Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
ORPHA:391408DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены2
Фенотипы (HPO)67
Очень частый (80–99%)6
HP:0000252Microcephaly
HP:0000819Diabetes mellitus
HP:0001249Intellectual disability
HP:0001518Small for gestational age
HP:0003508Proportionate short stature
HP:0011451Congenital microcephaly
Частый (30–79%)8
HP:0000823Delayed puberty
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0001943Hypoglycemia
HP:0001999Abnormal facial shape
HP:0002465Poor speech
HP:0004325Decreased body weight
Периодический (5–29%)53
HP:0000160Narrow mouth
HP:0000219Thin upper lip vermilion
HP:0000274Small face
HP:0000275Narrow face
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000294Low anterior hairline
HP:0000311Round face
HP:0000322Short philtrum
HP:0000341Narrow forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000407Sensorineural hearing impairment
HP:0000445Wide nose
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000592Blue sclerae
HP:0000601Hypotelorism
HP:0000664Synophrys
HP:0000677Oligodontia
HP:0000685Hypoplasia of teeth
HP:0000767Pectus excavatum
HP:0000821Hypothyroidism
HP:0001238Slender finger
HP:0001321Cerebellar hypoplasia
HP:0001348Brisk reflexes
HP:0001382Joint hypermobility
HP:0001620Abnormally high-pitched voice
HP:0001946Ketosis
HP:0002079Hypoplasia of the corpus callosum
HP:0002136Broad-based gait
HP:0002213Fine hair
HP:0002313Spastic paraparesis
HP:0002365Hypoplasia of the brainstem
HP:0002460Distal muscle weakness
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0002751Kyphoscoliosis
HP:0003196Short nose
HP:0007258Severe demyelination of the white matter
HP:0008070Sparse hair
HP:0008081Pes valgus
HP:0008850Severe postnatal growth retardation
HP:0008936Axial hypotonia
HP:0010344Deviation of the 5th toe
HP:0010864Intellectual disability, severe
HP:0011308Slender toe
HP:0012448Delayed myelination
HP:0025383Dorsocervical fat pad
HP:0030084Clinodactyly
HP:0200021Down-sloping shoulders
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)