1p36 deletion syndrome

From BugSigDB


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
Aliases
  • 1p Telomere Deletion syndrome
  • 1p36 deletion syndrome
  • chromosome 1p36 deletion syndrome
  • chromosome 1p36 deletion syndrome
  • Del(1)(p36)
  • Deletion 1p36
  • deletion 1p36
  • Deletion 1pter
  • deletion 1pter
  • Monosomy 1p36
  • monosomy 1p36
  • monosomy 1P36 syndrome
  • Monosomy 1pter
  • monosomy 1pter
  • Subtelomeric 1p36 deletion
  • subtelomeric 1p36 deletion