chromosome 1q41-q42 deletion syndrome
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
MONDO:0016296
holoprosencephaly
is_a
MONDO:0022756
chromosome 1q deletion
is_a
1q41-q42 deletion syndrome
related
1q41q42 microdeletion syndrome
exact
Del(1)(q41q42)
exact
chromosome 1q41-q42 deletion syndrome
exact
chromosome 1q41-q42 deletion syndrome, isolated cases
exact
deletion 1q41-q42
related
monosomy 1q41-q42
exact
monosomy 1q41q42
exact