Toluene embryopathy

General Information (adopted from Orphanet):

Synonyms, Signs: Toluene antenatal infection
Number of Symptoms 23
OrphanetNr: 1920
OMIM Id:
ICD-10: Q86.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Teratogenic Pierre Robin syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Toxic or drug-related embryofetopathy
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
2
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
(HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
4
(HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
5
(HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
6
(HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
7
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
8
(HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
9
(HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
10
(HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
11
(HPO:0000272) Malar flattening Frequent [Orphanet] 277 / 7739
12
(HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
13
(HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
14
(HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
15
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
16
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
17
(HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
18
(HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
19
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
20
(HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 72 / 7739
21
(HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
22
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
23
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: