X-linked intellectual disability due to GRIA3 mutations
ORPHA:364028DiseaseX-linked recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)57
Очень частый (80–99%)2
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
Частый (30–79%)5
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0001328Specific learning disability
HP:0001533Slender build
HP:0002342Intellectual disability, moderate
Периодический (5–29%)50
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000126Hydronephrosis
HP:0000188Short upper lip
HP:0000189Narrow palate
HP:0000194Open mouth
HP:0000248Brachycephaly
HP:0000256Macrocephaly
HP:0000272Malar flattening
HP:0000297Facial hypotonia
HP:0000303Mandibular prognathia
HP:0000322Short philtrum
HP:0000336Prominent supraorbital ridges
HP:0000400Macrotia
HP:0000490Deeply set eye
HP:0000508Ptosis
HP:0000675Macrodontia of permanent maxillary central incisor
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000742Self-mutilation
HP:0000817Reduced eye contact
HP:0001256Intellectual disability, mild
HP:0001257Spasticity
HP:0001265Hyporeflexia
HP:0001270Motor delay
HP:0001320Cerebellar vermis hypoplasia
HP:0001336Myoclonus
HP:0001382Joint hypermobility
HP:0001763Pes planus
HP:0002069Bilateral tonic-clonic seizure
HP:0002079Hypoplasia of the corpus callosum
HP:0002133Status epilepticus
HP:0002360Sleep abnormality
HP:0002460Distal muscle weakness
HP:0002650Scoliosis
HP:0002719Recurrent infections
HP:0002808Kyphosis
HP:0002816Genu recurvatum
HP:0003487Babinski sign
HP:0004322Short stature
HP:0006863Severe expressive language delay
HP:0006951Retrocerebellar cyst
HP:0006979Sleep-wake cycle disturbance
HP:0007021Pain insensitivity
HP:0007655Eversion of lateral third of lower eyelids
HP:0008936Axial hypotonia
HP:0009909Uplifted earlobe
HP:0010864Intellectual disability, severe
HP:0012471Thick vermilion border
HP:0030236Abnormality of muscle size
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | 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)