X-linked intellectual disability, Nascimento type
ORPHA:163956DiseaseX-linked recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)64
Очень частый (80–99%)5
HP:0000154Wide mouth
HP:0000958Dry skin
HP:0002194Delayed gross motor development
HP:0002465Poor speech
HP:0009765Low hanging columella
Частый (30–79%)24
HP:0000054Micropenis
HP:0000076Vesicoureteral reflux
HP:0000233Thin vermilion border
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000475Broad neck
HP:0000582Upslanted palpebral fissure
HP:0000664Synophrys
HP:0000718Aggressive behavior
HP:0001250Seizure
HP:0001629Ventricular septal defect
HP:0001761Pes cavus
HP:0001773Short foot
HP:0002162Low posterior hairline
HP:0002230Generalized hirsutism
HP:0002500Abnormal cerebral white matter morphology
HP:0002714Downturned corners of mouth
HP:0003265Neonatal hyperbilirubinemia
HP:0005280Depressed nasal bridge
HP:0006610Wide intermamillary distance
HP:0007103Hypointensity of cerebral white matter on MRI
HP:0010529Echolalia
HP:0010864Intellectual disability, severe
HP:0012450Chronic constipation
Периодический (5–29%)35
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000348High forehead
HP:0000365Hearing impairment
HP:0000400Macrotia
HP:0000430Underdeveloped nasal alae
HP:0000486Strabismus
HP:0000519Developmental cataract
HP:0000722Compulsive behaviors
HP:0001562Oligohydramnios
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0001655Patent foramen ovale
HP:0001718Mitral stenosis
HP:0001719Double outlet right ventricle
HP:0001776Bilateral talipes equinovarus
HP:0001845Overlapping toe
HP:0001875Decreased total neutrophil count
HP:0002002Deep philtrum
HP:0002092Pulmonary arterial hypertension
HP:0002205Recurrent respiratory infections
HP:0002342Intellectual disability, moderate
HP:0004467Preauricular pit
HP:0004969Peripheral pulmonary artery stenosis
HP:0005345Abnormal vena cava morphology
HP:0007509Patchy hypo- and hyperpigmentation
HP:0008404Nail dystrophy
HP:0010721Abnormal hair whorl
HP:0011800Midface retrusion
HP:0011913Lumbar hypertrichosis
HP:0012110Hypoplasia of the pons
HP:0030311Lower extremity joint dislocation
HP:0100760Clubbing of toes
HP:0100838Recurrent cutaneous abscess formation
HP:0410018Recurrent ear infections
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)