14q12 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 14q12
Del(14)(q12)
Number of Symptoms 30
OrphanetNr: 261144
OMIM Id:
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the long arm of chromosome 14
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
2
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
5
 (HPO:0005487) Prominent metopic ridge Frequent [Orphanet] 28 / 7739
6
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
7
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
8
 (HPO:0003781) Excessive salivation Frequent [Orphanet] 15 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
10
 (HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
11
 (HPO:0100540) Palpebral edema Frequent [Orphanet] 31 / 7739
12
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
13
 (HPO:0010804) Tented upper lip vermilion Very frequent [Orphanet] 47 / 7739
14
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
15
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
16
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
17
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
18
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
19
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
20
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
21
 (HPO:0000733) Stereotypy Very frequent [Orphanet] 58 / 7739
22
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
23
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
24
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
25
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
26
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
27
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
28
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
29
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
30
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: