome
ORPHA:404443Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)2
HP:0000256Macrocephaly
HP:0011407Proportionate tall stature
Частый (30–79%)5
HP:0000708Atypical behavior
HP:0001513Obesity
HP:0002342Intellectual disability, moderate
HP:0002751Kyphoscoliosis
HP:0008947Floppy infant
Периодический (5–29%)18
HP:0000028Cryptorchidism
HP:0000280Coarse facial features
HP:0000311Round face
HP:0000574Thick eyebrow
HP:0000739Anxiety
HP:0001250Seizure
HP:0001256Intellectual disability, mild
HP:0001382Joint hypermobility
HP:0001566Widely-spaced maxillary central incisors
HP:0001631Atrial septal defect
HP:0001831Short toe
HP:0002119Ventriculomegaly
HP:0002308Chiari malformation
HP:0002376Developmental regression
HP:0008094Widely spaced toes
HP:0010864Intellectual disability, severe
HP:0045025Narrow palpebral fissure
HP:0100753Schizophrenia
Очень редкий (1–4%)15
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000718Aggressive behavior
HP:0001537Umbilical hernia
HP:0001643Patent ductus arteriosus
HP:0001653Mitral regurgitation
HP:0002000Short columella
HP:0002002Deep philtrum
HP:0002616Aortic root aneurysm
HP:0003508Proportionate short stature
HP:0005180Tricuspid regurgitation
HP:0007302Bipolar affective disorder
HP:0011688Supraventricular tachycardia with an accessory connection mediated pathway
HP:0012324Myeloid leukemia
HP:0100634Neuroendocrine neoplasm
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | 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)