GenTIGSA Gene Database on Rare Genetic Disorders
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Myhre Syndrome  
Disease Aliases (14)

Facial dysmorphism - intellectual deficit - short stature - hearing loss

Facial dysmorphism - intellectual disability - short stature - hearing loss

Facial dysmorphism, intellectual deficit, short stature and hearing loss

Facial dysmorphism-intellectual disability-short stature-deafness syndrome

Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Growth-mental deficiency syndrome of myhre

Growth mental deficiency syndrome of myhre

Laps syndrome

Laryngotracheal stenosis, arthropathy, prognathism, and short stature

Laryngotracheal stenosis, arthropathy, prognathism and short stature

Laryngotracheal stenosis, progressive, with short stature and arthropathy

Myhre syndrome; myhrs

Myhrs

Myhre syndrome

Associated Genes (1)
 

NCBI-RefSeq:  SMAD4   (SMAD family member 4)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Myhre syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations