MCID: CHR707
MIFTS: 10

Chromosome 13q33-Q34 Deletion Syndrome

Aliases & Classifications for Chromosome 13q33-Q34 Deletion Syndrome

MalaCards integrated aliases for Chromosome 13q33-Q34 Deletion Syndrome:

Name: Chromosome 13q33-Q34 Deletion Syndrome 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant (less common)


External Ids:

OMIM® 57 619148

Summaries for Chromosome 13q33-Q34 Deletion Syndrome

OMIM® : 57 Chromosome 13q33-q34 deletion syndrome is associated with developmental delay and/or impaired intellectual development, facial dysmorphism, and an increased risk for epilepsy, cardiac defects and additional anatomic anomalies (summary by Sagi-Dain et al., 2019). (619148) (Updated 05-Mar-2021)

MalaCards based summary : Chromosome 13q33-Q34 Deletion Syndrome An important gene associated with Chromosome 13q33-Q34 Deletion Syndrome is DEL13Q33Q34 (Chromosome 13q33-Q34 Deletion Syndrome).

Related Diseases for Chromosome 13q33-Q34 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 13q33-Q34 Deletion Syndrome

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
hypoplasia of the corpus callosum
cortical dysplasia
hypotonia
more
Head And Neck Head:
microcephaly
brachycephaly
trigonocephaly

Head And Neck Face:
retrognathia
short philtrum
wide forehead

Head And Neck Ears:
posteriorly rotated ears
dysplastic ears
large ears

Skeletal Hands:
distally placed thumb
thenar hypoplasia
tapering fingers
polydactyly (in some patients)
single palmar crease

Cardiovascular Heart:
ventricular septal defect (in some patients)
atrial septal defect (in some patients)
pulmonary valve stenosis (in one patient)
complex cardiac malformation (in 1 patient)
single ventricle (in 1 patient)

Growth Weight:
obesity (in some patients)

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds
more
Growth Height:
short stature

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Nose:
prominent nose
broad nasal tip
long nasal bridge

Head And Neck Mouth:
high-arched palate
prominent and arched upper lip

Skeletal Feet:
overriding toes

Clinical features from OMIM®:

619148 (Updated 05-Mar-2021)

Drugs & Therapeutics for Chromosome 13q33-Q34 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 13q33-Q34 Deletion Syndrome

Genetic Tests for Chromosome 13q33-Q34 Deletion Syndrome

Anatomical Context for Chromosome 13q33-Q34 Deletion Syndrome

Publications for Chromosome 13q33-Q34 Deletion Syndrome

Articles related to Chromosome 13q33-Q34 Deletion Syndrome:

# Title Authors PMID Year
1
The rare 13q33-q34 microdeletions: eight new patients and review of the literature. 57
31321490 2019
2
Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7. 57
29734022 2018
3
Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome. 57
27067448 2016
4
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. 57
19363806 2009

Variations for Chromosome 13q33-Q34 Deletion Syndrome

Expression for Chromosome 13q33-Q34 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 13q33-Q34 Deletion Syndrome.

Pathways for Chromosome 13q33-Q34 Deletion Syndrome

GO Terms for Chromosome 13q33-Q34 Deletion Syndrome

Sources for Chromosome 13q33-Q34 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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