KDM5C-related syndromic X-linked intellectual disability
ORPHA:85279Malformation syndromeX-linked recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)5
HP:0000028Cryptorchidism
HP:0000327Hypoplasia of the maxilla
HP:0000750Delayed speech and language development
HP:0002232Patchy alopecia
HP:0010864Intellectual disability, severe
Частый (30–79%)5
HP:0000718Aggressive behavior
HP:0001250Seizure
HP:0001257Spasticity
HP:0001347Hyperreflexia
HP:0004322Short stature
Периодический (5–29%)15
HP:0000218High palate
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000411Protruding ear
HP:0000426Prominent nasal bridge
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000717Autism
HP:0001182Tapered finger
HP:0001762Talipes equinovarus
HP:0004279Short palm
HP:0007565Multiple cafe-au-lait spots
HP:0008734Decreased testicular size
HP:0030084Clinodactyly
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)