holoprosencephaly
Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0018762
non-acquired combined pituitary hormone deficiency
is_a
MONDO:0100545
hereditary neurological disease
is_a
HPE
exact
holoprosencephaly sequence
exact
SPAC17H9.20 SPAC20G8.06 SPCC4E9.01c SPAC22F8.11