Symbol
| DEL10PP
|
Location
| 10p11p12
|
Name
|
chromosome 10p proximal deletions |
Corresponding gene
|
WAC
, ARMC4
, MPP7
, BAMBI
|
Main clinical features
|
developmental delay and abnormal behaviour
dysmorphic features, including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows and full cheeks, marked midface retrusion whereas other features varied
various visual impairments and cardiac malformations. PMID: 21522184
pseudoarthrosis of the clavicle and copper beaten skull described in 1 case |
Genetic determination
| chromosomal |
Function/system disorder
Type
| MCA/MR
| |