MCID: CHR614
MIFTS: 12

Chromosome 16p13.2 Deletion Syndrome

Aliases & Classifications for Chromosome 16p13.2 Deletion Syndrome

MalaCards integrated aliases for Chromosome 16p13.2 Deletion Syndrome:

Name: Chromosome 16p13.2 Deletion Syndrome 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
deletions occur de novo


HPO:

31
chromosome 16p13.2 deletion syndrome:
Inheritance autosomal dominant inheritance


Summaries for Chromosome 16p13.2 Deletion Syndrome

MalaCards based summary : Chromosome 16p13.2 Deletion Syndrome and has symptoms including seizures, low-set ears and intellectual disability. An important gene associated with Chromosome 16p13.2 Deletion Syndrome is DEL16P13.2 (Chromosome 16p13.2 Deletion Syndrome).

Description from OMIM: 616863

Related Diseases for Chromosome 16p13.2 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 16p13.2 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
intellectual disability
speech apraxia
delayed psychomotor development
poor or absent speech
seizures (in most patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic spectrum disorder

Head And Neck Face:
dysmorphic facial features, mild (in some patients)

Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

616863

Human phenotypes related to Chromosome 16p13.2 Deletion Syndrome:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 seizures 31 very rare (1%) HP:0001250
2 low-set ears 31 very rare (1%) HP:0000369
3 intellectual disability 31 very rare (1%) HP:0001249
4 muscular hypotonia 31 very rare (1%) HP:0001252
5 global developmental delay 31 very rare (1%) HP:0001263
6 delayed speech and language development 31 very rare (1%) HP:0000750
7 abnormal facial shape 31 occasional (7.5%) HP:0001999
8 strabismus 31 HP:0000486
9 cryptorchidism 31 very rare (1%) HP:0000028
10 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
11 apraxia 31 very rare (1%) HP:0002186
12 aggressive behavior 31 very rare (1%) HP:0000718
13 hallux valgus 31 very rare (1%) HP:0001822
14 large fontanelles 31 very rare (1%) HP:0000239
15 trigonocephaly 31 very rare (1%) HP:0000243
16 micropenis 31 HP:0000054
17 autistic behavior 31 very rare (1%) HP:0000729
18 delayed cranial suture closure 31 very rare (1%) HP:0000270
19 premature adrenarche 31 very rare (1%) HP:0012412
20 generalized hypotonia 31 HP:0001290
21 speech apraxia 31 HP:0011098
22 central sleep apnea 31 HP:0010536
23 perseveration 31 HP:0030223

Drugs & Therapeutics for Chromosome 16p13.2 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 16p13.2 Deletion Syndrome

Genetic Tests for Chromosome 16p13.2 Deletion Syndrome

Anatomical Context for Chromosome 16p13.2 Deletion Syndrome

Publications for Chromosome 16p13.2 Deletion Syndrome

Variations for Chromosome 16p13.2 Deletion Syndrome

Expression for Chromosome 16p13.2 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 16p13.2 Deletion Syndrome.

Pathways for Chromosome 16p13.2 Deletion Syndrome

GO Terms for Chromosome 16p13.2 Deletion Syndrome

Sources for Chromosome 16p13.2 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....