16p13.11 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 16p13.11
Del(16)(p13.11)
Number of Symptoms 36
OrphanetNr: 261236
OMIM Id:
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the short arm of chromosome 16
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
3
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
4
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
5
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
6
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
7
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
8
 (HPO:0009914) Cyclopia Occasional [Orphanet] 11 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
10
 (HPO:0000288) Abnormality of the philtrum Occasional [Orphanet] 54 / 7739
11
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
12
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
13
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
14
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
15
 (HPO:0000372) Abnormality of the auditory canal Occasional [Orphanet] 49 / 7739
16
 (HPO:0000384) Preauricular skin tag Occasional [Orphanet] 62 / 7739
17
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
18
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
19
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
20
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
21
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
22
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
23
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
24
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
25
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
26
 (HPO:0004684) Talipes valgus Occasional [Orphanet] 28 / 7739
27
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
28
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
29
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
30
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
31
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
32
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
33
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
34
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
35
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
36
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: