Microcephalic primordial dwarfism, Montreal type
ORPHA:2617Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)30
HP:0000358Posteriorly rotated ears
HP:0001276Hypertonia
HP:0001347Hyperreflexia
HP:0002162Low posterior hairline
HP:0002216Premature graying of hair
HP:0002293Alopecia of scalp
HP:0002353EEG abnormality
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003422Vertebral segmentation defect
HP:0003510Severe short stature
HP:0004349Reduced bone mineral density
HP:0004399Congenital pyloric atresia
HP:0006610Wide intermamillary distance
HP:0007477Abnormal dermatoglyphics
HP:0007495Prematurely aged appearance
HP:0009721Shagreen patch
HP:0010807Open bite
HP:0011362Abnormal hair quantity
HP:0100578Lipoatrophy
HP:0000028Cryptorchidism
HP:0000174Abnormal palate morphology
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000444Convex nasal ridge
HP:0000508Ptosis
HP:0000670Carious teeth
HP:0000958Dry skin
HP:0000975Hyperhidrosis
HP:0001249Intellectual disability
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)