MCID: CHR614
MIFTS: 18

Chromosome 16p13.2 Deletion Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 16p13.2 Deletion Syndrome

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

Name: Chromosome 16p13.2 Deletion Syndrome 57
16p13.2 Microdeletion Syndrome 59
Monosomy 16p13.2 59
Del(16)(p13.2) 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
deletions occur de novo


HPO:

32
chromosome 16p13.2 deletion syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chromosome 16p13.2 Deletion Syndrome

MalaCards based summary : Chromosome 16p13.2 Deletion Syndrome, is also known as 16p13.2 microdeletion syndrome. An important gene associated with Chromosome 16p13.2 Deletion Syndrome is DEL16P13.2 (Chromosome 16p13.2 Deletion Syndrome). Related phenotypes are low-set ears and intellectual disability

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:

57
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:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 very rare (1%) HP:0000369
2 intellectual disability 32 very rare (1%) HP:0001249
3 seizures 32 very rare (1%) HP:0001250
4 muscular hypotonia 32 very rare (1%) HP:0001252
5 global developmental delay 32 very rare (1%) HP:0001263
6 delayed speech and language development 32 very rare (1%) HP:0000750
7 abnormal facial shape 32 occasional (7.5%) HP:0001999
8 strabismus 32 HP:0000486
9 absent speech 32 HP:0001344
10 cryptorchidism 32 very rare (1%) HP:0000028
11 clinodactyly of the 5th finger 32 very rare (1%) HP:0004209
12 apraxia 32 very rare (1%) HP:0002186
13 aggressive behavior 32 very rare (1%) HP:0000718
14 hallux valgus 32 very rare (1%) HP:0001822
15 large fontanelles 32 very rare (1%) HP:0000239
16 micropenis 32 HP:0000054
17 generalized hypotonia 32 HP:0001290
18 autistic behavior 32 very rare (1%) HP:0000729
19 trigonocephaly 32 very rare (1%) HP:0000243
20 delayed cranial suture closure 32 very rare (1%) HP:0000270
21 premature adrenarche 32 very rare (1%) HP:0012412
22 speech apraxia 32 HP:0011098
23 central sleep apnea 32 HP:0010536
24 perseveration 32 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....