Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
ORPHA:397709Malformation syndromeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)7
HP:0000280Coarse facial features
HP:0000750Delayed speech and language development
HP:0002194Delayed gross motor development
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0010862Delayed fine motor development
HP:0010864Intellectual disability, severe
HP:0011344Severe global developmental delay
Частый (30–79%)13
HP:0000158Macroglossia
HP:0000407Sensorineural hearing impairment
HP:0000639Nystagmus
HP:0000729Autistic behavior
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001344Absent speech
HP:0002007Frontal bossing
HP:0002136Broad-based gait
HP:0002751Kyphoscoliosis
HP:0004482Relative macrocephaly
HP:0011842Abnormality of skeletal morphology
HP:0100540Palpebral edema
Периодический (5–29%)34
HP:0000218High palate
HP:0000289Broad philtrum
HP:0000293Full cheeks
HP:0000307Pointed chin
HP:0000343Long philtrum
HP:0000350Small forehead
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0000678Dental crowding
HP:0000768Pectus carinatum
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001257Spasticity
HP:0001265Hyporeflexia
HP:0001433Hepatosplenomegaly
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001762Talipes equinovarus
HP:0002002Deep philtrum
HP:0002186Apraxia
HP:0002219Facial hypertrichosis
HP:0002500Abnormal cerebral white matter morphology
HP:0002684Thickened calvaria
HP:0003487Babinski sign
HP:0005280Depressed nasal bridge
HP:0006951Retrocerebellar cyst
HP:0008443Spinal deformities
HP:0010471Oligosacchariduria
HP:0012110Hypoplasia of the pons
HP:0012385Camptodactyly
HP:0012471Thick vermilion border
HP:0012745Short palpebral fissure
HP:0012810Wide nasal base
HP:0030084Clinodactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 30 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)