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TELO2-related intellectual disability-neurodevelopmental disorder
Disease definition
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.
ORPHA:488642
Classification level: Disorder- Synonym(s):
- You-Hoover-Fong syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal
- ICD-10: Q87.8
- OMIM: 616954
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)
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