Neuroectodermal melanolysosomal disease
ORPHA:33445Malformation syndromeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)9
HP:0001010Hypopigmentation of the skin
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0002216Premature graying of hair
HP:0005599Hypopigmentation of hair
HP:0100022Abnormality of movement
Частый (30–79%)2
HP:0000545Myopia
HP:0001337Tremor
Периодический (5–29%)18
HP:0000486Strabismus
HP:0000587Abnormal optic nerve morphology
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0001321Cerebellar hypoplasia
HP:0002063Rigidity
HP:0002120Cerebral cortical atrophy
HP:0002205Recurrent respiratory infections
HP:0002334Abnormality of the cerebellar vermis
HP:0003552Muscle stiffness
HP:0007440Generalized hyperpigmentation
HP:0007754Macular dystrophy
HP:0008059Aplasia/Hypoplasia of the macula
HP:0012157Subcortical cerebral atrophy
HP:0100308Cerebral cortical hemiatrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)