chromosome 15q26-qter deletion syndrome
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.
MONDO:0016913
partial deletion of the long arm of chromosome 15
is_a
15q26 deletion syndrome
exact
Drayer syndrome
exact
chromosome 15q26-qter deletion syndrome
exact
chromosome 15q26-qter deletion syndrome, isolated cases
exact
distal monosomy 15q
exact
distal monosomy type 15q
exact
monosomy 15q26
exact
telomeric 15q deletion syndrome
exact