Log In|Sign Up
ENMuscular Pseudohypertrophy-Hypothyroidism Syndrome
Alias:
Kocher-Debre-Semelaigne Syndrome
Kocher-Debré-Semelaigne Syndrome
Hoffmann Syndrome
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Favorite
Muscular Pseudohypertrophy-Hypothyroidism Syndrome, also known as kocher-debre-semelaigne syndrome, is related to trigonocephaly-broad thumbs syndrome and congenital hypothyroidism. Affiliated tissues include thyroid and skeletal muscle, and related phenotypes are gait disturbance and constipation
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
