Fetal iodine syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ENDEMIC CRETINISM
FIDD
Number of Symptoms 17
OrphanetNr: 1910
OMIM Id: 228355
ICD-10: P72.2
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
Transient congenital hypothyroidism due to maternal factor
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
2
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
4
 (HPO:0000365) Hearing impairment 539 / 7739
5
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
6
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
7
 (HPO:0001264) Spastic diplegia 24 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0008251) Congenital goiter 2 / 7739
10
 (HPO:0000851) Congenital hypothyroidism 16 / 7739
11
 (HPO:0000853) Goiter 39 / 7739
12
 (HPO:0000821) Hypothyroidism Frequent [Orphanet] 141 / 7739
13
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
14
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
15
 (OMIM) Maternal iodine deficiency 1 / 7739
16
 (OMIM) Fetal iodine deficiency 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: