Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
ORPHA:352530DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)26
HP:0000219Thin upper lip vermilion
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000311Round face
HP:0000316Hypertelorism
HP:0000341Narrow forehead
HP:0000431Wide nasal bridge
HP:0000664Synophrys
HP:0001263Global developmental delay
HP:0000851Congenital hypothyroidism
HP:0001182Tapered finger
HP:0001252Hypotonia
HP:0001321Cerebellar hypoplasia
HP:0001513Obesity
HP:0001999Abnormal facial shape
HP:0002047Malignant hyperthermia
HP:0002079Hypoplasia of the corpus callosum
HP:0002120Cerebral cortical atrophy
HP:0002265Large fleshy ears
HP:0002714Downturned corners of mouth
HP:0004209Clinodactyly of the 5th finger
HP:0009891Underdeveloped supraorbital ridges
HP:0007052Multifocal cerebral white matter abnormalities
HP:0010864Intellectual disability, severe
HP:0007642Congenital stationary night blindness
HP:0012443Abnormality of brain morphology
Частый (30–79%)5
HP:0000286Epicanthus
HP:0000377Abnormal pinna morphology
HP:0001250Seizure
HP:0002123Generalized myoclonic seizure
HP:0011228Horizontal eyebrow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)