TELO2-related intellectual disability-neurodevelopmental disorder
human disease
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Summary
TELO2-related intellectual disability-neurodevelopmental disorder is a rare disease[1]. It is known by 3 alternative names across languages and contexts.[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: genetic disease[4], genetic syndromic intellectual disability[5], multiple congenital anomalies/dysmorphic syndrome-intellectual disability[6], neuro-ophthalmological disease[7], developmental defect during embryogenesis[8]
- Prevalence: 0.000001[9]
- Genetic association: TELO2[10]
- Age of onset: neonatal onset[11]
- Exact match: http://www.orpha.net/ORDO/Orphanet_488642[12]
- Has phenotype: abnormal facial shape[13], Q141815143[14], feeding difficulties[15], movement disorders[16], sleep disturbance[17], Q141814974[18], blue sclera[19], pectus excavatum[20], pectus carinatum[21], coarctation of the aorta[22], short foot[23], congenital onset[24], Q141815315[25], vascular ring[26]
- P14914: D488642[27]