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 58
16p13.2 Microdeletion Syndrome 60
Monosomy 16p13.2 60
Del(16)(p13.2) 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
deletions occur de novo


HPO:

33
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 abnormal facial shape and low-set ears

Description from OMIM: 616863

Related Diseases for Chromosome 16p13.2 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 16p13.2 Deletion Syndrome

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

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 33 occasional (7.5%) HP:0001999
2 low-set ears 33 very rare (1%) HP:0000369
3 intellectual disability 33 very rare (1%) HP:0001249
4 seizures 33 very rare (1%) HP:0001250
5 muscular hypotonia 33 very rare (1%) HP:0001252
6 global developmental delay 33 very rare (1%) HP:0001263
7 delayed speech and language development 33 very rare (1%) HP:0000750
8 cryptorchidism 33 very rare (1%) HP:0000028
9 clinodactyly of the 5th finger 33 very rare (1%) HP:0004209
10 apraxia 33 very rare (1%) HP:0002186
11 aggressive behavior 33 very rare (1%) HP:0000718
12 hallux valgus 33 very rare (1%) HP:0001822
13 large fontanelles 33 very rare (1%) HP:0000239
14 autistic behavior 33 very rare (1%) HP:0000729
15 trigonocephaly 33 very rare (1%) HP:0000243
16 delayed cranial suture closure 33 very rare (1%) HP:0000270
17 premature adrenarche 33 very rare (1%) HP:0012412
18 strabismus 33 HP:0000486
19 absent speech 33 HP:0001344
20 micropenis 33 HP:0000054
21 generalized hypotonia 33 HP:0001290
22 speech apraxia 33 HP:0011098
23 central sleep apnea 33 HP:0010536
24 perseveration 33 HP:0030223

Symptoms via clinical synopsis from OMIM:

58
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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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