Kleefstra syndrome due to a point mutation
ORPHA:261652Etiological subtypeAutosomal dominantNeonatal
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KMT2C | lysine methyltransferase 2C | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606833 |
| EHMT1 | euchromatic histone lysine methyltransferase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607001 |
Фенотипы (HPO)50
Очень частый (80–99%)3
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
Частый (30–79%)6
HP:0000078Abnormality of the genital system
HP:0000708Atypical behavior
HP:0001548Overgrowth
HP:0001627Abnormal heart morphology
HP:0002719Recurrent infections
HP:0410263Brain imaging abnormality
Периодический (5–29%)27
HP:0000023Inguinal hernia
HP:0000076Vesicoureteral reflux
HP:0000077Abnormality of the kidney
HP:0000179Thick lower lip vermilion
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001270Motor delay
HP:0001321Cerebellar hypoplasia
HP:0001508Failure to thrive
HP:0001520Large for gestational age
HP:0002020Gastroesophageal reflux
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002194Delayed gross motor development
HP:0002463Language impairment
HP:0002500Abnormal cerebral white matter morphology
HP:0004322Short stature
HP:0006863Severe expressive language delay
HP:0009909Uplifted earlobe
HP:0011351Moderate receptive language delay
HP:0011800Midface retrusion
HP:0033127Abnormality of the musculoskeletal system
HP:0100716Self-injurious behavior
HP:0200005Abnormal shape of the palpebral fissure
Очень редкий (1–4%)14
HP:0000164Abnormality of the dentition
HP:0000248Brachycephaly
HP:0000519Developmental cataract
HP:0000540Hypermetropia
HP:0000695Natal tooth
HP:0000826Precocious puberty
HP:0000974Hyperextensible skin
HP:0001182Tapered finger
HP:0001252Hypotonia
HP:0001357Plagiocephaly
HP:0001537Umbilical hernia
HP:0002023Anal atresia
HP:0002171Gliosis
HP:0002779Tracheomalacia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 23 | 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)