Maternal hyperthermia induced birth defects

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 2216
OMIM Id:
ICD-10: Q86.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
2
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
3
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
4
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
5
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
6
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
7
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
8
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
9
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
10
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
11
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
12
 (HPO:0001197) Abnormality of prenatal development or birth Very frequent [Orphanet] 9 / 7739
13
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
14
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
15
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
17
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: