Intellectual disability-balding-patella luxation-acromicria syndrome
ORPHA:3041Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)54
Очень частый (80–99%)11
HP:0000232Everted lower lip vermilion
HP:0000233Thin vermilion border
HP:0000348High forehead
HP:0000455Broad nasal tip
HP:0000490Deeply set eye
HP:0000582Upslanted palpebral fissure
HP:0001999Abnormal facial shape
HP:0002234Early balding
HP:0002292Frontal balding
HP:0003086Acromesomelia
HP:0010864Intellectual disability, severe
Частый (30–79%)15
HP:0000054Micropenis
HP:0000135Hypogonadism
HP:0000219Thin upper lip vermilion
HP:0000414Bulbous nose
HP:0000635Blue irides
HP:0001250Seizure
HP:0002317Unsteady gait
HP:0002751Kyphoscoliosis
HP:0003065Patellar hypoplasia
HP:0003199Decreased muscle mass
HP:0003241External genital hypoplasia
HP:0003758Reduced subcutaneous adipose tissue
HP:0008734Decreased testicular size
HP:0008947Floppy infant
HP:0010499Patellar subluxation
Периодический (5–29%)28
HP:0001761Pes cavus
HP:0001831Short toe
HP:0001840Metatarsus adductus
HP:0001956Truncal obesity
HP:0002205Recurrent respiratory infections
HP:0002313Spastic paraparesis
HP:0002378Hand tremor
HP:0002938Lumbar hyperlordosis
HP:0002942Thoracic kyphosis
HP:0002944Thoracolumbar scoliosis
HP:00046912-3 toe syndactyly
HP:00046924-5 toe syndactyly
HP:0005469Flat occiput
HP:0008414Lumbar kyphosis in infancy
HP:0009738Abnormality of the antihelix
HP:0011220Prominent forehead
HP:0011800Midface retrusion
HP:0011968Feeding difficulties
HP:0030044Flexion contracture of digit
HP:0000218High palate
HP:0000268Dolichocephaly
HP:0000286Epicanthus
HP:0000322Short philtrum
HP:0000411Protruding ear
HP:0000742Self-mutilation
HP:0000957Cafe-au-lait spot
HP:0001187Hyperextensibility of the finger joints
HP:0001310Dysmetria
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)