Intellectual disability-facial dysmorphism-hand anomalies syndrome
ORPHA:370010Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)34
Частый (30–79%)7
HP:0000219Thin upper lip vermilion
HP:0000455Broad nasal tip
HP:0000750Delayed speech and language development
HP:0001328Specific learning disability
HP:0002342Intellectual disability, moderate
HP:0011822Broad chin
HP:0012745Short palpebral fissure
Периодический (5–29%)27
HP:0000252Microcephaly
HP:0000273Facial grimacing
HP:0000403Recurrent otitis media
HP:0000954Single transverse palmar crease
HP:0001156Brachydactyly
HP:0001288Gait disturbance
HP:0001800Hypoplastic toenails
HP:0001831Short toe
HP:0001965Abnormality of the scalp
HP:0002465Poor speech
HP:0003484Upper limb muscle weakness
HP:0004322Short stature
HP:0004602Cervical C2/C3 vertebral fusion
HP:0009611Bifid distal phalanx of the thumb
HP:0009644Curved distal phalanx of the thumb
HP:0009648Triangular shaped distal phalanx of the thumb
HP:0009650Short distal phalanx of the thumb
HP:0009778Short thumb
HP:0009882Short distal phalanx of finger
HP:0010041Short 3rd metacarpal
HP:0010047Short 5th metacarpal
HP:0010492Osseous finger syndactyly
HP:0011304Broad thumb
HP:00119393-4 finger cutaneous syndactyly
HP:0012553Hypoplastic thumbnail
HP:0012713Moderate hearing impairment
HP:0025502Overweight
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)