Athyreosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr: 95713
OMIM Id: 218700
225250
ICD-10: E03.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital hypothyroidism due to developmental anomaly
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
2
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
3
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
4
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
5
 (HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
6
 (HPO:0005990) Thyroid hypoplasia Very frequent [Orphanet] 21 / 7739
7
 (HPO:0000821) Hypothyroidism Very frequent [Orphanet] 141 / 7739
8
 (HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
9
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
10
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
11
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
12
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
13
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: