6q25 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 6q25
Del(6)(q25)
Number of Symptoms 30
OrphanetNr: 251056
OMIM Id: 612863
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the long arm of chromosome 6
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000078) Abnormality of the genital system Occasional [Orphanet] 33 / 7739
2
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
3
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
4
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
5
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
6
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
7
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
8
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
9
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
10
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
11
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
12
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
13
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
14
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
15
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
16
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
17
 (HPO:0012639) Abnormality of nervous system morphology Frequent [Orphanet] 25 / 7739
18
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
19
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
20
 (HPO:0001838) Rocker bottom foot Occasional [Orphanet] 85 / 7739
21
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
22
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
23
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
24
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
25
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
26
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
27
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
28
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
29
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
30
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pirola et al. (1998) described a 9-month-old girl who had hydrocephalus noted on fetal ultrasonography and was born with marked muscular hypotonia and dysmorphic features including dolichocephaly, high-arched and occult submucous cleft palate, low-set ears, relatively long distal ...
Molecular genetics OMIM Thienpont et al. (2010) analyzed the TAB2 gene in 402 patients with cardiac outflow tract defects and identified heterozygosity for missense mutations (605101.0001 and 605101.0002) in 2 patients with multiple types of congenital heart disease (614980); neither mutation ...