CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 22
OrphanetNr:
OMIM Id: 613544
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism 644 / 7739
2
(HPO:0000343) Long philtrum 262 / 7739
3
(HPO:0003196) Short nose 264 / 7739
4
(HPO:0000286) Epicanthus 371 / 7739
5
(HPO:0000219) Thin upper lip vermilion 112 / 7739
6
(HPO:0000455) Broad nasal tip 67 / 7739
7
(HPO:0000218) High palate 356 / 7739
8
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
9
(HPO:0000601) Hypotelorism rare [HPO:skoehler] 83 / 7739
10
(HPO:0000470) Short neck 345 / 7739
11
(HPO:0000377) Abnormality of the pinna 111 / 7739
12
(HPO:0000369) Low-set ears 372 / 7739
13
(HPO:0001263) Global developmental delay 853 / 7739
14
(HPO:0000954) Single transverse palmar crease 162 / 7739
15
(HPO:0001537) Umbilical hernia 206 / 7739
16
(HPO:0000023) Inguinal hernia rare [HPO:skoehler] 181 / 7739
17
(HPO:0004322) Short stature 1232 / 7739
18
(HPO:0010547) Muscle flaccidity 466 / 7739
19
(HPO:0001324) Muscle weakness 859 / 7739
20
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
21
(HPO:0001252) Muscular hypotonia 990 / 7739
22
(OMIM) Contiguous gene deletion syndrome 23 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The cardinal features of chromosome 6q11-q14 interstitial deletions include hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate (summary ...
Clinical Description OMIM Young et al. (1985) described a 2.75-year-old Caucasian girl with feeding problems in infancy, hiatal and inguinal hernias, left exotropia, lacrimal duct atresia, and short achilles tendons. She had generalized hypotonia and was unable to sit, with obvious ...