chromosome 1p36 deletion syndrome
A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0016337
obsolete syndrome associated with dilated cardiomyopathy (obsolete MONDO:0016337)
excluded_subClassOf
MONDO:0016883
partial deletion of the short arm of chromosome 1
is_a
1p telomere deletion syndrome
exact
1p36 deletion syndrome
exact
1p36 microdeletion syndrome
exact
Del(1)(p36)
exact
chromosome 1p36 deletion syndrome, distal, isolated cases
exact
deletion 1p36
exact
deletion 1pter
exact
monosomy 1p36
exact
monosomy 1pter
exact
subtelomeric 1p36 deletion
exact