Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
ORPHA:3224Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)28
Очень частый (80–99%)16
HP:0000047Hypospadias
HP:0000324Facial asymmetry
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000407Sensorineural hearing impairment
HP:0000411Protruding ear
HP:0001249Intellectual disability
HP:0001321Cerebellar hypoplasia
HP:0001761Pes cavus
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002334Abnormality of the cerebellar vermis
HP:0005105Abnormal nasal morphology
HP:0005916Abnormal metacarpal morphology
HP:0007477Abnormal dermatoglyphics
HP:0011220Prominent forehead
Частый (30–79%)12
HP:0000164Abnormality of the dentition
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0001273Abnormal corpus callosum morphology
HP:0001596Alopecia
HP:0001770Toe syndactyly
HP:0001956Truncal obesity
HP:0002167Abnormality of speech or vocalization
HP:0002558Supernumerary nipple
HP:0003468Abnormal vertebral morphology
HP:0006101Finger syndactyly
HP:0010109Short hallux
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)