X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
ORPHA:459070Malformation syndromeX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)63
Очень частый (80–99%)3
HP:0001250Seizure
HP:0001999Abnormal facial shape
HP:0010864Intellectual disability, severe
Частый (30–79%)15
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000303Mandibular prognathia
HP:0000400Macrotia
HP:0000717Autism
HP:0000750Delayed speech and language development
HP:0001251Ataxia
HP:0001321Cerebellar hypoplasia
HP:0001344Absent speech
HP:0001510Growth delay
HP:0002020Gastroesophageal reflux
HP:0002650Scoliosis
HP:0002655Spondyloepiphyseal dysplasia
HP:0008947Floppy infant
HP:0040080Anteverted ears
Периодический (5–29%)45
HP:0000023Inguinal hernia
HP:0000047Hypospadias
HP:0000160Narrow mouth
HP:0000219Thin upper lip vermilion
HP:0000232Everted lower lip vermilion
HP:0000268Dolichocephaly
HP:0000276Long face
HP:0000286Epicanthus
HP:0000308Microretrognathia
HP:0000319Smooth philtrum
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000407Sensorineural hearing impairment
HP:0000411Protruding ear
HP:0000510Rod-cone dystrophy
HP:0000545Myopia
HP:0000577Exotropia
HP:0000823Delayed puberty
HP:0000939Osteoporosis
HP:0000954Single transverse palmar crease
HP:0000960Sacral dimple
HP:0001007Hirsutism
HP:0001182Tapered finger
HP:0001561Polyhydramnios
HP:0001601Laryngomalacia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001770Toe syndactyly
HP:0002069Bilateral tonic-clonic seizure
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002540Inability to walk
HP:0002719Recurrent infections
HP:0004209Clinodactyly of the 5th finger
HP:0004415Pulmonary artery stenosis
HP:0005750Contractures of the joints of the lower limbs
HP:0006698Dilatation of the ventricular cavity
HP:0007359Focal-onset seizure
HP:0008734Decreased testicular size
HP:0009381Short finger
HP:0010818Generalized tonic seizure
HP:0012032Lipoma
HP:0012811Wide nasal ridge
HP:0031535Increased theta frequency activity in EEG
HP:0045025Narrow palpebral fissure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)