CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(p12.1), INCLUDED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 136570
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001999) Abnormal facial shape hallmark [HPO:skoehler] 169 / 7739
2
(HPO:0000708) Behavioral abnormality 9 of 16 [HPO:skoehler] 212 / 7739
3
(HPO:0000750) Delayed speech and language development hallmark [HPO:skoehler] 197 / 7739
4
(HPO:0001263) Global developmental delay hallmark [HPO:skoehler] 853 / 7739
5
(HPO:0001250) Seizures 8 of 22 [HPO:skoehler] 1245 / 7739
6
(HPO:0001290) Generalized hypotonia 10 of 21 [HPO:skoehler] 51 / 7739
7
(HPO:0030680) Abnormality of cardiovascular system morphology hallmark [HPO:skoehler] 355 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome (613604); see 611913 for a deletion or duplication at 16p11.2 associated with autism (AUTS14); and see 613444 for a 220-kb ...
Clinical Description OMIM Girirajan et al. (2010) identified 42 probands with developmental delay, craniofacial dysmorphology, and congenital heart defects carrying a recurrent 520-kb heterozygous microdeletion of chromosome 16p12.1. Evaluation of available medical records showed that most probands had developmental delay and ...
Molecular genetics OMIM By genomewide metaanalysis, Girirajan et al. (2010) identified a recurrent 520-kb heterozygous microdeletion of chromosome 16p12.1 that was associated with susceptibility to childhood developmental delay or intellectual disability, including schizophrenia (181500). The microdeletion was detected in 20 of ...