16q24.3 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 16q24.3
Del(16)(q24.3)
Number of Symptoms 46
OrphanetNr: 261250
OMIM Id:
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the long 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:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
3
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
4
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
5
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
6
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
7
 (HPO:0000341) Narrow forehead Occasional [Orphanet] 96 / 7739
8
 (HPO:0000325) Triangular face Occasional [Orphanet] 91 / 7739
9
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
10
 (HPO:0002553) Highly arched eyebrow Occasional [Orphanet] 92 / 7739
11
 (HPO:0006315) Single median maxillary incisor Occasional [Orphanet] 13 / 7739
12
 (HPO:0000276) Long face Occasional [Orphanet] 109 / 7739
13
 (HPO:0000307) Pointed chin Frequent [Orphanet] 45 / 7739
14
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
15
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
16
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
17
 (HPO:0009553) Abnormality of the hairline Occasional [Orphanet] 30 / 7739
18
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
19
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
20
 (HPO:0000483) Astigmatism Occasional [Orphanet] 67 / 7739
21
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
22
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
23
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
24
 (HPO:0000389) Chronic otitis media Occasional [Orphanet] 64 / 7739
25
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
26
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
27
 (HPO:0000384) Preauricular skin tag Occasional [Orphanet] 62 / 7739
28
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
29
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
30
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
31
 (HPO:0000717) Autism Very frequent [Orphanet] 108 / 7739
32
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
33
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
34
 (HPO:0009623) Proximal placement of thumb Occasional [Orphanet] 50 / 7739
35
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
36
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
37
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
38
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
39
 (HPO:0001972) Macrocytic anemia Occasional [Orphanet] 26 / 7739
40
 (HPO:0001873) Thrombocytopenia Frequent [Orphanet] 224 / 7739
41
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
42
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739
43
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
44
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
46
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: