Lissencephaly syndrome, Norman-Roberts type
ORPHA:89844Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NDE1 | nudE neurodevelopment protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 609449 |
| KATNB1 | katanin regulatory subunit B1 | Disease-causing germline mutation(s) in | gene with protein product | 602703 |
| RELN | reelin | Disease-causing germline mutation(s) in | gene with protein product | 600514 |
Фенотипы (HPO)35
Очень частый (80–99%)6
HP:0000316Hypertelorism
HP:0001249Intellectual disability
HP:0001999Abnormal facial shape
HP:00068184-layered lissencephaly
HP:0011451Congenital microcephaly
HP:0045028Microlissencephaly
Частый (30–79%)15
HP:0000269Prominent occiput
HP:0000308Microretrognathia
HP:0000340Sloping forehead
HP:0000341Narrow forehead
HP:0000350Small forehead
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0001250Seizure
HP:0001511Intrauterine growth retardation
HP:0002683Abnormality of the calvaria
HP:0003808Abnormal muscle tone
HP:0011344Severe global developmental delay
HP:0011968Feeding difficulties
HP:0012736Profound global developmental delay
Периодический (5–29%)14
HP:0000268Dolichocephaly
HP:0000479Abnormal retinal morphology
HP:0001181Adducted thumb
HP:0001272Cerebellar atrophy
HP:0001274Agenesis of corpus callosum
HP:0001631Atrial septal defect
HP:0001655Patent foramen ovale
HP:0001838Rocker bottom foot
HP:0002015Dysphagia
HP:0002079Hypoplasia of the corpus callosum
HP:0002098Respiratory distress
HP:0002269Abnormality of neuronal migration
HP:0002514Cerebral calcification
HP:0006270Hypoplastic spleen
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)