X-linked intellectual disability, Cabezas type
ORPHA:85293Malformation syndromeX-linked recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)20
HP:0000023Inguinal hernia
HP:0000154Wide mouth
HP:0000322Short philtrum
HP:0000363Abnormality of earlobe
HP:0000448Prominent nose
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000664Synophrys
HP:0000752Hyperactivity
HP:0001344Absent speech
HP:0002167Abnormality of speech or vocalization
HP:0002342Intellectual disability, moderate
HP:0004209Clinodactyly of the 5th finger
HP:0004279Short palm
HP:0008736Hypoplasia of penis
HP:0010720Abnormal hair pattern
HP:0010807Open bite
HP:0010864Intellectual disability, severe
HP:0200021Down-sloping shoulders
HP:0200055Small hand
Частый (30–79%)15
HP:0000179Thick lower lip vermilion
HP:0000218High palate
HP:0000256Macrocephaly
HP:0000581Blepharophimosis
HP:0000718Aggressive behavior
HP:0001337Tremor
HP:0001513Obesity
HP:0001761Pes cavus
HP:0001773Short foot
HP:0001852Sandal gap
HP:0002136Broad-based gait
HP:0002650Scoliosis
HP:0004322Short stature
HP:0004326Cachexia
HP:0008734Decreased testicular size
Периодический (5–29%)14
HP:0001382Joint hypermobility
HP:0000135Hypogonadism
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000956Acanthosis nigricans
HP:0000975Hyperhidrosis
HP:0001250Seizure
HP:0001770Toe syndactyly
HP:0002353EEG abnormality
HP:0002721Immunodeficiency
HP:0002808Kyphosis
HP:0002967Cubitus valgus
HP:0004422Biparietal narrowing
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 24 | Worldwide | Family(ies) |
| 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)