Difference of sex development-intellectual disability syndrome
ORPHA:2983DiseaseUnknownNeonatal
Фенотипы (HPO)23
Очень частый (80–99%)23
HP:0000046Small scrotum
HP:0000135Hypogonadism
HP:0000233Thin vermilion border
HP:0000271Abnormality of the face
HP:0000322Short philtrum
HP:0000470Short neck
HP:0000490Deeply set eye
HP:0000664Synophrys
HP:0001249Intellectual disability
HP:0002162Low posterior hairline
HP:0002714Downturned corners of mouth
HP:0002808Kyphosis
HP:0002857Genu valgum
HP:0003196Short nose
HP:0003298Spina bifida occulta
HP:0004349Reduced bone mineral density
HP:0006610Wide intermamillary distance
HP:0008551Microtia
HP:0008625Severe sensorineural hearing impairment
HP:0008736Hypoplasia of penis
HP:0010306Short thorax
HP:0010720Abnormal hair pattern
HP:0000358Posteriorly rotated ears
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)