MCID: CHR614
MIFTS: 11

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 54

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
deletions occur de novo


HPO:

32
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 strabismus, seizures and low-set ears. 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:

54

Muscle Soft Tissue:
hypotonia

Genitourinary- External Genitalia Male:
micropenis
cryptorchidism

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

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

Neurologic- Behavioral Psychiatric Manifestations:
aggressive behavior
autistic spectrum disorder


Clinical features from OMIM:

616863

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

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 strabismus 32 HP:0000486
2 seizures 32 very rare (1%) HP:0001250
3 low-set ears 32 very rare (1%) HP:0000369
4 large fontanelles 32 very rare (1%) HP:0000239
5 trigonocephaly 32 very rare (1%) HP:0000243
6 global developmental delay 32 very rare (1%) HP:0001263
7 cryptorchidism 32 very rare (1%) HP:0000028
8 intellectual disability 32 very rare (1%) HP:0001249
9 aggressive behavior 32 very rare (1%) HP:0000718
10 hallux valgus 32 very rare (1%) HP:0001822
11 muscular hypotonia 32 very rare (1%) HP:0001252
12 apraxia 32 very rare (1%) HP:0002186
13 autistic behavior 32 very rare (1%) HP:0000729
14 delayed speech and language development 32 very rare (1%) HP:0000750
15 perseveration 32 HP:0030223
16 premature adrenarche 32 very rare (1%) HP:0012412
17 clinodactyly of the 5th finger 32 very rare (1%) HP:0004209
18 delayed cranial suture closure 32 very rare (1%) HP:0000270
19 central sleep apnea 32 HP:0010536

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

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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