MCID: DSP003
MIFTS: 15
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Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
Categories:
Fetal diseases, Rare diseases
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Aliases & Classifications for Disproportionate Short Stature with Ptosis and Valvular Heart...
MalaCards integrated aliases for Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:
Characteristics:Orphanet epidemiological data:58
short stature-valvular heart disease-characteristic facies syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; HPO:31
disproportionate short stature with ptosis and valvular heart lesions:
Inheritance autosomal dominant inheritance Classifications:
ICD10:
33
Orphanet: 58
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MalaCards based summary :
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions, is also known as short stature-valvular heart disease-characteristic facies syndrome. Affiliated tissues include heart, and related phenotypes are delayed skeletal maturation and large face
More information from OMIM:
126190
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Human phenotypes related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:58 31 (show all 19)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:126190 |
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Genetic tests related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:
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MalaCards organs/tissues related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:40
Heart
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Articles related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions:
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GEO
for disease gene expression data for Disproportionate Short Stature with Ptosis and Valvular Heart Lesions.
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