19p13.12 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Del(19)(p13.12)
Monosomy 19p13.12
Number of Symptoms 56
OrphanetNr: 254346
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 short arm of chromosome 19
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
2
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
3
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
4
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
5
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
6
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
7
 (HPO:0000446) Narrow nasal bridge Frequent [Orphanet] 29 / 7739
8
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
9
 (HPO:0000288) Abnormality of the philtrum Occasional [Orphanet] 54 / 7739
10
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
11
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
12
 (HPO:0000520) Proptosis Occasional [Orphanet] 192 / 7739
13
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
14
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
15
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
16
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
17
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
18
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
19
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
20
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
21
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
22
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
23
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
24
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
25
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
26
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
27
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
28
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
29
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
30
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
31
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
32
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
33
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
34
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
35
 (HPO:0001863) Toe clinodactyly Occasional [Orphanet] 12 / 7739
36
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
37
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
38
 (HPO:0006191) Deep palmar crease Occasional [Orphanet] 16 / 7739
39
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
40
 (HPO:0001397) Hepatic steatosis Occasional [Orphanet] 75 / 7739
41
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
42
 (HPO:0001513) Obesity Occasional [Orphanet] 172 / 7739
43
 (HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 92 / 7739
44
 (HPO:0001869) Deep plantar creases Occasional [Orphanet] 14 / 7739
45
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
46
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
47
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
48
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
49
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
50
 (HPO:0003119) Abnormality of lipid metabolism Occasional [Orphanet] 60 / 7739
51
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
52
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
53
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
54
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
55
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
56
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: