Microform holoprosencephaly

Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.


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PMID (PMCID)
25257745
 MALE Infant, Newborn
A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings.
Hyohyeon C, Lee CG.
Am J Med Genet A. 2015;167A(1):198-203.
He showed microform holoprosencephaly with microcephaly, distinctive facial features, severe intellectual disabilities, behavior problems, seizures, short stature, penoscrotal transposition, and ulnar ray deficiency.