TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
ORPHA:488632Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)73
Очень частый (80–99%)4
HP:0001319Neonatal hypotonia
HP:0003323Progressive muscle weakness
HP:0003444EMG: chronic denervation signs
HP:0006829Severe muscular hypotonia
Частый (30–79%)16
HP:0000280Coarse facial features
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001284Areflexia
HP:0001315Reduced tendon reflexes
HP:0001999Abnormal facial shape
HP:0002079Hypoplasia of the corpus callosum
HP:0002093Respiratory insufficiency
HP:0002119Ventriculomegaly
HP:0002283Global brain atrophy
HP:0002518Abnormal periventricular white matter morphology
HP:0002540Inability to walk
HP:0003119Abnormal circulating lipid concentration
HP:0003202Skeletal muscle atrophy
HP:0011344Severe global developmental delay
HP:0031165Multifocal seizures
Периодический (5–29%)22
HP:0000158Macroglossia
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000337Broad forehead
HP:0000340Sloping forehead
HP:0000414Bulbous nose
HP:0000574Thick eyebrow
HP:0000767Pectus excavatum
HP:0000821Hypothyroidism
HP:0000939Osteoporosis
HP:0001007Hirsutism
HP:0001629Ventricular septal defect
HP:0002045Hypothermia
HP:0002376Developmental regression
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002750Delayed skeletal maturation
HP:0009826Limb undergrowth
HP:0010804Tented upper lip vermilion
HP:0011198EEG with generalized epileptiform discharges
HP:0100288EMG: myokymic discharges
HP:0100543Cognitive impairment
Очень редкий (1–4%)31
HP:0000011Neurogenic bladder
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000303Mandibular prognathia
HP:0000343Long philtrum
HP:0000407Sensorineural hearing impairment
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000582Upslanted palpebral fissure
HP:0000639Nystagmus
HP:0000664Synophrys
HP:0000717Autism
HP:0000824Decreased response to growth hormone stimulation test
HP:0000836Hyperthyroidism
HP:000087811 pairs of ribs
HP:0000964Eczematoid dermatitis
HP:0001500Broad finger
HP:0001540Diastasis recti
HP:0001562Oligohydramnios
HP:0001642Pulmonic stenosis
HP:0001837Broad toe
HP:0002099Asthma
HP:00046912-3 toe syndactyly
HP:0005487Prominent metopic ridge
HP:0007302Bipolar affective disorder
HP:0007957Corneal opacity
HP:0011734Central adrenal insufficiency
HP:0012547Abnormal involuntary eye movements
HP:0030084Clinodactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)