1p36 deletion syndrome
Name: |
1p36 deletion syndrome
|
Description: |
A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.
|
ORPHAcode: |
1606
|
Synonyms: |
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
|
XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
|
Changed: |
22 Jun 2023 - 16:14
|