disease arises from structure
disease arises from alteration in structure
9q21.13 (Human)
syndrome caused by partial chromosomal deletion
partial deletion of chromosome 9
9q21.13 microdeletion syndrome
MONDO:0035173
A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.
GARD:22212
Orphanet:531151
ICD10CM:F78.1