chromosome 1p36 deletion syndrome

Rare Disease

MONDO:0011929

Also Known As

1p telomere deletion syndrome1p36 deletion syndrome1p36 microdeletion syndromeDel(1)(p36)chromosome 1p36 deletion syndromechromosome 1p36 deletion syndrome, distal, isolated casesdeletion 1p36deletion 1ptermonosomy 1p36monosomy 1ptersubtelomeric 1p36 deletionmonosomy 1P36 syndrome

Definition

A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.