Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
ORPHA:1812Malformation syndromeX-linked recessiveAntenatal, Neonatal
Фенотипы (HPO)39
Очень частый (80–99%)25
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000494Downslanted palpebral fissures
HP:0000682Abnormality of dental enamel
HP:0000691Microdontia
HP:0000958Dry skin
HP:0000963Thin skin
HP:0000966Hypohidrosis
HP:0001274Agenesis of corpus callosum
HP:0001288Gait disturbance
HP:0002007Frontal bossing
HP:0002119Ventriculomegaly
HP:0002213Fine hair
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0008736Hypoplasia of penis
HP:0008872Feeding difficulties in infancy
HP:0010669Hypoplasia of the zygomatic bone
HP:0010864Intellectual disability, severe
HP:0010978Abnormality of immune system physiology
HP:0100840Aplasia/Hypoplasia of the eyebrow
Периодический (5–29%)14
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000286Epicanthus
HP:0000490Deeply set eye
HP:0000492Abnormal eyelid morphology
HP:0000767Pectus excavatum
HP:0000821Hypothyroidism
HP:0001252Hypotonia
HP:0001561Polyhydramnios
HP:0001852Sandal gap
HP:0002558Supernumerary nipple
HP:0002991Abnormal fibula morphology
HP:0010624Aplastic/hypoplastic toenail
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)