Muscular pseudohypertrophy - hypothyroidism

General Information (adopted from Orphanet):

Synonyms, Signs: Hoffman syndrome
Kocher-Debré-Semelaigne syndrome
Number of Symptoms 15
OrphanetNr: 2349
OMIM Id:
ICD-10: E03.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic hypothyroidism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
2
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
3
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
4
 (HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
5
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
6
 (HPO:0000821) Hypothyroidism Very frequent [Orphanet] 141 / 7739
7
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
8
 (HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
9
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
10
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
11
 (HPO:0003712) Skeletal muscle hypertrophy Very frequent [Orphanet] 42 / 7739
12
 (HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
13
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
14
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: