1p36 deletion syndrome
HUMAN DISEASE
1p36 Deletion Syndrome; Chromosome 1, 1p36 deletion syndrome; Monosomy 1p36 syndrome; Monosomy 1p36
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.