Table 2. Summary of features in reported cases of deletions anywhere within BP3–BP5.

	BP3–BP4a	BP3–BP5b	BP4–BP5c
Low birth weight	1/5	0/3	3/16
Failure to thrive	4/6	1/5	4/38
Short stature	4/7	0/5	4/42
Microcephaly	4/7	2/5	4/44
Macrocephaly	1/7	2/5	9/44
Developmental delay and/or mental retardation	7/7	5/6	48/50
Hypotonia	5/6	3/4	13/27
Seizures or abnormal EEG	2/7	2/6	25/50d
Behavioral concerns	0/6	5/5	36/50
Hearing loss	2/7	0/5	0/38
Abnormal brain imaging	1/3	3/4	8/28
Spinal abnormalities	0/7	1/5	1/38
Ocular features	5/6	1/5	11/37
Dysmorphic features	6/7	4/4	23/30
Heart defects	1/7	1/5	4/39
Renal abnormalities	1/7	0/5	1/38
Premature puberty or breast development	1/7	2/5	1/38

^aSubjects 1–4 in this report, as well as probands in the literature.^{2, 7, 8}

^bSubject 5 in this report, as well as probands in the literature.^{2, 7, 18, 20}

^cPreviously reported probands.^{2, 7, 18, 19, 20, 21, 47, 48}

^dIncludes 11 individuals from a cohort of individuals with seizures.²⁰